job_id locusID org_ref_taxname org_ref_commonname OMIM synonyms genesummary genename phenotypes pathways GeneLowPoint GeneHighPoint ori chr genesymbol build cyto approx pathway-nonregistered-2016-03-17_02:31:49 251 Homo sapiens human 171810 ALPG GCAP ALPPL There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] alkaline phosphatase, placental-like 2 KEGG pathway: Folate biosynthesis--- KEGG pathway: Metabolic pathways 233271552 233275424 + 2 ALPPL2 Homo sapiens Annotation Release 105 2q37 0 pathway-nonregistered-2016-03-17_02:31:49 23284 Homo sapiens human LEC3 CIRL3 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008] latrophilin 3 62066949 62938168 + 4 LPHN3 Homo sapiens Annotation Release 105 4q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 93035 Homo sapiens human 607843 PKHDL1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 110374706 110543500 + 8 PKHD1L1 Homo sapiens Annotation Release 105 8q23 0 pathway-nonregistered-2016-03-17_02:31:49 32 Homo sapiens human 601557 ACC2 ACCB HACC275 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] acetyl-CoA carboxylase beta KEGG pathway: Metabolic pathways--- KEGG pathway: Adipocytokine signaling pathway--- KEGG pathway: Insulin signaling pathway--- KEGG pathway: Fatty acid metabolism--- KEGG pathway: Fatty acid biosynthesis--- KEGG pathway: Propanoate metabolism--- KEGG pathway: Pyruvate metabolism--- Reactome Event:Disease--- Reactome Event:Metabolism 109554222 109706031 + 12 ACACB Homo sapiens Annotation Release 105 12q24.11 0 pathway-nonregistered-2016-03-17_02:31:49 2670 Homo sapiens human 137780 This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] glial fibrillary acidic protein Alexander disease is a disorder of cortical white matter that predominantly affects infants and children and usually results in death within ten years after onset. The infantile form comprises about 51% of affected individuals, the juvenile form about 23%, and the adult form about 24%. A neonatal form is also recognized. The neonatal form leads to severe disability or death within two years. Characteristics include seizures, hydrocephalus, severe motor and intellectual disability, severe white-matter abnormalities, involvement of the basal ganglia and cerebellum, and elevated CSF protein concentration. The infantile form presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly and frontal bossing, seizures, hyperreflexia and pyramidal signs, ataxia, and hydrocephalus secondary to aqueductal stenosis. Affected children survive weeks to several years. The juvenile form usually presents between ages four and ten years, occasionally in the mid-teens. Findings can include bulbar/pseudobulbar signs, ataxia, gradual loss of intellectual function, seizures, megalencephaly, and breathing problems. Survival ranges from the early teens to the 20s-30s. The adult form is the most variable.--- Diagnosis of Alexander disease is based on MRI findings. Prior to the availability of molecular genetic testing the diagnosis was confirmed by the detection of astrocytic inclusion bodies (Rosenthal fibers) on brain histology. GFAP, which encodes glial fibrillary acidic protein, is the only gene in which mutation is currently known to cause Alexander disease.--- Alexander disease is inherited in an autosomal dominant manner. The risk to the sibs of the proband depends on the genetic status of the proband's parents. If a parent is affected or has a mutation in GFAP, the risk to the sibs of inheriting the GFAP mutation is 50%. Sibs of a proband with unaffected parents are at low risk for Alexander disease; however, the possibility of germline mosaicism exists. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in an affected family member. Reactome Event:Signal Transduction 42982994 42992920 - 17 GFAP Homo sapiens Annotation Release 105 17q21 0 pathway-nonregistered-2016-03-17_02:31:49 55729 Homo sapiens human 613644 AM MCAF p621 MCAF1 ATF-IP ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] activating transcription factor 7 interacting protein 14518566 14655864 + 12 ATF7IP Homo sapiens Annotation Release 105 12p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 120892 Homo sapiens human 609007 PARK8 RIPK7 ROCO2 AURA17 DARDARIN This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] leucine-rich repeat kinase 2 KEGG pathway: Parkinson's disease 40618813 40763087 + 12 LRRK2 Homo sapiens Annotation Release 105 12q12 0 pathway-nonregistered-2016-03-17_02:31:49 91074 Homo sapiens human 610856 NY-BR-1 RP11-20F24.1 ankyrin repeat domain 30A 37414785 37521495 + 10 ANKRD30A Homo sapiens Annotation Release 105 10p11.21 0 pathway-nonregistered-2016-03-17_02:31:49 9759 Homo sapiens human 605314 HD4 AHO3 BDMR HDACA HA6116 HDAC-4 HDAC-A Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] histone deacetylase 4 No evidence available (Last evaluated (2013-04-16)--- Little evidence for dosage pathogenicity (Last evaluated (2013-04-16) KEGG pathway: Alcoholism--- KEGG pathway: Viral carcinogenesis--- KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Epstein-Barr virus infection--- Reactome Event:Signal Transduction--- Reactome Event:Disease 239969864 240323346 - 2 HDAC4 Homo sapiens Annotation Release 105 2q37.3 0 pathway-nonregistered-2016-03-17_02:31:49 4745 Homo sapiens human 602319 NRP1 IDH3GL This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] NEL-like 1 (chicken) 20691117 21597232 + 11 NELL1 Homo sapiens Annotation Release 105 11p15.1 0 pathway-nonregistered-2016-03-17_02:31:49 55534 Homo sapiens human 608991 GDN MAM2 CAGH3 ERDA3 MAM-2 TNRC3 mastermind-like 3 (Drosophila) KEGG pathway: Notch signaling pathway--- Reactome Event:Disease--- Reactome Event:Gene Expression--- Reactome Event:Signal Transduction 140637545 141075233 - 4 MAML3 Homo sapiens Annotation Release 105 4q28 0 pathway-nonregistered-2016-03-17_02:31:49 29994 Homo sapiens human 605683 WALp4 bromodomain adjacent to zinc finger domain, 2B 160175490 160473059 - 2 BAZ2B Homo sapiens Annotation Release 105 2q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 400954 Homo sapiens human echinoderm microtubule associated protein like 6 54952149 55199157 + 2 EML6 Homo sapiens Annotation Release 105 2p16.1 0 pathway-nonregistered-2016-03-17_02:31:49 113251 Homo sapiens human PP13296 La ribonucleoprotein domain family, member 4 50794592 50873788 + 12 LARP4 Homo sapiens Annotation Release 105 12q13.12 0 pathway-nonregistered-2016-03-17_02:31:49 85378 Homo sapiens human 610053 GCP6 GCP-6 MCCRP MCPHCR The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] tubulin, gamma complex associated protein 6 Reactome Event:Cell Cycle 50656118 50683453 - 22 TUBGCP6 Homo sapiens Annotation Release 105 22q13.31-q13.33 0 pathway-nonregistered-2016-03-17_02:31:49 4744 Homo sapiens human 162230 NFH Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008] neurofilament, heavy polypeptide Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles.--- The diagnosis of ALS is based on clinical features, electrodiagnostic testing, and exclusion of other health conditions with related symptoms. Molecular genetic testing plays a prominent role in diagnosis of the genetic subtype and genetic counseling.--- Amyotrophic lateral sclerosis can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis. KEGG pathway: Amyotrophic lateral sclerosis (ALS) 29876181 29887279 + 22 NEFH Homo sapiens Annotation Release 105 22q12.2 0 pathway-nonregistered-2016-03-17_02:31:49 9394 Homo sapiens human 604846 HH15 HS6ST The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008] heparan sulfate 6-O-sulfotransferase 1 KEGG pathway: Glycosaminoglycan biosynthesis - heparan sulfate / heparin 129023054 129076171 - 2 HS6ST1 Homo sapiens Annotation Release 105 2q21 0 pathway-nonregistered-2016-03-17_02:31:49 91752 Homo sapiens human 612282 C2orf10 zinc finger protein 804A 185463093 185804214 + 2 ZNF804A Homo sapiens Annotation Release 105 2q32.1 0 pathway-nonregistered-2016-03-17_02:31:49 56999 Homo sapiens human 605421 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008] ADAM metallopeptidase with thrombospondin type 1 motif, 9 Reactome Event:Extracellular matrix organization 64501330 64673676 - 3 ADAMTS9 Homo sapiens Annotation Release 105 3p14.1 0 pathway-nonregistered-2016-03-17_02:31:49 4593 Homo sapiens human 601296 This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] muscle, skeletal, receptor tyrosine kinase Reactome Event:Extracellular matrix organization 113430935 113566386 + 9 MUSK Homo sapiens Annotation Release 105 9q31.3-q32 0 pathway-nonregistered-2016-03-17_02:31:49 23193 Homo sapiens human 104160 G2AN GLUII glucosidase, alpha; neutral AB KEGG pathway: Metabolic pathways--- KEGG pathway: Protein processing in endoplasmic reticulum--- KEGG pathway: N-Glycan biosynthesis--- Reactome Event:Metabolism of proteins--- Reactome Event:Signal Transduction 62392298 62414198 - 11 GANAB Homo sapiens Annotation Release 105 11q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 9215 Homo sapiens human 603590 MDC1D MDDGA6 MDDGB6 This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] like-glycosyltransferase 33668509 34316464 - 22 LARGE Homo sapiens Annotation Release 105 22q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 114 Homo sapiens human 103070 AC8 ADCY3 HBAC1 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008] adenylate cyclase 8 (brain) KEGG pathway: Retrograde endocannabinoid signaling--- KEGG pathway: Glutamatergic synapse--- KEGG pathway: Long-term potentiation--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Chemokine signaling pathway--- KEGG pathway: Ovarian steroidogenesis--- KEGG pathway: GnRH signaling pathway--- KEGG pathway: Oocyte meiosis--- KEGG pathway: Estrogen signaling pathway--- KEGG pathway: Thyroid hormone synthesis--- KEGG pathway: Progesterone-mediated oocyte maturation--- KEGG pathway: Melanogenesis--- KEGG pathway: Vascular smooth muscle contraction--- KEGG pathway: Insulin secretion--- KEGG pathway: Pancreatic secretion--- KEGG pathway: Rap1 signaling pathway--- KEGG pathway: Circadian entrainment--- KEGG pathway: Bile secretion--- KEGG pathway: Gap junction--- KEGG pathway: Cholinergic synapse--- KEGG pathway: HTLV-I infection--- KEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Taste transduction--- KEGG pathway: Salivary secretion--- KEGG pathway: Gastric acid secretion--- KEGG pathway: Purine metabolism--- KEGG pathway: GABAergic synapse--- KEGG pathway: Adrenergic signaling in cardiomyocytes--- KEGG pathway: Morphine addiction--- Reactome Event:Signal Transduction--- Reactome Event:Immune System--- Reactome Event:Transmembrane transport of small molecules--- Reactome Event:Metabolism--- Reactome Event:Disease--- Reactome Event:Neuronal System 131792546 132053012 - 8 ADCY8 Homo sapiens Annotation Release 105 8q24 0 pathway-nonregistered-2016-03-17_02:31:49 64848 Homo sapiens human CAHL YTH domain containing 2 112849391 112930984 + 5 YTHDC2 Homo sapiens Annotation Release 105 5q22.2 0 pathway-nonregistered-2016-03-17_02:31:49 55814 Homo sapiens human 607012 TFC5 TFNR TAF3B1 TFIIIB'' TFIIIB90 HSA238520 TFIIIB150 The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 70751442 70863649 + 5 BDP1 Homo sapiens Annotation Release 105 5q13 0 pathway-nonregistered-2016-03-17_02:31:49 7466 Homo sapiens human 606201 WFS WFRS WFSL This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] Wolfram syndrome 1 (wolframin) No evidence available (Last evaluated (2012-02-08)--- No evidence available (Last evaluated (2012-02-08) KEGG pathway: Protein processing in endoplasmic reticulum--- Reactome Event:Metabolism of proteins 6271577 6304992 + 4 WFS1 Homo sapiens Annotation Release 105 4p16.1 0 pathway-nonregistered-2016-03-17_02:31:49 114800 Homo sapiens human coiled-coil domain containing 85A 56411258 56613309 + 2 CCDC85A Homo sapiens Annotation Release 105 2p16.1 0 pathway-nonregistered-2016-03-17_02:31:49 8567 Homo sapiens human 603584 DENN IG20 RAB3GEP Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] MAP-kinase activating death domain 47290927 47351582 + 11 MADD Homo sapiens Annotation Release 105 11p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 4988 Homo sapiens human 600018 MOP MOR LMOR MOR1 OPRM M-OR-1 This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013] opioid receptor, mu 1 KEGG pathway: Estrogen signaling pathway--- KEGG pathway: Morphine addiction--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction 154331631 154568001 + 6 OPRM1 Homo sapiens Annotation Release 105 6q24-q25 0 pathway-nonregistered-2016-03-17_02:31:49 57628 Homo sapiens human 608209 DPL2 DPPY DPRP3 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] dipeptidyl-peptidase 10 (non-functional) 115199899 116603328 + 2 DPP10 Homo sapiens Annotation Release 105 2q14.1 0 pathway-nonregistered-2016-03-17_02:31:49 200162 Homo sapiens human PF6 RP4-776P7.2 sperm associated antigen 17 118496288 118727848 - 1 SPAG17 Homo sapiens Annotation Release 105 1p12 0 pathway-nonregistered-2016-03-17_02:31:49 10279 Homo sapiens human 607169 TSSP This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] protease, serine, 16 (thymus) 27215480 27224399 + 6 PRSS16 Homo sapiens Annotation Release 105 6p21 0 pathway-nonregistered-2016-03-17_02:31:49 65065 Homo sapiens human 609816 ALS2CR16 ALS2CR17 A530083I02Rik neurobeachin-like 1 203879597 204091101 + 2 NBEAL1 Homo sapiens Annotation Release 105 2q33.2 0 pathway-nonregistered-2016-03-17_02:31:49 8492 Homo sapiens human 606709 MRT1 BSSP3 BSSP-3 This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010] protease, serine, 12 (neurotrypsin, motopsin) 119201193 119274053 - 4 PRSS12 Homo sapiens Annotation Release 105 4q28.1 0 pathway-nonregistered-2016-03-17_02:31:49 4547 Homo sapiens human 157147 ABL MTP MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] microsomal triglyceride transfer protein KEGG pathway: Fat digestion and absorption--- Reactome Event:Metabolism 100485240 100545154 + 4 MTTP Homo sapiens Annotation Release 105 4q24 0 pathway-nonregistered-2016-03-17_02:31:49 24 Homo sapiens human 601691 FFM RMP ABCR RP19 STGD ABC10 ARMD2 CORD3 STGD1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] ATP-binding cassette, sub-family A (ABC1), member 4 KEGG pathway: ABC transporters--- Reactome Event:Signal Transduction--- Reactome Event:Disease--- Reactome Event:Transmembrane transport of small molecules 94458393 94586705 - 1 ABCA4 Homo sapiens Annotation Release 105 1p22 0 pathway-nonregistered-2016-03-17_02:31:49 23268 Homo sapiens human 611282 TUBA ARHGEF36 RP11-114F7.3 DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation of cell junctions (Otani et al., 2006 [PubMed 17015620]).[supplied by OMIM, Mar 2008] dynamin binding protein 101635334 101769676 - 10 DNMBP Homo sapiens Annotation Release 105 10q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 341640 Homo sapiens human 608945 This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Jul 2008] FRAS1 related extracellular matrix protein 2 39261173 39461268 + 13 FREM2 Homo sapiens Annotation Release 105 13q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 51103 Homo sapiens human 606934 CGI65 CIA30 CGI-65 This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 41679547 41694658 - 15 NDUFAF1 Homo sapiens Annotation Release 105 15q11.2-q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 1303 Homo sapiens human 120320 COL12A1L BA209D8.1 DJ234P15.1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] collagen, type XII, alpha 1 KEGG pathway: Protein digestion and absorption--- Reactome Event:Extracellular matrix organization 75794042 75915623 - 6 COL12A1 Homo sapiens Annotation Release 105 6q12-q13 0 pathway-nonregistered-2016-03-17_02:31:49 2051 Homo sapiens human 602757 HEP This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] EPH receptor B6 KEGG pathway: Axon guidance 142552776 142568847 + 7 EPHB6 Homo sapiens Annotation Release 105 7q33-q35 0 pathway-nonregistered-2016-03-17_02:31:49 2042 Homo sapiens human 179611 EK4 ETK HEK ETK1 HEK4 TYRO4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] EPH receptor A3 KEGG pathway: Axon guidance 89156674 89531284 + 3 EPHA3 Homo sapiens Annotation Release 105 3p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 2044 Homo sapiens human 600004 EK7 CEK7 EHK1 HEK7 EHK-1 TYRO4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] EPH receptor A5 KEGG pathway: Axon guidance 66185281 66536529 - 4 EPHA5 Homo sapiens Annotation Release 105 4q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 8930 Homo sapiens human 603574 MED1 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] methyl-CpG binding domain protein 4 KEGG pathway: Base excision repair--- Reactome Event:DNA Repair 129149787 129159022 - 3 MBD4 Homo sapiens Annotation Release 105 3q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 2530 Homo sapiens human 602589 This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] fucosyltransferase 8 (alpha (1,6) fucosyltransferase) KEGG pathway: N-Glycan biosynthesis--- KEGG pathway: Metabolic pathways--- KEGG pathway: Glycosaminoglycan biosynthesis - keratan sulfate--- KEGG pathway: Transcriptional misregulation in cancer--- Reactome Event:Signal Transduction--- Reactome Event:Metabolism of proteins 65877310 66210839 + 14 FUT8 Homo sapiens Annotation Release 105 14q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 219931 Homo sapiens human 612163 TPC2 SHEP10 This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] two pore segment channel 2 KEGG pathway: Pancreatic secretion--- Reactome Event:Transmembrane transport of small molecules 68816350 68858072 + 11 TPCN2 Homo sapiens Annotation Release 105 11q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 85413 Homo sapiens human 608276 CT2 OAT6 OCT6 OKB1 FLIPT2 dJ261K5.1 This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] solute carrier family 22 (organic cation/carnitine transporter), member 16 Reactome Event:Transmembrane transport of small molecules 110745890 110797844 - 6 SLC22A16 Homo sapiens Annotation Release 105 6q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 5362 Homo sapiens human 601054 OCT PLXN2 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008] plexin A2 KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology 208195587 208417665 - 1 PLXNA2 Homo sapiens Annotation Release 105 1q32.2 0 pathway-nonregistered-2016-03-17_02:31:49 63027 Homo sapiens human 611697 C6orf85 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] solute carrier family 22, member 23 3269207 3456954 - 6 SLC22A23 Homo sapiens Annotation Release 105 6p25.2 0 pathway-nonregistered-2016-03-17_02:31:49 6948 Homo sapiens human 613441 II TC TC2 TC-2 TCII TC II D22S676 D22S750 This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] transcobalamin II KEGG pathway: Vitamin digestion and absorption--- Reactome Event:Disease--- Reactome Event:Metabolism 31003070 31023047 + 22 TCN2 Homo sapiens Annotation Release 105 22q12.2 0 pathway-nonregistered-2016-03-17_02:31:49 10154 Homo sapiens human 604259 CD232 VESPR PLXN-C1 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] plexin C1 KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology 94542499 94701451 + 12 PLXNC1 Homo sapiens Annotation Release 105 12q23.3 0 pathway-nonregistered-2016-03-17_02:31:49 55720 Homo sapiens human 611214 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 2225972 2240678 - 17 TSR1 Homo sapiens Annotation Release 105 17p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 91289 Homo sapiens human TMEM153 TMEM112B lipase maturation factor 2 50941376 50946148 - 22 LMF2 Homo sapiens Annotation Release 105 22q13.33 0 pathway-nonregistered-2016-03-17_02:31:49 340359 Homo sapiens human C8ORFK36 kelch-like family member 38 124657743 124666041 - 8 KLHL38 Homo sapiens Annotation Release 105 8q24.13 0 pathway-nonregistered-2016-03-17_02:31:49 377007 Homo sapiens human kelch-like family member 30 239047310 239061547 + 2 KLHL30 Homo sapiens Annotation Release 105 2q37.3 0 pathway-nonregistered-2016-03-17_02:31:49 3488 Homo sapiens human 146734 IBP5 insulin-like growth factor binding protein 5 Reactome Event:Metabolism of proteins 217536828 217560272 - 2 IGFBP5 Homo sapiens Annotation Release 105 2q33-q36 0 pathway-nonregistered-2016-03-17_02:31:49 23224 Homo sapiens human 608442 NUA EDMD5 Nesp2 TROPH NUANCE SYNE-2 Nesprin-2 The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] spectrin repeat containing, nuclear envelope 2 Reactome Event:Meiosis--- Reactome Event:Cell Cycle 64319683 64693167 + 14 SYNE2 Homo sapiens Annotation Release 105 14q23.2 0 pathway-nonregistered-2016-03-17_02:31:49 93107 Homo sapiens human 607603 KV6.3 KV6.4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] potassium voltage-gated channel, subfamily G, member 4 Reactome Event:Neuronal System 84254741 84273356 - 16 KCNG4 Homo sapiens Annotation Release 105 16q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 4811 Homo sapiens human 131390 NID This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008] nidogen 1 Reactome Event:Extracellular matrix organization 236139130 236228481 - 1 NID1 Homo sapiens Annotation Release 105 1q43 0 pathway-nonregistered-2016-03-17_02:31:49 8906 Homo sapiens human 603534 G2AD Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. Several alternatively spliced transcript variants of this gene exist, but their full-length nature is not known. [provided by RefSeq, Aug 2013] adaptor-related protein complex 1, gamma 2 subunit KEGG pathway: Lysosome 24028777 24038754 - 14 AP1G2 Homo sapiens Annotation Release 105 14q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 8633 Homo sapiens human 603610 UNC5H3 This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008] unc-5 homolog C (C. elegans) KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology 96083655 96470361 - 4 UNC5C Homo sapiens Annotation Release 105 4q21-q23 0 pathway-nonregistered-2016-03-17_02:31:49 54887 Homo sapiens human ICBP90 C6orf107 dJ349A12.1 RP3-349A12.1 UHRF1 binding protein 1 34759794 34845291 + 6 UHRF1BP1 Homo sapiens Annotation Release 105 6p21 0 pathway-nonregistered-2016-03-17_02:31:49 10881 Homo sapiens human 604303 The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008] actin-like 7A 111624603 111626035 + 9 ACTL7A Homo sapiens Annotation Release 105 9q31 0 pathway-nonregistered-2016-03-17_02:31:49 1301 Homo sapiens human 120280 STL2 COLL6 CO11A1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] collagen, type XI, alpha 1 No evidence available (Last evaluated (2013-06-18)--- Little evidence for dosage pathogenicity (Last evaluated (2013-06-18) KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Protein digestion and absorption--- KEGG pathway: Amoebiasis--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Focal adhesion--- Reactome Event:Extracellular matrix organization 103342023 103574052 - 1 COL11A1 Homo sapiens Annotation Release 105 1p21 0 pathway-nonregistered-2016-03-17_02:31:49 10290 Homo sapiens human BPEG APEG1 APEG-1 SPEGbeta SPEGalpha This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010] SPEG complex locus 220299552 220358354 + 2 SPEG Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 27123 Homo sapiens human 605415 DKK-2 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] dickkopf WNT signaling pathway inhibitor 2 KEGG pathway: Wnt signaling pathway 107842959 107957453 - 4 DKK2 Homo sapiens Annotation Release 105 4q25 0 pathway-nonregistered-2016-03-17_02:31:49 53353 Homo sapiens human 608766 LRPDIT LRP-DIT LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM, Mar 2008] low density lipoprotein receptor-related protein 1B 140988996 142889270 - 2 LRP1B Homo sapiens Annotation Release 105 2q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 2053 Homo sapiens human 132811 CEH SEH This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] epoxide hydrolase 2, cytoplasmic KEGG pathway: Metabolic pathways--- KEGG pathway: Arachidonic acid metabolism--- KEGG pathway: Peroxisome--- Reactome Event:Metabolism 27348519 27402439 + 8 EPHX2 Homo sapiens Annotation Release 105 8p21 0 pathway-nonregistered-2016-03-17_02:31:49 2622 Homo sapiens human 605178 GAS11 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] growth arrest-specific 8 90086056 90111379 + 16 GAS8 Homo sapiens Annotation Release 105 16q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 54433 Homo sapiens human 606468 NOLA1 This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008] GAR1 ribonucleoprotein KEGG pathway: Ribosome biogenesis in eukaryotes 110736666 110745893 + 4 GAR1 Homo sapiens Annotation Release 105 4q25 0 pathway-nonregistered-2016-03-17_02:31:49 4323 Homo sapiens human 600754 MMP-14 MMP-X1 MT-MMP MT1MMP MTMMP1 WNCHRS MT1-MMP MT-MMP 1 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008] matrix metallopeptidase 14 (membrane-inserted) KEGG pathway: GnRH signaling pathway--- KEGG pathway: TNF signaling pathway--- Reactome Event:Extracellular matrix organization 23305742 23316809 + 14 MMP14 Homo sapiens Annotation Release 105 14q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 152404 Homo sapiens human 608351 CT119 VSIG3 Igsf13 BT-IgSF CXADRL1 IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005] immunoglobulin superfamily, member 11 118619477 118864915 - 3 IGSF11 Homo sapiens Annotation Release 105 3q13.32 0 pathway-nonregistered-2016-03-17_02:31:49 54221 Homo sapiens human 608715 SYN5 G2SYN This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] syntrophin, gamma 2 946554 1371401 + 2 SNTG2 Homo sapiens Annotation Release 105 2p25.3 0 pathway-nonregistered-2016-03-17_02:31:49 11037 Homo sapiens human 605357 SALF SBLF STN1 STNB1 Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] stonin 1 48757308 48825654 + 2 STON1 Homo sapiens Annotation Release 105 2p16.3 0 pathway-nonregistered-2016-03-17_02:31:49 286749 Homo sapiens human SALF STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010] STON1-GTF2A1L readthrough 48757064 49003656 + 2 STON1-GTF2A1L Homo sapiens Annotation Release 105 2p16.3 0 pathway-nonregistered-2016-03-17_02:31:49 23026 Homo sapiens human 615479 MYR8 MYAP3 NYAP3 Myo16b myosin XVI 109248500 109860355 + 13 MYO16 Homo sapiens Annotation Release 105 13q33.3 0 pathway-nonregistered-2016-03-17_02:31:49 285135 Homo sapiens human fibrous sheath interacting protein 2 186318512 186339521 + 2 FSIP2 Build 36.2 (NOTE: not current) 2q32.1 0 pathway-nonregistered-2016-03-17_02:31:49 338 Homo sapiens human 107730 FLDB LDLCQ4 This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] apolipoprotein B The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in APOB that are pathogenic or expected to be pathogenic. KEGG pathway: Vitamin digestion and absorption--- KEGG pathway: Fat digestion and absorption--- Reactome Event:Metabolism--- Reactome Event:Hemostasis--- Reactome Event:Binding and Uptake of Ligands by Scavenger Receptors--- Reactome Event:Disease--- Reactome Event:Signal Transduction 21224301 21266945 - 2 APOB Homo sapiens Annotation Release 105 2p24-p23 0 pathway-nonregistered-2016-03-17_02:31:49 4649 Homo sapiens human 604875 This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011] myosin IXA 72114632 72410440 - 15 MYO9A Homo sapiens Annotation Release 105 15q22-q23 0 pathway-nonregistered-2016-03-17_02:31:49 3417 Homo sapiens human 147700 IDH IDP IDCD IDPC PICD Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] isocitrate dehydrogenase 1 (NADP+), soluble KEGG pathway: Metabolic pathways--- KEGG pathway: Glutathione metabolism--- KEGG pathway: Carbon metabolism--- KEGG pathway: 2-Oxocarboxylic acid metabolism--- KEGG pathway: Citrate cycle (TCA cycle)--- KEGG pathway: Biosynthesis of amino acids--- KEGG pathway: Peroxisome--- Reactome Event:Disease--- Reactome Event:Metabolism 209100951 209120478 - 2 IDH1 Homo sapiens Annotation Release 105 2q33.3 0 pathway-nonregistered-2016-03-17_02:31:49 151056 Homo sapiens human 610179 PLB hPLB PLB/LIP phospholipase B1 KEGG pathway: Glycerophospholipid metabolism--- KEGG pathway: Arachidonic acid metabolism--- KEGG pathway: alpha-Linolenic acid metabolism--- KEGG pathway: Linoleic acid metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Ether lipid metabolism--- KEGG pathway: Vitamin digestion and absorption 28718938 28866654 + 2 PLB1 Homo sapiens Annotation Release 105 2p23.2 0 pathway-nonregistered-2016-03-17_02:31:49 3886 Homo sapiens human 602764 HA5 Ha-5 hHa5 KRTHA5 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] keratin 35 39632941 39637392 - 17 KRT35 Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 3882 Homo sapiens human 602760 HA2 HKA2 hHa2 KRTHA2 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] keratin 32 39615765 39623638 - 17 KRT32 Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 8688 Homo sapiens human 604541 HA7 K37 KRTHA7 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] keratin 37 39576809 39580822 - 17 KRT37 Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 4648 Homo sapiens human 606541 myosin VIIB 128293378 128395303 + 2 MYO7B Homo sapiens Annotation Release 105 2q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 223117 Homo sapiens human 609907 coll-2 Sema-Z2 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D KEGG pathway: Axon guidance 84624508 84816171 - 7 SEMA3D Homo sapiens Annotation Release 105 7q21.11 0 pathway-nonregistered-2016-03-17_02:31:49 54798 Homo sapiens human 612486 CDHJ CDH27 CDHR7 PCDHJ PCDH23 dachsous cadherin-related 2 155155527 155412930 - 4 DCHS2 Homo sapiens Annotation Release 105 4q31.3 0 pathway-nonregistered-2016-03-17_02:31:49 4645 Homo sapiens human 606540 The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] myosin VB Reactome Event:Transmembrane transport of small molecules 47349156 47721542 - 18 MYO5B Homo sapiens Annotation Release 105 18q21 0 pathway-nonregistered-2016-03-17_02:31:49 7273 Homo sapiens human 188840 TMD CMH9 CMD1G CMPD4 EOMFC HMERF MYLK5 LGMD2J This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012] titin KEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Hypertrophic cardiomyopathy (HCM) 179390716 179672150 - 2 TTN Homo sapiens Annotation Release 105 2q31 0 pathway-nonregistered-2016-03-17_02:31:49 8456 Homo sapiens human 600838 WHN RONU FKHL20 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008] forkhead box N1 26833249 26865175 + 17 FOXN1 Homo sapiens Annotation Release 105 17q11-q12 0 pathway-nonregistered-2016-03-17_02:31:49 26278 Homo sapiens human 604490 ARSACS DNAJC29 This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] spastic ataxia of Charlevoix-Saguenay (sacsin) 23902962 24007867 - 13 SACS Homo sapiens Annotation Release 105 13q12 0 pathway-nonregistered-2016-03-17_02:31:49 125115 Homo sapiens human K40 KA36 CK-40 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] keratin 40 39133968 39143387 - 17 KRT40 Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 2305 Homo sapiens human 602341 MPP2 TGT3 HFH11 HNF-3 INS-1 MPP-2 PIG29 FKHL16 FOXM1B HFH-11 TRIDENT MPHOSPH2 The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] forkhead box M1 Reactome Event:Cell Cycle 2966846 2986321 - 12 FOXM1 Homo sapiens Annotation Release 105 12p13 0 pathway-nonregistered-2016-03-17_02:31:49 3371 Homo sapiens human 187380 GP JI TN HXB GMEM TN-C DFNA56 150-225 This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011] tenascin C KEGG pathway: MicroRNAs in cancer--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Focal adhesion--- Reactome Event:Extracellular matrix organization 117781854 117880536 - 9 TNC Homo sapiens Annotation Release 105 9q33 0 pathway-nonregistered-2016-03-17_02:31:49 79887 Homo sapiens human phospholipase B domain containing 1 Reactome Event:Metabolism 14656597 14720791 - 12 PLBD1 Homo sapiens Annotation Release 105 12p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 124842 Homo sapiens human transmembrane protein 132E 32907768 32966337 + 17 TMEM132E Homo sapiens Annotation Release 105 17q12 0 pathway-nonregistered-2016-03-17_02:31:49 7227 Homo sapiens human 604386 GC79 LGCR This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] trichorhinophalangeal syndrome I No evidence available (Last evaluated (2013-04-16)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-04-16) 116420724 116713299 - 8 TRPS1 Homo sapiens Annotation Release 105 8q24.12 0 pathway-nonregistered-2016-03-17_02:31:49 23245 Homo sapiens human 612856 bA67K19.1 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] astrotactin 2 119187504 120177317 - 9 ASTN2 Homo sapiens Annotation Release 105 9q33.1 0 pathway-nonregistered-2016-03-17_02:31:49 6400 Homo sapiens human 602329 SEL1L1 PRO1063 SEL1-LIKE The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] sel-1 suppressor of lin-12-like (C. elegans) KEGG pathway: Protein processing in endoplasmic reticulum 81937891 82000205 - 14 SEL1L Homo sapiens Annotation Release 105 14q31 0 pathway-nonregistered-2016-03-17_02:31:49 364 Homo sapiens human 602974 AQP9 AQP7L AQPap GLYCQTL Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq, Jul 2008] aquaporin 7 KEGG pathway: PPAR signaling pathway--- Reactome Event:Transmembrane transport of small molecules 33384948 33402643 - 9 AQP7 Homo sapiens Annotation Release 105 9p13 0 pathway-nonregistered-2016-03-17_02:31:49 8728 Homo sapiens human 603640 MLTNB FKSG34 MADDAM This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] ADAM metallopeptidase domain 19 156822071 157002831 - 5 ADAM19 Homo sapiens Annotation Release 105 5q33.3 0 pathway-nonregistered-2016-03-17_02:31:49 9098 Homo sapiens human 604334 HRP1 TRE2 TRE17 Tre-2 USP6-short ubiquitin specific peptidase 6 (Tre-2 oncogene) 5031687 5078327 + 17 USP6 Homo sapiens Annotation Release 105 17p13 0 pathway-nonregistered-2016-03-17_02:31:49 9721 Homo sapiens human 611240 GRIN2 KIAA0514 G protein regulated inducer of neurite outgrowth 2 46993003 47005654 + 10 GPRIN2 Homo sapiens Annotation Release 105 10q11.22 0 pathway-nonregistered-2016-03-17_02:31:49 259232 Homo sapiens human 611549 INNFD CanIon VGCNL1 bA430M15.1 NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008] sodium leak channel, non-selective Reactome Event:Transmembrane transport of small molecules 101706130 102068813 - 13 NALCN Homo sapiens Annotation Release 105 13q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 4646 Homo sapiens human 600970 DFNA22 DFNB37 This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq, Jul 2008] myosin VI Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).--- Genetic forms of hearing loss must be distinguished from acquired (non-genetic) causes of hearing loss. The genetic forms of hearing loss are diagnosed by otologic, audiologic, and physical examination, family history, ancillary testing (e.g., CT examination of the temporal bone), and molecular genetic testing. Molecular genetic testing, possible for many types of syndromic and nonsyndromic deafness, plays a prominent role in diagnosis and genetic counseling.--- Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by mitochondrial inheritance. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis. In the absence of a specific diagnosis, empiric recurrence risk figures, coupled with GJB2 and GJB6 molecular genetic testing results, can be used for genetic counseling. Reactome Event:Membrane Trafficking--- Reactome Event:Neuronal System 76458893 76629254 + 6 MYO6 Homo sapiens Annotation Release 105 6q13 0 pathway-nonregistered-2016-03-17_02:31:49 8997 Homo sapiens human 604605 DUO CHD5 DUET TRAD CHDS5 HAPIP ARHGEF24 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] kalirin, RhoGEF kinase Reactome Event:Signal Transduction 123813558 124440036 + 3 KALRN Homo sapiens Annotation Release 105 3q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 2581 Homo sapiens human 606890 This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] galactosylceramidase KEGG pathway: Lysosome--- KEGG pathway: Sphingolipid metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 88304164 88460009 - 14 GALC Homo sapiens Annotation Release 105 14q31 0 pathway-nonregistered-2016-03-17_02:31:49 4638 Homo sapiens human 600922 KRP AAT7 MLCK MLCK1 MYLK1 smMLCK MLCK108 MLCK210 MSTP083 This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008] myosin light chain kinase The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYLK that are pathogenic or expected to be pathogenic. KEGG pathway: Vascular smooth muscle contraction--- KEGG pathway: Focal adhesion--- KEGG pathway: Regulation of actin cytoskeleton--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Gastric acid secretion--- Reactome Event:Muscle contraction 123331143 123603149 - 3 MYLK Homo sapiens Annotation Release 105 3q21 0 pathway-nonregistered-2016-03-17_02:31:49 64333 Homo sapiens human 610576 10C RGL1 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Rho GTPase activating protein 9 57866038 57882756 - 12 ARHGAP9 Homo sapiens Annotation Release 105 12q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 26509 Homo sapiens human 604603 FER1L3 Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] myoferlin 95066186 95242190 - 10 MYOF Homo sapiens Annotation Release 105 10q24 0 pathway-nonregistered-2016-03-17_02:31:49 57666 Homo sapiens human fibrosin-like 1 133067041 133161774 + 12 FBRSL1 Homo sapiens Annotation Release 105 12q24.33 0 pathway-nonregistered-2016-03-17_02:31:49 5470 Homo sapiens human 602256 PPP7CB This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] protein phosphatase, EF-hand calcium binding domain 2 76781025 76823681 - 4 PPEF2 Homo sapiens Annotation Release 105 4q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 57620 Homo sapiens human 610841 This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009] stromal interaction molecule 2 KEGG pathway: Calcium signaling pathway 26859329 27027003 + 4 STIM2 Homo sapiens Annotation Release 105 4p15.2 0 pathway-nonregistered-2016-03-17_02:31:49 11120 Homo sapiens human 613590 BTF1 BT2.1 DJ3E1.1 BK14H9.1 This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] butyrophilin, subfamily 2, member A1 26458132 26476849 + 6 BTN2A1 Homo sapiens Annotation Release 105 6p22.1 0 pathway-nonregistered-2016-03-17_02:31:49 374308 Homo sapiens human 611791 PTR patched domain containing 3 27687117 27703297 - 10 PTCHD3 Homo sapiens Annotation Release 105 10p12.1 0 pathway-nonregistered-2016-03-17_02:31:49 26686 Homo sapiens human OR14-42 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] olfactory receptor, family 4, subfamily E, member 2 KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction 22133297 22134238 + 14 OR4E2 Homo sapiens Annotation Release 105 14q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 1756 Homo sapiens human 300377 BMD CMD3B DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272 The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008] dystrophin No evidence available (Last evaluated (2013-06-26)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-26) KEGG pathway: Hypertrophic cardiomyopathy (HCM)--- KEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Viral myocarditis--- KEGG pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC)--- Reactome Event:Extracellular matrix organization--- Reactome Event:Muscle contraction 31137345 33357726 - X DMD Homo sapiens Annotation Release 105 Xp21.2 0 pathway-nonregistered-2016-03-17_02:31:49 23302 Homo sapiens human WSC domain containing 1 5972426 6027747 + 17 WSCD1 Homo sapiens Annotation Release 105 17p13.2 0 pathway-nonregistered-2016-03-17_02:31:49 92797 Homo sapiens human 614539 hDHB This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. [provided by RefSeq, Mar 2012] helicase (DNA) B 66696335 66737423 + 12 HELB Homo sapiens Annotation Release 105 12q14.3 0 pathway-nonregistered-2016-03-17_02:31:49 27185 Homo sapiens human 605210 SCZD9 C1orf136 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] disrupted in schizophrenia 1 No evidence available (Last evaluated (2013-05-14)--- No evidence available (Last evaluated (2013-05-14) 231762561 232177018 + 1 DISC1 Homo sapiens Annotation Release 105 1q42.1 0 pathway-nonregistered-2016-03-17_02:31:49 3682 Homo sapiens human 604682 CD103 HUMINAE Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) KEGG pathway: Regulation of actin cytoskeleton--- Reactome Event:Extracellular matrix organization 3617919 3704537 - 17 ITGAE Homo sapiens Annotation Release 105 17p13 0 pathway-nonregistered-2016-03-17_02:31:49 81624 Homo sapiens human 614567 AN DIA2 DRF3 AUNA1 NSDAN diap3 mDia2 This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] diaphanous-related formin 3 KEGG pathway: Regulation of actin cytoskeleton 60239717 60738119 - 13 DIAPH3 Homo sapiens Annotation Release 105 13q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 50628 Homo sapiens human 606969 p97 HC56 HCAP1 HHRF-1 The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] gem (nuclear organelle) associated protein 4 KEGG pathway: RNA transport--- Reactome Event:Gene Expression 647661 656038 - 17 GEMIN4 Homo sapiens Annotation Release 105 17p13 0 pathway-nonregistered-2016-03-17_02:31:49 7450 Homo sapiens human 613160 VWD F8VWF The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] von Willebrand factor KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Complement and coagulation cascades--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Focal adhesion--- Reactome Event:Hemostasis--- Reactome Event:Signal Transduction 6058040 6233836 - 12 VWF Homo sapiens Annotation Release 105 12p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 2935 Homo sapiens human 139259 GST1 ETF3A eRF3a 551G9.2 G1 to S phase transition 1 KEGG pathway: mRNA surveillance pathway 11961985 12010519 - 16 GSPT1 Homo sapiens Annotation Release 105 16p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 57605 Homo sapiens human 608920 NIR3 NIR-3 RDGB2 RDGBA2 PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] phosphatidylinositol transfer protein, membrane-associated 2 123468027 123635376 - 12 PITPNM2 Homo sapiens Annotation Release 105 12q24.31 0 pathway-nonregistered-2016-03-17_02:31:49 80212 Homo sapiens human coiled-coil domain containing 92 124420955 124457373 - 12 CCDC92 Homo sapiens Annotation Release 105 12q24.31 0 pathway-nonregistered-2016-03-17_02:31:49 220047 Homo sapiens human HSD9 coiled-coil domain containing 83 85566144 85631064 + 11 CCDC83 Homo sapiens Annotation Release 105 11q14.1-q14.2 0 pathway-nonregistered-2016-03-17_02:31:49 65217 Homo sapiens human 605514 USH1F CDHR15 DFNB23 This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] protocadherin-related 15 Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).--- Genetic forms of hearing loss must be distinguished from acquired (non-genetic) causes of hearing loss. The genetic forms of hearing loss are diagnosed by otologic, audiologic, and physical examination, family history, ancillary testing (e.g., CT examination of the temporal bone), and molecular genetic testing. Molecular genetic testing, possible for many types of syndromic and nonsyndromic deafness, plays a prominent role in diagnosis and genetic counseling.--- Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by mitochondrial inheritance. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis. In the absence of a specific diagnosis, empiric recurrence risk figures, coupled with GJB2 and GJB6 molecular genetic testing results, can be used for genetic counseling. 55562531 56561051 - 10 PCDH15 Homo sapiens Annotation Release 105 10q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 339965 Homo sapiens human coiled-coil domain containing 158 77234192 77333285 - 4 CCDC158 Homo sapiens Annotation Release 105 4q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 149465 Homo sapiens human 614259 VWS2 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] WD repeat domain 65 43638001 43720029 + 1 WDR65 Homo sapiens Annotation Release 105 1p34.2 0 pathway-nonregistered-2016-03-17_02:31:49 283431 Homo sapiens human G2L3 growth arrest-specific 2 like 3 100967446 101020657 + 12 GAS2L3 Homo sapiens Annotation Release 105 12q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 6927 Homo sapiens human 142410 HNF1 LFB1 TCF1 MODY3 TCF-1 HNF-1A IDDM20 The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009] HNF1 homeobox A KEGG pathway: Maturity onset diabetes of the young 121415861 121440315 + 12 HNF1A Homo sapiens Annotation Release 105 12q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 283208 Homo sapiens human 608987 This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] prolyl 4-hydroxylase, alpha polypeptide III KEGG pathway: Arginine and proline metabolism--- KEGG pathway: Metabolic pathways 73958532 74022699 - 11 P4HA3 Homo sapiens Annotation Release 105 11q13.4 0 pathway-nonregistered-2016-03-17_02:31:49 1804 Homo sapiens human 126141 VF2 DPPX This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] dipeptidyl-peptidase 6 153584419 154264025 + 7 DPP6 Homo sapiens Annotation Release 105 7q36.2 0 pathway-nonregistered-2016-03-17_02:31:49 9172 Homo sapiens human 603509 TTNAP The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] myomesin 2 1993082 2093380 + 8 MYOM2 Homo sapiens Annotation Release 105 8p23.3 0 pathway-nonregistered-2016-03-17_02:31:49 116966 Homo sapiens human 609005 This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009] WD repeat domain 17 176986985 177103979 + 4 WDR17 Homo sapiens Annotation Release 105 4q34 0 pathway-nonregistered-2016-03-17_02:31:49 23600 Homo sapiens human 604489 RM RACE CBAS4 AMACRD This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] alpha-methylacyl-CoA racemase KEGG pathway: Peroxisome--- KEGG pathway: Metabolic pathways--- KEGG pathway: Primary bile acid biosynthesis--- Reactome Event:Metabolism 33987091 34008220 - 5 AMACR Homo sapiens Annotation Release 105 5p13 0 pathway-nonregistered-2016-03-17_02:31:49 346007 Homo sapiens human 612424 RP25 SPAM EGFL10 EGFL11 C6orf178 C6orf179 C6orf180 bA74E24.1 dJ22I17.2 bA166P24.2 bA307F22.3 dJ1018A4.2 dJ303F19.1 The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] eyes shut homolog (Drosophila) 64429876 66417118 - 6 EYS Homo sapiens Annotation Release 105 6q12 0 pathway-nonregistered-2016-03-17_02:31:49 27148 Homo sapiens human 607652 FU This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] serine/threonine kinase 36 KEGG pathway: Hedgehog signaling pathway--- KEGG pathway: Basal cell carcinoma--- KEGG pathway: Pathways in cancer 219536749 219567440 + 2 STK36 Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 2960 Homo sapiens human 189962 FE TF2E1 TFIIE-A general transcription factor IIE, polypeptide 1, alpha 56kDa KEGG pathway: Basal transcription factors--- KEGG pathway: Viral carcinogenesis--- KEGG pathway: Epstein-Barr virus infection--- Reactome Event:Disease--- Reactome Event:Gene Expression 120461558 120502216 + 3 GTF2E1 Homo sapiens Annotation Release 105 3q21-q24 0 pathway-nonregistered-2016-03-17_02:31:49 259266 Homo sapiens human 605481 ASP MCPH5 Calmbp1 This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 197053257 197115824 - 1 ASPM Homo sapiens Annotation Release 105 1q31 0 pathway-nonregistered-2016-03-17_02:31:49 11162 Homo sapiens human 606261 GFG1 GFG-1 ASFGF2 FGF-AS FGF2AS This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] nudix (nucleoside diphosphate linked moiety X)-type motif 6 123813799 123844159 - 4 NUDT6 Homo sapiens Annotation Release 105 4q26 0 pathway-nonregistered-2016-03-17_02:31:49 64779 Homo sapiens human methenyltetrahydrofolate synthetase domain containing 86563782 86588841 - 16 MTHFSD Homo sapiens Annotation Release 105 16q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 1801 Homo sapiens human 603527 DPH2L OVCA1 DPH2L1 Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] diphthamide biosynthesis 1 1933431 1947183 + 17 DPH1 Homo sapiens Annotation Release 105 17p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 84695 Homo sapiens human 607163 LOXL This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] lysyl oxidase-like 3 Reactome Event:Extracellular matrix organization 74759946 74781088 - 2 LOXL3 Homo sapiens Annotation Release 105 2p13 0 pathway-nonregistered-2016-03-17_02:31:49 23503 Homo sapiens human 612012 SPG15 FYVE-CENT This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] zinc finger, FYVE domain containing 26 68213237 68283306 - 14 ZFYVE26 Homo sapiens Annotation Release 105 14q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 25992 Homo sapiens human SST3 Snep sushi, nidogen and EGF-like domains 1 241938213 242038515 + 2 SNED1 Homo sapiens Annotation Release 105 2q37.3 0 pathway-nonregistered-2016-03-17_02:31:49 5426 Homo sapiens human 174762 FILS POLE1 CRCS12 This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] polymerase (DNA directed), epsilon, catalytic subunit KEGG pathway: Metabolic pathways--- KEGG pathway: Purine metabolism--- KEGG pathway: Base excision repair--- KEGG pathway: HTLV-I infection--- KEGG pathway: Nucleotide excision repair--- KEGG pathway: Pyrimidine metabolism--- KEGG pathway: DNA replication--- Reactome Event:DNA Replication--- Reactome Event:Cell Cycle--- Reactome Event:DNA Repair 133200344 133264050 - 12 POLE Homo sapiens Annotation Release 105 12q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 9857 Homo sapiens human GM133 CAP350 The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] centrosomal protein 350kDa 179923908 180084015 + 1 CEP350 Homo sapiens Annotation Release 105 1q25.2 0 pathway-nonregistered-2016-03-17_02:31:49 10721 Homo sapiens human 604419 POLH PRO0327 polymerase (DNA directed), theta 121150273 121264853 - 3 POLQ Homo sapiens Annotation Release 105 3q13.33 0 pathway-nonregistered-2016-03-17_02:31:49 84294 Homo sapiens human C8orf53 UTP23, small subunit (SSU) processome component, homolog (yeast) 117778742 117792449 + 8 UTP23 Homo sapiens Annotation Release 105 8q24.11 0 pathway-nonregistered-2016-03-17_02:31:49 79633 Homo sapiens human 612411 FATJ FAT-J CDHF14 CDHR11 VMLDS2 NBLA00548 This gene encodes a member of the protocadherin family and component of the Hippo signaling pathway. This gene may play a role in planar cell polarity and deficiencies have been associated with some cystic diseases and Van Maldergem Syndrome 2. Studies have identified this as a candidate for a breast tumor suppressor gene. [provided by RefSeq, Dec 2013] FAT atypical cadherin 4 126237003 126414087 + 4 FAT4 Homo sapiens Annotation Release 105 4q28.1 0 pathway-nonregistered-2016-03-17_02:31:49 130560 Homo sapiens human TSARG1 spermatogenesis associated 3 231860839 231884572 + 2 SPATA3 Homo sapiens Annotation Release 105 2q37.1 0 pathway-nonregistered-2016-03-17_02:31:49 9851 Homo sapiens human KIAA0753 6481645 6545066 - 17 KIAA0753 Homo sapiens Annotation Release 105 17p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 51196 Homo sapiens human 608414 PLCE PPLC NPHS3 This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] phospholipase C, epsilon 1 KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Ras signaling pathway--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Proteoglycans in cancer--- KEGG pathway: Phosphatidylinositol signaling system--- KEGG pathway: Rap1 signaling pathway--- Reactome Event:Metabolism 95753746 96088149 + 10 PLCE1 Homo sapiens Annotation Release 105 10q23 0 pathway-nonregistered-2016-03-17_02:31:49 284656 Homo sapiens human 611123 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008] EPH receptor A10 38181646 38230824 - 1 EPHA10 Homo sapiens Annotation Release 105 1p34.3 0 pathway-nonregistered-2016-03-17_02:31:49 2121 Homo sapiens human 604831 EVC1 EVCL DWF-1 This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] Ellis van Creveld syndrome 5712924 5816031 + 4 EVC Homo sapiens Annotation Release 105 4p16 0 pathway-nonregistered-2016-03-17_02:31:49 55127 Homo sapiens human BAP28 UTP10 RP11-385F5.3 HEAT repeat containing 1 KEGG pathway: Ribosome biogenesis in eukaryotes 236712305 236767841 - 1 HEATR1 Homo sapiens Annotation Release 105 1q43 0 pathway-nonregistered-2016-03-17_02:31:49 5336 Homo sapiens human 600220 FCAS3 APLAID RP11-510J16.3 The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. [provided by RefSeq, Sep 2011] phospholipase C, gamma 2 (phosphatidylinositol-specific) KEGG pathway: Calcium signaling pathway--- KEGG pathway: Fc epsilon RI signaling pathway--- KEGG pathway: Fc gamma R-mediated phagocytosis--- KEGG pathway: B cell receptor signaling pathway--- KEGG pathway: Epstein-Barr virus infection--- KEGG pathway: VEGF signaling pathway--- KEGG pathway: Pathways in cancer--- KEGG pathway: Osteoclast differentiation--- KEGG pathway: Epithelial cell signaling in Helicobacter pylori infection--- KEGG pathway: NF-kappa B signaling pathway--- KEGG pathway: Proteoglycans in cancer--- KEGG pathway: Phosphatidylinositol signaling system--- KEGG pathway: Natural killer cell mediated cytotoxicity--- KEGG pathway: Ras signaling pathway--- KEGG pathway: Metabolic pathways--- KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Leukocyte transendothelial migration--- KEGG pathway: HIF-1 signaling pathway--- KEGG pathway: Neurotrophin signaling pathway--- KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Non-small cell lung cancer--- KEGG pathway: Vibrio cholerae infection--- KEGG pathway: Glioma--- KEGG pathway: ErbB signaling pathway--- Reactome Event:Metabolism--- Reactome Event:Immune System--- Reactome Event:Hemostasis 81812899 81996290 + 16 PLCG2 Homo sapiens Annotation Release 105 16q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 2098 Homo sapiens human 133280 FGH This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] esterase D KEGG pathway: Carbon metabolism 47345391 47371423 - 13 ESD Homo sapiens Annotation Release 105 13q14.1-q14.2 0 pathway-nonregistered-2016-03-17_02:31:49 8549 Homo sapiens human 606667 FEX HG38 GPR49 GPR67 GRP49 leucine-rich repeat containing G protein-coupled receptor 5 KEGG pathway: Neuroactive ligand-receptor interaction 71832931 71980090 + 12 LGR5 Homo sapiens Annotation Release 105 12q22-q23 0 pathway-nonregistered-2016-03-17_02:31:49 50859 Homo sapiens human 607989 TES-3 TICN3 HSAJ1454 This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 167654535 168155741 - 4 SPOCK3 Homo sapiens Annotation Release 105 4q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 440275 Homo sapiens human 609280 GCN2 EIF2AK4 belongs to a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2S1; MIM 603907) to downregulate protein synthesis in response to varied cellular stresses (Berlanga et al., 1999 [PubMed 10504407]).[supplied by OMIM, Mar 2008] eukaryotic translation initiation factor 2 alpha kinase 4 KEGG pathway: Influenza A--- KEGG pathway: Epstein-Barr virus infection--- KEGG pathway: Hepatitis C--- KEGG pathway: Protein processing in endoplasmic reticulum--- KEGG pathway: Herpes simplex infection--- KEGG pathway: Measles 40226331 40327797 + 15 EIF2AK4 Homo sapiens Annotation Release 105 15q15.1 0 pathway-nonregistered-2016-03-17_02:31:49 131669 Homo sapiens human 613012 HMFN0320 This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] urocanate hydratase 1 KEGG pathway: Histidine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 126200008 126236616 - 3 UROC1 Homo sapiens Annotation Release 105 3q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 273 Homo sapiens human 600418 AMPH1 This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] amphiphysin KEGG pathway: Fc gamma R-mediated phagocytosis 38423297 38671167 - 7 AMPH Homo sapiens Annotation Release 105 7p14-p13 0 pathway-nonregistered-2016-03-17_02:31:49 132884 Homo sapiens human 607261 LBN This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Ellis van Creveld syndrome 2 5544531 5711275 - 4 EVC2 Homo sapiens Annotation Release 105 4p16.2-p16.1 0 pathway-nonregistered-2016-03-17_02:31:49 201456 Homo sapiens human 609093 FBX15 Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] F-box protein 15 71740588 71815100 - 18 FBXO15 Homo sapiens Annotation Release 105 18q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 11153 Homo sapiens human HYPE HIP13 UNQ3041 FIC domain containing 108909051 108913380 + 12 FICD Homo sapiens Annotation Release 105 12q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 23414 Homo sapiens human 603693 DIH3 FOG2 ZNF89B hFOG-2 ZC2HC11B The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] zinc finger protein, FOG family member 2 No evidence available (Last evaluated (2013-04-16)--- Some evidence for dosage pathogenicity (Last evaluated (2013-04-16) KEGG pathway: MicroRNAs in cancer--- Reactome Event:Hemostasis 106330917 106816767 + 8 ZFPM2 Homo sapiens Annotation Release 105 8q23 0 pathway-nonregistered-2016-03-17_02:31:49 342125 Homo sapiens human transmembrane channel-like 3 81624760 81666418 - 15 TMC3 Homo sapiens Annotation Release 105 15q25.1 0 pathway-nonregistered-2016-03-17_02:31:49 617 Homo sapiens human 603647 BCS BJS PTD BCS1 FLNMS h-BCS MC3DN1 GRACILE Hs.6719 This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] BC1 (ubiquinol-cytochrome c reductase) synthesis-like Reactome Event:Metabolism of proteins 219524379 219528166 + 2 BCS1L Homo sapiens Annotation Release 105 2q33 0 pathway-nonregistered-2016-03-17_02:31:49 347088 Homo sapiens human PGR24 G protein-coupled receptor 144 127213423 127239379 + 9 GPR144 Homo sapiens Annotation Release 105 9q33.3 0 pathway-nonregistered-2016-03-17_02:31:49 80781 Homo sapiens human 120328 KS KNO KNO1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] collagen, type XVIII, alpha 1 KEGG pathway: Protein digestion and absorption 46825058 46933634 + 21 COL18A1 Homo sapiens Annotation Release 105 21q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 90485 Homo sapiens human BC37295_3 zinc finger protein 835 57173729 57183151 - 19 ZNF835 Homo sapiens Annotation Release 105 19q13.43 0 pathway-nonregistered-2016-03-17_02:31:49 60529 Homo sapiens human 605420 CRS5 FND2 This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] ALX homeobox 4 No evidence available (Last evaluated (2013-06-11)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-11) 44282278 44331735 - 11 ALX4 Homo sapiens Annotation Release 105 11p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 1770 Homo sapiens human 603330 DYH9 HL20 DNEL1 HL-20 Dnahc9 DNAH17L This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] dynein, axonemal, heavy chain 9 11501748 11873065 + 17 DNAH9 Homo sapiens Annotation Release 105 17p12 0 pathway-nonregistered-2016-03-17_02:31:49 56171 Homo sapiens human 610061 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] dynein, axonemal, heavy chain 7 196602427 196933536 - 2 DNAH7 Homo sapiens Annotation Release 105 2q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 27019 Homo sapiens human 604366 PCD DIC1 ICS1 CILD1 This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] dynein, axonemal, intermediate chain 1 Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term neonates with PCD have 'neonatal respiratory distress' requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with PCD are infertile as a result of abnormal sperm motility.--- The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either (1) specific ciliary ultrastructural defects identified by transmission electron microscopy in biopsy samples of the respiratory epithelium or (2) mutation in one of seventeen genes known to be associated with PCD: DNAI1, DNAAF3, DNAH5, HYDIN, NME8, DNAH11, DNAI2, DNAAF2 (C14orf104), RSPH4A, RSPH9, DNAAF1 (LRRC50), CCDC39, CCDC40, DNAL1, CCDC103, HEATR2, and LRRC6. Biallelic mutations in: DNAI1 account for approximately 2%-9% of all PCD; DNAH5 account for approximately 15%-21% of all PCD.--- PCD is inherited in an autosomal recessive manner. The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. KEGG pathway: Huntington's disease 34458750 34520987 + 9 DNAI1 Homo sapiens Annotation Release 105 9p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 79987 Homo sapiens human 611691 CCP22 SELOB SEL-OB C9orf13 POLYDOM sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 113127528 113342160 - 9 SVEP1 Homo sapiens Annotation Release 105 9q32 0 pathway-nonregistered-2016-03-17_02:31:49 9696 Homo sapiens human ROLT ciliary rootlet coiled-coil, rootletin 17248445 17299474 + 1 CROCC Homo sapiens Annotation Release 105 1p36.13 0 pathway-nonregistered-2016-03-17_02:31:49 29119 Homo sapiens human 607667 VR22 catenin (cadherin-associated protein), alpha 3 KEGG pathway: Adherens junction--- KEGG pathway: Tight junction--- KEGG pathway: Leukocyte transendothelial migration--- KEGG pathway: Hippo signaling pathway--- KEGG pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC)--- KEGG pathway: Bacterial invasion of epithelial cells--- KEGG pathway: Endometrial cancer--- KEGG pathway: Pathways in cancer 67672276 69455949 - 10 CTNNA3 Homo sapiens Annotation Release 105 10q22.2 0 pathway-nonregistered-2016-03-17_02:31:49 84059 Homo sapiens human 602851 FEB4 MASS1 USH2B USH2C VLGR1 VLGR1b This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008] G protein-coupled receptor 98 89854617 90460254 + 5 GPR98 Homo sapiens Annotation Release 105 5q13 0 pathway-nonregistered-2016-03-17_02:31:49 248 Homo sapiens human 171740 IAP There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq, Jul 2008] alkaline phosphatase, intestinal KEGG pathway: Metabolic pathways--- KEGG pathway: Folate biosynthesis 233320833 233325455 + 2 ALPI Homo sapiens Annotation Release 105 2q37.1 0 pathway-nonregistered-2016-03-17_02:31:49 580 Homo sapiens human 601593 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] BRCA1 associated RING domain 1 215590370 215674428 - 2 BARD1 Homo sapiens Annotation Release 105 2q34-q35 0 pathway-nonregistered-2016-03-17_02:31:49 10788 Homo sapiens human 605401 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] IQ motif containing GTPase activating protein 2 KEGG pathway: Regulation of actin cytoskeleton 75699131 76003957 + 5 IQGAP2 Homo sapiens Annotation Release 105 5q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 1601 Homo sapiens human 601236 DOC2 DOC-2 This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) KEGG pathway: Endocytosis--- Reactome Event:Membrane Trafficking 39371776 39425335 - 5 DAB2 Homo sapiens Annotation Release 105 5p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 6237 Homo sapiens human 165090 related RAS viral (r-ras) oncogene homolog KEGG pathway: Tight junction--- KEGG pathway: MAPK signaling pathway--- KEGG pathway: Regulation of actin cytoskeleton--- KEGG pathway: HTLV-I infection--- KEGG pathway: Proteoglycans in cancer--- KEGG pathway: Rap1 signaling pathway--- KEGG pathway: Ras signaling pathway--- Reactome Event:Neuronal System--- Reactome Event:Developmental Biology 50138552 50143400 - 19 RRAS Homo sapiens Annotation Release 105 19q13.33 0 pathway-nonregistered-2016-03-17_02:31:49 54867 Homo sapiens human transmembrane protein 214 27255774 27264565 + 2 TMEM214 Homo sapiens Annotation Release 105 2p23.3 0 pathway-nonregistered-2016-03-17_02:31:49 23348 Homo sapiens human 607325 ZIZ1 ZIZIMIN1 RP11-155N3.2 dedicator of cytokinesis 9 Reactome Event:Hemostasis 99445741 99738660 - 13 DOCK9 Homo sapiens Annotation Release 105 13q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 64863 Homo sapiens human HsT661 methyltransferase like 4 2537524 2571489 - 18 METTL4 Homo sapiens Annotation Release 105 18p11.32 0 pathway-nonregistered-2016-03-17_02:31:49 23150 Homo sapiens human GRSP1 6030440G05Rik FERM domain containing 4B 69219146 69435430 - 3 FRMD4B Homo sapiens Annotation Release 105 3p14.1 0 pathway-nonregistered-2016-03-17_02:31:49 140766 Homo sapiens human 607506 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008] ADAM metallopeptidase with thrombospondin type 1 motif, 14 Reactome Event:Extracellular matrix organization 72432559 72522197 + 10 ADAMTS14 Homo sapiens Annotation Release 105 10q21 0 pathway-nonregistered-2016-03-17_02:31:49 1603 Homo sapiens human 600243 OST2 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008] defender against cell death 1 KEGG pathway: Metabolic pathways--- KEGG pathway: Protein processing in endoplasmic reticulum--- KEGG pathway: N-Glycan biosynthesis--- Reactome Event:Signal Transduction--- Reactome Event:Metabolism of proteins 23033807 23058143 - 14 DAD1 Homo sapiens Annotation Release 105 14q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 55584 Homo sapiens human 605116 NACHRA9 HSA243342 This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] cholinergic receptor, nicotinic, alpha 9 (neuronal) KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Neuronal System 40337346 40357234 + 4 CHRNA9 Homo sapiens Annotation Release 105 4p14 0 pathway-nonregistered-2016-03-17_02:31:49 1136 Homo sapiens human 118503 LNCR2 PAOD2 NACHRA3 This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] cholinergic receptor, nicotinic, alpha 3 (neuronal) KEGG pathway: Cholinergic synapse--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Neuronal System 78885394 78913637 - 15 CHRNA3 Homo sapiens Annotation Release 105 15q24 0 pathway-nonregistered-2016-03-17_02:31:49 145173 Homo sapiens human 610308 B3GTL Gal-T B3GLCT B3Glc-T beta3Glc-T The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] beta 1,3-galactosyltransferase-like Peters plus syndrome is characterized by anterior chamber eye anomalies, disproportionate short stature, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. The most common anterior chamber defect is Peters' anomaly, consisting of a central corneal opacification, thinning of the posterior cornea, and iridocorneal adhesions, and ranging from mild to severe. Cataracts and glaucoma are common. Growth deficiency with rhizomelic limb shortening is invariably present. Developmental delay is observed in about 80% of children; although some adults have normal cognitive function, intellectual disability can range from mild to severe. Cleft lip is present in 45% and cleft palate in 33%.--- Diagnosis is based on clinical findings and molecular genetic testing of B3GALTL, the only gene in which mutations are known to cause Peters plus syndrome. Most affected individuals tested to date are homozygous for a hot spot splice mutation in intron 8 (c.660+1G>A).--- Peters plus syndrome is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and thus carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. There is an increased chance for miscarriages and second- and third-trimester fetal loss of homozygously affected fetuses. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. KEGG pathway: Other types of O-glycan biosynthesis 31774112 31906413 + 13 B3GALTL Homo sapiens Annotation Release 105 13q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 4846 Homo sapiens human 163729 eNOS ECNOS Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] nitric oxide synthase 3 (endothelial cell) Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., >/=2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age<65 years).--- Establishing the diagnosis of Alzheimer disease relies on clinical-neuropathologic assessment. Neuropathologic findings of beta-amyloid plaques and intraneuronal neurofibrillary tangles remain the gold standard for diagnosis. The clinical diagnosis of AD, based on signs of slowly progressive dementia and findings of gross cerebral cortical atrophy on neuroimaging, is correct approximately 80%-90% of the time. The association of the APOE e4 allele with AD is significant; however, APOE genotyping is neither fully specific nor sensitive. While APOE genotyping may have an adjunct role in the diagnosis of AD in symptomatic individuals, it appears to have little role at this time in predictive testing of asymptomatic individuals. Three forms of early-onset familial AD (EOFAD) caused by mutations in one of three genes (APP, PSEN1, PSEN2) are recognized.--- Because AD is genetically heterogeneous, genetic counseling of persons with AD and their family members must be tailored to the information available for that family. It should be pointed out that AD is common and that the overall lifetime risk for any individual of developing dementia is approximately 10%-12%. Genetic counseling for people with non-familial AD and their family members must be empiric and relatively nonspecific. First-degree relatives of a simplex case of AD (i.e., single occurrence in a family) have a cumulative lifetime risk of developing AD of approximately 15%-30%, which is typically reported as a 20%-25% risk. This risk is approximately 2.5 times that of the background risk (~27% vs 10.4%). In contrast, early-onset familial Alzheimer disease (EOFAD) is inherited in an autosomal dominant manner. KEGG pathway: Arginine and proline metabolism--- KEGG pathway: VEGF signaling pathway--- KEGG pathway: HIF-1 signaling pathway--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Metabolic pathways--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Estrogen signaling pathway--- Reactome Event:Metabolism--- Reactome Event:Hemostasis--- Reactome Event:Disease 150688144 150711687 + 7 NOS3 Homo sapiens Annotation Release 105 7q36 0 pathway-nonregistered-2016-03-17_02:31:49 3636 Homo sapiens human 600829 OPSMD SHIP2 The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009] inositol polyphosphate phosphatase-like 1 KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: B cell receptor signaling pathway--- KEGG pathway: Phosphatidylinositol signaling system--- KEGG pathway: Insulin signaling pathway--- KEGG pathway: Fc gamma R-mediated phagocytosis--- Reactome Event:Immune System--- Reactome Event:Metabolism 71934916 71950191 + 11 INPPL1 Homo sapiens Annotation Release 105 11q13 0 pathway-nonregistered-2016-03-17_02:31:49 4842 Homo sapiens human 163731 NOS bNOS nNOS IHPS1 N-NOS NC-NOS The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011] nitric oxide synthase 1 (neuronal) KEGG pathway: Metabolic pathways--- KEGG pathway: Arginine and proline metabolism--- KEGG pathway: Amyotrophic lateral sclerosis (ALS)--- KEGG pathway: Circadian entrainment--- KEGG pathway: Alzheimer's disease--- KEGG pathway: Long-term depression--- KEGG pathway: Salivary secretion--- KEGG pathway: Phagosome--- KEGG pathway: Calcium signaling pathway--- Reactome Event:Hemostasis--- Reactome Event:Disease 117645921 117799607 - 12 NOS1 Homo sapiens Annotation Release 105 12q24.22 0 pathway-nonregistered-2016-03-17_02:31:49 23170 Homo sapiens human dJ526I14.2 tubulin tyrosine ligase-like family, member 12 43562628 43583137 - 22 TTLL12 Homo sapiens Annotation Release 105 22q13.31 0 pathway-nonregistered-2016-03-17_02:31:49 129684 Homo sapiens human 610519 caspr5 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] contactin associated protein-like 5 124782864 125672954 + 2 CNTNAP5 Homo sapiens Annotation Release 105 2q14.3 0 pathway-nonregistered-2016-03-17_02:31:49 285643 Homo sapiens human 609184 kinesin family member 4B Reactome Event:Immune System--- Reactome Event:Hemostasis--- Reactome Event:Developmental Biology 154393260 154397685 + 5 KIF4B Homo sapiens Annotation Release 105 5q33.1 0 pathway-nonregistered-2016-03-17_02:31:49 121551 Homo sapiens human ABTB2B BTB (POZ) domain containing 11 107712197 108053419 + 12 BTBD11 Homo sapiens Annotation Release 105 12q23.3 0 pathway-nonregistered-2016-03-17_02:31:49 1828 Homo sapiens human 125670 DG1 DSG CDHF4 EPKHE PPKS1 SPPK1 EPKHIA Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq, Jul 2008] desmoglein 1 KEGG pathway: Staphylococcus aureus infection--- Reactome Event:Apoptosis 28898052 28937394 + 18 DSG1 Homo sapiens Annotation Release 105 18q12.1 0 pathway-nonregistered-2016-03-17_02:31:49 84643 Homo sapiens human 615142 kinesin family member 2B Reactome Event:Cell Cycle--- Reactome Event:Hemostasis--- Reactome Event:Immune System 51900239 51902573 + 17 KIF2B Homo sapiens Annotation Release 105 17q22 0 pathway-nonregistered-2016-03-17_02:31:49 79846 Homo sapiens human chromosome 7 open reading frame 63 89874488 89940377 + 7 C7orf63 Homo sapiens Annotation Release 105 7q21.13 0 pathway-nonregistered-2016-03-17_02:31:49 165215 Homo sapiens human KIAA1946 family with sequence similarity 171, member B 187558789 187630686 + 2 FAM171B Homo sapiens Annotation Release 105 2q32.1 0 pathway-nonregistered-2016-03-17_02:31:49 51752 Homo sapiens human 606832 ALAP A-LAP ARTS1 ERAAP APPILS ARTS-1 ERAAP1 PILSAP PILS-AP The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] endoplasmic reticulum aminopeptidase 1 Reactome Event:Immune System 96096514 96149848 - 5 ERAP1 Homo sapiens Annotation Release 105 5q15 0 pathway-nonregistered-2016-03-17_02:31:49 64167 Homo sapiens human 609497 LRAP L-RAP Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase II (TPP2; MIM 190470) (Tanioka et al., 2003 [PubMed 12799365]).[supplied by OMIM, Mar 2008] endoplasmic reticulum aminopeptidase 2 96211644 96255420 + 5 ERAP2 Homo sapiens Annotation Release 105 5q15 0 pathway-nonregistered-2016-03-17_02:31:49 9855 Homo sapiens human FIR FRG PLEKHC3 FERM, RhoGEF and pleckstrin domain protein 2 KEGG pathway: Adherens junction--- KEGG pathway: Rap1 signaling pathway--- Reactome Event:Developmental Biology 242295664 242434256 + 2 FARP2 Homo sapiens Annotation Release 105 2q37.3 0 pathway-nonregistered-2016-03-17_02:31:49 283162 Homo sapiens human OR8B4P OR11-315 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] olfactory receptor, family 8, subfamily B, member 4 KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction 124293838 124294767 - 11 OR8B4 Homo sapiens Annotation Release 105 11q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 344148 Homo sapiens human 608789 NAP5 ERIH1 ERIH2 NCK-associated protein 5 133429361 134399118 - 2 NCKAP5 Homo sapiens Annotation Release 105 2q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 9612 Homo sapiens human 600848 SMRT TRAC CTG26 SMRTE TRAC1 N-CoR2 TNRC14 TRAC-1 SMAP270 SMRTE-tau This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] nuclear receptor corepressor 2 KEGG pathway: Notch signaling pathway--- KEGG pathway: Epstein-Barr virus infection--- Reactome Event:Developmental Biology--- Reactome Event:Gene Expression--- Reactome Event:Signal Transduction--- Reactome Event:Disease--- Reactome Event:Metabolism 124808957 125052079 - 12 NCOR2 Homo sapiens Annotation Release 105 12q24 0 pathway-nonregistered-2016-03-17_02:31:49 123041 Homo sapiens human 609840 NCKX4 SHEP6 SLC24A2 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Reactome Event:Transmembrane transport of small molecules 92788925 92967825 + 14 SLC24A4 Homo sapiens Annotation Release 105 14q32.12 0 pathway-nonregistered-2016-03-17_02:31:49 81027 Homo sapiens human 612901 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] tubulin, beta 1 class VI KEGG pathway: Phagosome--- KEGG pathway: Pathogenic Escherichia coli infection--- KEGG pathway: Gap junction--- Reactome Event:Metabolism of proteins 57594309 57601709 + 20 TUBB1 Homo sapiens Annotation Release 105 20q13.32 0 pathway-nonregistered-2016-03-17_02:31:49 56155 Homo sapiens human 605792 CT113 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] testis expressed 14 56634038 56769416 - 17 TEX14 Homo sapiens Annotation Release 105 17q22 0 pathway-nonregistered-2016-03-17_02:31:49 9585 Homo sapiens human 605498 CT90 MPP1 KRMP1 MPP-1 MPHOSPH1 kinesin family member 20B 91461264 91534700 + 10 KIF20B Homo sapiens Annotation Release 105 10q23.31 0 pathway-nonregistered-2016-03-17_02:31:49 2624 Homo sapiens human 137295 DCML NFE1B MONOMAC This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] GATA binding protein 2 Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.--- CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA.--- Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. If the disease-causing mutation has been identified in an affected family member, prenatal testing for at-risk pregnancies is possible through laboratories offering either prenatal testing for the gene of interest or custom testing. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common. Reactome Event:Hemostasis 128198265 128212030 - 3 GATA2 Homo sapiens Annotation Release 105 3q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 64478 Homo sapiens human 608397 PPP1R24 CUB and Sushi multiple domains 1 2792875 4852328 - 8 CSMD1 Homo sapiens Annotation Release 105 8p23.2 0 pathway-nonregistered-2016-03-17_02:31:49 55719 Homo sapiens human 610348 C10orf6 family with sequence similarity 178, member A 102672326 102724891 + 10 FAM178A Homo sapiens Annotation Release 105 10q24.31 0 pathway-nonregistered-2016-03-17_02:31:49 25914 Homo sapiens human 610436 This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013] rotatin 67671040 67872962 - 18 RTTN Homo sapiens Annotation Release 105 18q22.2 0 pathway-nonregistered-2016-03-17_02:31:49 153643 Homo sapiens human family with sequence similarity 81, member B 94727048 94786145 + 5 FAM81B Homo sapiens Annotation Release 105 5q15 0 pathway-nonregistered-2016-03-17_02:31:49 57507 Homo sapiens human NY-REN-36 zinc finger protein 608 123972606 124084517 - 5 ZNF608 Homo sapiens Annotation Release 105 5q23.2 0 pathway-nonregistered-2016-03-17_02:31:49 283375 Homo sapiens human 608730 ZIP5 LZT-Hs7 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A5 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] solute carrier family 39 (zinc transporter), member 5 Reactome Event:Transmembrane transport of small molecules 56623820 56631630 + 12 SLC39A5 Homo sapiens Annotation Release 105 12q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 23112 Homo sapiens human 610740 trinucleotide repeat containing 6B Reactome Event:Cellular responses to stress--- Reactome Event:Disease--- Reactome Event:Gene Expression--- Reactome Event:Immune System--- Reactome Event:Signal Transduction 40440046 40731812 + 22 TNRC6B Homo sapiens Annotation Release 105 22q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 136332 Homo sapiens human leucine-rich repeats and guanylate kinase domain containing 133812105 133948933 + 7 LRGUK Homo sapiens Annotation Release 105 7q33 0 pathway-nonregistered-2016-03-17_02:31:49 202333 Homo sapiens human 612193 SPRYD2 TRIM76 C5orf10 cardiomyopathy associated 5 78985659 79096049 + 5 CMYA5 Homo sapiens Annotation Release 105 5q14.1 0 pathway-nonregistered-2016-03-17_02:31:49 287 Homo sapiens human 106410 LQT4 ANK-2 brank-2 This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] ankyrin 2, neuronal KEGG pathway: Proteoglycans in cancer 113739239 114304896 + 4 ANK2 Homo sapiens Annotation Release 105 4q25-q27 0 pathway-nonregistered-2016-03-17_02:31:49 288 Homo sapiens human 600465 MRT37 ANKYRIN-G Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] ankyrin 3, node of Ranvier (ankyrin G) KEGG pathway: Proteoglycans in cancer--- Reactome Event:Developmental Biology 61786056 62493284 - 10 ANK3 Homo sapiens Annotation Release 105 10q21 0 pathway-nonregistered-2016-03-17_02:31:49 55107 Homo sapiens human 610108 DOG1 TAOS2 ORAOV2 TMEM16A anoctamin 1, calcium activated chloride channel 69924408 70035651 + 11 ANO1 Homo sapiens Annotation Release 105 11q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 4720 Homo sapiens human 602985 CI-49 The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) KEGG pathway: Oxidative phosphorylation--- KEGG pathway: Non-alcoholic fatty liver disease (NAFLD)--- KEGG pathway: Alzheimer's disease--- KEGG pathway: Metabolic pathways--- KEGG pathway: Parkinson's disease--- KEGG pathway: Huntington's disease--- Reactome Event:Metabolism 161167209 161184185 + 1 NDUFS2 Homo sapiens Annotation Release 105 1q23 0 pathway-nonregistered-2016-03-17_02:31:49 1285 Homo sapiens human 120070 Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] collagen, type IV, alpha 3 (Goodpasture antigen) Alport syndrome (AS) is characterized by renal, cochlear, and ocular involvement. Renal disease progresses from microscopic hematuria to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with X-linked (XL) AS, and in all males and females with autosomal recessive (AR) AS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. Thin basement membrane nephropathy (TBMN) is characterized by persistent microscopic hematuria often first observed in childhood; progressive renal involvement and extrarenal abnormalities are rare.--- The diagnosis of Alport syndrome and thin basement membrane nephropathy rests on: History and physical examination, which may include audiologic and ophthalmic evaluation; Detailed family history and possibly urinalyses on first- and second-degree relatives; Immunohistochemical analysis of basement membrane type IV collagen expression, using skin and/or renal biopsy specimens; and Examination of renal biopsy specimens by electron microscopy. With these tools, the diagnosis can be confirmed in most cases. AS and TBMN are caused by mutation of the type IV collagen genes COL4A3, COL4A4, and COL4A5.--- Three modes of inheritance are recognized for Alport syndrome and TBMN: X-linked, autosomal recessive, and autosomal dominant. In families with X-linked inheritance, carrier mothers have a 50% chance of transmitting the disease-causing mutation in each pregnancy; sons who inherit the mutation will be affected with Alport syndrome and will eventually develop ESRD and, in most cases, deafness; daughters who inherit the mutation will be carriers and will typically have asymptomatic hematuria but may have more severe renal disease. Affected males will pass the disease-causing mutation to all of their daughters and to none of their sons. In families with autosomal recessive inheritance, the parents of an affected child are obligate heterozygotes and carry one mutant allele; at conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier who may or may not be symptomatic, and a 25% chance of being unaffected and not a carrier. In families with autosomal dominant inheritance, each child of an affected individual has a 50% chance of inheriting the mutation and having a collagen IV disorder (ADAS or TBMN). Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation(s) in the family are known. KEGG pathway: Focal adhesion--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Pathways in cancer--- KEGG pathway: Small cell lung cancer--- KEGG pathway: Protein digestion and absorption--- KEGG pathway: Amoebiasis--- Reactome Event:Extracellular matrix organization--- Reactome Event:Signal Transduction--- Reactome Event:Developmental Biology 228029281 228179508 + 2 COL4A3 Homo sapiens Annotation Release 105 2q36-q37 0 pathway-nonregistered-2016-03-17_02:31:49 1369 Homo sapiens human 603103 CPN SCPN Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008] carboxypeptidase N, polypeptide 1 Reactome Event:Metabolism of proteins 101802065 101841642 - 10 CPN1 Homo sapiens Annotation Release 105 10q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 3257 Homo sapiens human 604982 HPS This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis or granulomatous colitis. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals.--- The diagnosis of HPS is established by clinical findings of hypopigmentation of the skin and hair, characteristic eye findings, and demonstration of absent dense bodies on whole mount electron microscopy of platelets. Mutations in HPS1, AP3B1 (HPS2), HPS3, HPS4, HPS5, HPS6, DTNBP1 (HPS7), BLOC1S3 (HPS8), and BLOC1S6 (PLDN) are known to cause HPS.--- HPS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible for those families in which the disease-causing mutations have been identified. 100175955 100206720 - 10 HPS1 Homo sapiens Annotation Release 105 10q23.1-q23.3 0 pathway-nonregistered-2016-03-17_02:31:49 56919 Homo sapiens human 614405 DDX33 This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] DEAH (Asp-Glu-Ala-His) box polypeptide 33 5344232 5372380 - 17 DHX33 Homo sapiens Annotation Release 105 17p13.2 0 pathway-nonregistered-2016-03-17_02:31:49 8701 Homo sapiens human 603339 CILD7 DNHBL DPL11 DNAHBL DNAHC11 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] dynein, axonemal, heavy chain 11 21582833 21941451 + 7 DNAH11 Homo sapiens Annotation Release 105 7p21 0 pathway-nonregistered-2016-03-17_02:31:49 91351 Homo sapiens human DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 169277886 169401665 - 4 DDX60L Homo sapiens Annotation Release 105 4q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 2986 Homo sapiens human 300041 CYGF GC-F GUC2F GUC2DL RETGC-2 ROS-GC2 The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008] guanylate cyclase 2F, retinal KEGG pathway: Purine metabolism--- KEGG pathway: Phototransduction--- Reactome Event:Disease--- Reactome Event:Signal Transduction 108616135 108725285 - X GUCY2F Homo sapiens Annotation Release 105 Xq22 0 pathway-nonregistered-2016-03-17_02:31:49 414301 Homo sapiens human DNA-damage inducible 1 homolog 1 (S. cerevisiae) 103907308 103909922 + 11 DDI1 Homo sapiens Annotation Release 105 11q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 5288 Homo sapiens human 609001 PI3K-C2GAMMA The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The biological function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma KEGG pathway: Metabolic pathways--- KEGG pathway: Phosphatidylinositol signaling system--- KEGG pathway: Inositol phosphate metabolism--- Reactome Event:Metabolism 18395912 18801352 + 12 PIK3C2G Homo sapiens Annotation Release 105 12p12 0 pathway-nonregistered-2016-03-17_02:31:49 154664 Homo sapiens human 607807 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] ATP-binding cassette, sub-family A (ABC1), member 13 KEGG pathway: ABC transporters 48211057 48687091 + 7 ABCA13 Homo sapiens Annotation Release 105 7p12.3 0 pathway-nonregistered-2016-03-17_02:31:49 26154 Homo sapiens human 607800 LI2 ICR2B ARCI4A ARCI4B The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] ATP-binding cassette, sub-family A (ABC1), member 12 Although most neonates with autosomal recessive congenital ichthyosis (ARCI) are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). Although these phenotypes are now recognized to fall on a continuum, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe lamellar ichthyosis (LI) with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma.--- The diagnosis of ARCI is established by skin findings at birth and in infancy. Skin biopsy is not necessary to establish the diagnosis of ARCI. The seven genes known to be associated with ARCI are TGM1, ALOXE3, ALOX12B, NIPAL4 (formerly known as ICHTHYIN), ABCA12, CYP4F22, and PNPLA1; at least one gene remains unknown. Mutations in TGM1 account for 34%-55% of all ARCI and 90% or more of severe LI. Mutations in the two ALOX genes are present in an estimated 17% of individuals with ARCI, typically associated with CIE or intermediate LI/CIE phenotypes; mutations in NIPAL4 and CYP4F22 have been reported in up to 12% and 8%, respectively, of individuals with ARCI. The vast majority of individuals with harlequin ichthyosis and a few individuals with LI have mutations in ABCA12, including partial-gene deletions. ABCA12 mutations account for about 5% of ARCI. Least common appear to be mutations in PNPLA1, so far only reported in two consanguineous families from the Middle East.--- ARCI is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% risk of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if both disease-causing mutations have been identified in a family. KEGG pathway: ABC transporters--- Reactome Event:Transmembrane transport of small molecules 215796266 216003151 - 2 ABCA12 Homo sapiens Annotation Release 105 2q34 0 pathway-nonregistered-2016-03-17_02:31:49 4035 Homo sapiens human 107770 APR LRP A2MR CD91 APOER LRP1A TGFBR5 IGFBP3R The protein encoded by this gene is an endocytic receptor involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the A2M-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer patients. [provided by RefSeq, Jan 2010] low density lipoprotein receptor-related protein 1 KEGG pathway: Malaria--- KEGG pathway: Alzheimer's disease--- Reactome Event:Signal Transduction--- Reactome Event:Binding and Uptake of Ligands by Scavenger Receptors--- Reactome Event:Disease 57522282 57607142 + 12 LRP1 Homo sapiens Annotation Release 105 12q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 4036 Homo sapiens human 600073 DBS GP330 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] low density lipoprotein receptor-related protein 2 KEGG pathway: Thyroid hormone synthesis--- KEGG pathway: Hedgehog signaling pathway--- Reactome Event:Disease--- Reactome Event:Signal Transduction--- Reactome Event:Metabolism 169983619 170219123 - 2 LRP2 Homo sapiens Annotation Release 105 2q31.1 0 pathway-nonregistered-2016-03-17_02:31:49 4038 Homo sapiens human 604270 CLSS LRP-4 LRP10 MEGF7 SOST2 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] low density lipoprotein receptor-related protein 4 46878268 46940173 - 11 LRP4 Homo sapiens Annotation Release 105 11p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 987 Homo sapiens human 606453 BGL LBA CDC4L CVID8 LAB300 The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] LPS-responsive vesicle trafficking, beach and anchor containing 151185811 151936879 - 4 LRBA Homo sapiens Annotation Release 105 4q31.3 0 pathway-nonregistered-2016-03-17_02:31:49 57705 Homo sapiens human 613316 C10orf64 WDFY family member 4 49892907 50191001 + 10 WDFY4 Homo sapiens Annotation Release 105 10q11.23 0 pathway-nonregistered-2016-03-17_02:31:49 219770 Homo sapiens human 611922 CX40.1 RP11-425A6.2 Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] gap junction protein, delta 4, 40.1kDa Reactome Event:Membrane Trafficking 35894338 35897863 + 10 GJD4 Homo sapiens Annotation Release 105 10p11.21 0 pathway-nonregistered-2016-03-17_02:31:49 8218 Homo sapiens human 601273 CLTD CHC22 CLH22 CLTCL This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] clathrin, heavy chain-like 1 KEGG pathway: Lysosome--- KEGG pathway: Bacterial invasion of epithelial cells--- KEGG pathway: Endocytosis--- KEGG pathway: Synaptic vesicle cycle--- KEGG pathway: Endocrine and other factor-regulated calcium reabsorption--- KEGG pathway: Huntington's disease--- Reactome Event:Membrane Trafficking 19166986 19279247 - 22 CLTCL1 Homo sapiens Annotation Release 105 22q11.21 0 pathway-nonregistered-2016-03-17_02:31:49 902 Homo sapiens human 601953 CAK p34 p37 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010] cyclin H KEGG pathway: Nucleotide excision repair--- KEGG pathway: Cell cycle--- KEGG pathway: Basal transcription factors--- Reactome Event:DNA Repair--- Reactome Event:Gene Expression--- Reactome Event:Disease--- Reactome Event:Cell Cycle 86687310 86708850 - 5 CCNH Homo sapiens Annotation Release 105 5q13.3-q14 0 pathway-nonregistered-2016-03-17_02:31:49 178 Homo sapiens human 610860 GDE This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase KEGG pathway: Starch and sucrose metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 100315633 100389579 + 1 AGL Homo sapiens Annotation Release 105 1p21 0 pathway-nonregistered-2016-03-17_02:31:49 55781 Homo sapiens human RIO2 RIO kinase 2 KEGG pathway: Ribosome biogenesis in eukaryotes 96496571 96519005 - 5 RIOK2 Homo sapiens Annotation Release 105 5q15 0 pathway-nonregistered-2016-03-17_02:31:49 672 Homo sapiens human 113705 IRIS PSCP BRCAI BRCC1 PNCA4 RNF53 BROVCA1 PPP1R53 This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] breast cancer 1, early onset The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA1 that are pathogenic or expected to be pathogenic. KEGG pathway: Ubiquitin mediated proteolysis--- KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Fanconi anemia pathway--- KEGG pathway: PI3K-Akt signaling pathway--- Reactome Event:Meiosis--- Reactome Event:DNA Repair--- Reactome Event:Cell Cycle 41196312 41277500 - 17 BRCA1 Homo sapiens Annotation Release 105 17q21 0 pathway-nonregistered-2016-03-17_02:31:49 23511 Homo sapiens human hNup188 KIAA0169 The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013] nucleoporin 188kDa KEGG pathway: RNA transport--- Reactome Event:Disease--- Reactome Event:Cell Cycle--- Reactome Event:Immune System--- Reactome Event:Transmembrane transport of small molecules--- Reactome Event:Metabolism 131709972 131769375 + 9 NUP188 Homo sapiens Annotation Release 105 9q34.11 0 pathway-nonregistered-2016-03-17_02:31:49 340152 Homo sapiens human 611106 TFL p34 MCPIP4 C6orf95 dJ281H8.1 zinc finger CCCH-type containing 12D 149768766 149806148 - 6 ZC3H12D Homo sapiens Annotation Release 105 6q25.1 0 pathway-nonregistered-2016-03-17_02:31:49 5462 Homo sapiens human OTF3C OTF3P1 OCT4-PG1 POU5F1P1 POU5F1P4 POU5FLC8 POU5FLC20 This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009] POU class 5 homeobox 1B 128427131 128429455 + 8 POU5F1B Homo sapiens Annotation Release 105 8q24.21 0 pathway-nonregistered-2016-03-17_02:31:49 1565 Homo sapiens human 124030 CPD6 CYP2D CYP2DL1 CYPIID6 P450C2D P450DB1 CYP2D7AP CYP2D7BP CYP2D7P2 CYP2D8P2 P450-DB1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] cytochrome P450, family 2, subfamily D, polypeptide 6 KEGG pathway: Serotonergic synapse--- KEGG pathway: Drug metabolism - cytochrome P450--- KEGG pathway: Metabolism of xenobiotics by cytochrome P450--- Reactome Event:Metabolism 42522501 42526883 - 22 CYP2D6 Homo sapiens Annotation Release 105 22q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 92211 Homo sapiens human 609502 RP65 PRCAD CORD15 PCDH21 This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013] cadherin-related family member 1 85954391 85979377 + 10 CDHR1 Homo sapiens Annotation Release 105 10q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 56914 Homo sapiens human 606067 FDP MIAL1 This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013] otoraplin 16728998 16732809 + 20 OTOR Homo sapiens Annotation Release 105 20p12.1-p11.23 0 pathway-nonregistered-2016-03-17_02:31:49 339976 Homo sapiens human RNF209 tripartite motif family-like 1 189060598 189068649 + 4 TRIML1 Homo sapiens Annotation Release 105 4q35.2 0 pathway-nonregistered-2016-03-17_02:31:49 7399 Homo sapiens human 608400 US2 RP39 USH2 dJ1111A8.1 This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Usher syndrome 2A (autosomal recessive, mild) 215796236 216596738 - 1 USH2A Homo sapiens Annotation Release 105 1q41 0 pathway-nonregistered-2016-03-17_02:31:49 2317 Homo sapiens human 603381 AOI FH1 SCT TAP LRS1 TABP FLN-B FLN1L ABP-278 ABP-280 This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009] filamin B, beta No evidence available (Last evaluated (2013-07-25)--- No evidence available (Last evaluated (2013-07-25) KEGG pathway: Proteoglycans in cancer--- KEGG pathway: Focal adhesion--- KEGG pathway: MAPK signaling pathway--- KEGG pathway: Salmonella infection--- Reactome Event:Immune System 57994127 58157982 + 3 FLNB Homo sapiens Annotation Release 105 3p14.3 0 pathway-nonregistered-2016-03-17_02:31:49 131873 Homo sapiens human collagen, type VI, alpha 6 KEGG pathway: Focal adhesion--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Protein digestion and absorption--- KEGG pathway: PI3K-Akt signaling pathway 130236198 130395890 + 3 COL6A6 Homo sapiens Annotation Release 105 3q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 85416 Homo sapiens human This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] Zic family member 5 100615275 100624178 - 13 ZIC5 Homo sapiens Annotation Release 105 13q32.3 0 pathway-nonregistered-2016-03-17_02:31:49 132430 Homo sapiens human poly(A) binding protein, cytoplasmic 4-like KEGG pathway: RNA degradation--- KEGG pathway: RNA transport--- KEGG pathway: mRNA surveillance pathway 135117488 135122903 - 4 PABPC4L Homo sapiens Annotation Release 105 4q28.3 0 pathway-nonregistered-2016-03-17_02:31:49 1000 Homo sapiens human 114020 CDHN NCAD CD325 CDw325 This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. [provided by RefSeq, Jul 2008] cadherin 2, type 1, N-cadherin (neuronal) KEGG pathway: Cell adhesion molecules (CAMs)--- KEGG pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC)--- Reactome Event:Developmental Biology--- Reactome Event:Cell-Cell communication 25530930 25757445 - 18 CDH2 Homo sapiens Annotation Release 105 18q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 7082 Homo sapiens human 601009 ZO-1 This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] tight junction protein 1 KEGG pathway: Tight junction--- KEGG pathway: Gap junction--- KEGG pathway: Salmonella infection--- KEGG pathway: Epithelial cell signaling in Helicobacter pylori infection--- KEGG pathway: Adherens junction--- KEGG pathway: Vibrio cholerae infection--- Reactome Event:Apoptosis--- Reactome Event:Signal Transduction--- Reactome Event:Membrane Trafficking 29992338 30261038 - 15 TJP1 Homo sapiens Annotation Release 105 15q13 0 pathway-nonregistered-2016-03-17_02:31:49 50937 Homo sapiens human 608707 CDO CDON1 HPE11 ORCAM This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] cell adhesion associated, oncogene regulated Reactome Event:Developmental Biology 125826713 125933187 - 11 CDON Homo sapiens Annotation Release 105 11q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 5314 Homo sapiens human 606702 FCYT ARPKD TIGM1 The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] polycystic kidney and hepatic disease 1 (autosomal recessive) 51480145 51952423 - 6 PKHD1 Homo sapiens Annotation Release 105 6p12.2 0 pathway-nonregistered-2016-03-17_02:31:49 6683 Homo sapiens human 604277 FSP2 SPG4 ADPSP This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] spastin Spastic paraplegia 4 (SPG4; also known as SPAST-associated HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. About one third have sphincter disturbances. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable.--- The diagnosis of SPAST-associated HSP in a proband is based on characteristic clinical symptoms and molecular genetic testing of SPAST, the gene in which mutations are known to cause spastic paraplegia associated with the SPG4 locus. Molecular genetic testing has a mutation detection rate of 80%-100%, depending on the test method.--- SPAST-associated HSP is inherited in an autosomal dominant manner with reduced penetrance. Most individuals diagnosed with SPAST-associated HSP have an affected parent. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with SPAST-associated HSP has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is technically possible though rarely requested. Because of incomplete penetrance and variable expression, results of prenatal testing cannot predict whether or not an individual will develop SPG4 and, if so, what the age of onset, clinical course, and degree of disability will be. 32288660 32382706 + 2 SPAST Homo sapiens Annotation Release 105 2p24-p21 0 pathway-nonregistered-2016-03-17_02:31:49 23138 Homo sapiens human LZTS4 NEDD4 binding protein 3 177540556 177553107 + 5 N4BP3 Homo sapiens Annotation Release 105 5q35.3 0 pathway-nonregistered-2016-03-17_02:31:49 64072 Homo sapiens human 605516 USH1D CDHR23 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] cadherin-related 23 73156691 73575704 + 10 CDH23 Homo sapiens Annotation Release 105 10q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 6261 Homo sapiens human 180901 CCO MHS RYR MHS1 RYDR SKRR RYR-1 This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] ryanodine receptor 1 (skeletal) The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR1 that are pathogenic or expected to be pathogenic. KEGG pathway: Circadian entrainment--- KEGG pathway: Long-term depression--- KEGG pathway: Calcium signaling pathway--- Reactome Event:Transmembrane transport of small molecules 38924340 39078204 + 19 RYR1 Homo sapiens Annotation Release 105 19q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 6262 Homo sapiens human 180902 RyR ARVC2 ARVD2 RYR-2 VTSIP This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] ryanodine receptor 2 (cardiac) The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR2 that are pathogenic or expected to be pathogenic. KEGG pathway: Circadian entrainment--- KEGG pathway: Insulin secretion--- KEGG pathway: Cardiac muscle contraction--- KEGG pathway: Hypertrophic cardiomyopathy (HCM)--- KEGG pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC)--- KEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Pancreatic secretion--- KEGG pathway: Adrenergic signaling in cardiomyocytes--- KEGG pathway: Calcium signaling pathway--- Reactome Event:Transmembrane transport of small molecules 237205510 237997288 + 1 RYR2 Homo sapiens Annotation Release 105 1q43 0 pathway-nonregistered-2016-03-17_02:31:49 23363 Homo sapiens human 610991 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] obscurin-like 1 3-M syndrome is characterized by severe pre- and postnatal growth retardation (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of 3-M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with 3-M syndrome have hypogonadism and, occasionally, hypospadias.--- The diagnosis of 3-M syndrome is suggested in children with all of the following: Low birth weight . Severe growth retardation. Characteristic facies (relatively large head, triangular face, hypoplastic midface, full eyebrows, fleshy nose tip, long philtrum, prominent mouth and lips, pointed chin) . Characteristic radiologic findings (slender long bones with diaphyseal constriction and flared metaphyses, tall vertebral bodies that become foreshortened over time, anterior wedging of thoracic vertebral bodies, irregular upper and lower endplates, thoracic kyphoscoliosis, spina bifida occulta, small pelvic bones, small iliac wings, broad thorax with slender and horizontal ribs, and slightly delayed bone age). Mutations in one of three genes are now known to cause 3-M syndrome: CUL7, OBSL1, and CCDC8.--- 3-M syndrome is inherited in an autosomal recessive manner. Each sib of a proband with 3-M syndrome has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible for families in which the disease-causing mutations have been identified in an affected family member. Prenatal ultrasound examination reveals slowing of growth of all long bones. 220415450 220436357 - 2 OBSL1 Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 8050 Homo sapiens human 608769 E3BP OPDX PDX1 proX DLDBP The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] pyruvate dehydrogenase complex, component X KEGG pathway: Citrate cycle (TCA cycle)--- KEGG pathway: Metabolic pathways--- KEGG pathway: Pyruvate metabolism--- KEGG pathway: Glycolysis / Gluconeogenesis--- Reactome Event:Metabolism 34937677 35017675 + 11 PDHX Homo sapiens Annotation Release 105 11p13 0 pathway-nonregistered-2016-03-17_02:31:49 1012 Homo sapiens human 601364 CDHH P105 This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] cadherin 13 Reactome Event:Cell-Cell communication 82660399 83830215 + 16 CDH13 Homo sapiens Annotation Release 105 16q23.3 0 pathway-nonregistered-2016-03-17_02:31:49 84957 Homo sapiens human 611211 TRLT TNFRSF19L The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008] RELT tumor necrosis factor receptor KEGG pathway: Cytokine-cytokine receptor interaction 73087405 73108519 + 11 RELT Homo sapiens Annotation Release 105 11q13.4 0 pathway-nonregistered-2016-03-17_02:31:49 53942 Homo sapiens human 607219 NB-2 HNB-2s The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] contactin 5 98891706 100229616 + 11 CNTN5 Homo sapiens Annotation Release 105 11q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 5101 Homo sapiens human 603581 This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012] protocadherin 9 No evidence available (Last evaluated (2012-06-08)--- No evidence available (Last evaluated (2012-06-08) 66876966 67804468 - 13 PCDH9 Homo sapiens Annotation Release 105 13q21.32 0 pathway-nonregistered-2016-03-17_02:31:49 10085 Homo sapiens human 606018 DEL1 The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] EGF-like repeats and discoidin I-like domains 3 83236414 83680685 - 5 EDIL3 Homo sapiens Annotation Release 105 5q14 0 pathway-nonregistered-2016-03-17_02:31:49 338645 Homo sapiens human 608178 PRO6246 KFSP2566 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] leucine zipper protein 2 24518516 25104186 + 11 LUZP2 Homo sapiens Annotation Release 105 11p14.3 0 pathway-nonregistered-2016-03-17_02:31:49 79659 Homo sapiens human 603297 ATD3 DHC2 DHC1b DNCH2 DYH1B SRPS2B hdhc11 This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] dynein, cytoplasmic 2, heavy chain 1 KEGG pathway: Phagosome--- KEGG pathway: Vasopressin-regulated water reabsorption--- KEGG pathway: Salmonella infection--- Reactome Event:Immune System 102980160 103350591 + 11 DYNC2H1 Homo sapiens Annotation Release 105 11q21-q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 2175 Homo sapiens human 607139 FA FA1 FAA FAH FA-H FACA FANCH The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] Fanconi anemia, complementation group A Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%.--- The diagnosis of FA rests upon the detection of chromosomal aberrations (breaks, rearrangements, radials, exchanges) in cells after culture with a DNA interstrand cross-linking agent such as diepoxybutane (DEB) or mitomycin C (MMC). Molecular genetic testing is complicated by the presence of at least 15 genes, which are responsible for the known FA complementation groups (A, B, C, D1 [BRCA2], D2, E, F, G, I, J [BRIP1], L, M, N [PALB2], O [RAD51C], and P [SLX4]). The latter two genes are still thought of as tentative as they do not fall within a very easily characterized compartment biologically and have very few representative individuals. If the relevant complementation group is identified, molecular genetic testing can be directed to the appropriate gene.--- Abnormalities of Fanconi anemia (FA) genes are inherited in an autosomal recessive manner except for mutations in FANCB, which are inherited in an X-linked manner. Autosomal recessive FA: Each sibling of an affected individual has a 25% chance of inheriting both mutations and being affected, a 50% chance of inheriting one mutated gene and being a carrier, and a 25% chance of inheriting both normal genes and not being a carrier. Carriers (heterozygotes) for autosomal recessive FA are asymptomatic. X-linked FA: For carrier females the chance of transmitting the mutation in each pregnancy is 50%; males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will usually not be affected. For both autosomal recessive and X-linked FA: Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. KEGG pathway: Fanconi anemia pathway--- Reactome Event:DNA Repair 89803959 89883066 - 16 FANCA Homo sapiens Annotation Release 105 16q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 80309 Homo sapiens human 611646 SKIP SPHK1 interactor, AKAP domain containing 228844670 229046836 - 2 SPHKAP Homo sapiens Annotation Release 105 2q36 0 pathway-nonregistered-2016-03-17_02:31:49 6840 Homo sapiens human 604126 This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Jul 2008] supervillin 29746274 30025864 - 10 SVIL Homo sapiens Annotation Release 105 10p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 822 Homo sapiens human 153615 MCP AFCP This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] capping protein (actin filament), gelsolin-like 85621871 85641197 - 2 CAPG Homo sapiens Annotation Release 105 2p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 54986 Homo sapiens human FAM7C1 REC01035 unc-51 like kinase 4 41288090 42056080 - 3 ULK4 Homo sapiens Annotation Release 105 3p22.1 0 pathway-nonregistered-2016-03-17_02:31:49 89932 Homo sapiens human papilin, proteoglycan-like sulfated glycoprotein 73704205 73741348 + 14 PAPLN Homo sapiens Annotation Release 105 14q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 90668 Homo sapiens human 614716 crml-1 CARMIL3 C14orf121 leucine rich repeat containing 16B 24521206 24538937 + 14 LRRC16B Homo sapiens Annotation Release 105 14q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 55133 Homo sapiens human S1 RNA binding domain 1 45615819 45838434 - 2 SRBD1 Homo sapiens Annotation Release 105 2p21 0 pathway-nonregistered-2016-03-17_02:31:49 5116 Homo sapiens human 605925 KEN PCN MOPD2 PCNT2 PCNTB PCTN2 SCKL4 The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. [provided by RefSeq, Jul 2008] pericentrin Reactome Event:Cell Cycle 47743976 47865682 + 21 PCNT Homo sapiens Annotation Release 105 21q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 50940 Homo sapiens human 604961 PPNAD2 The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] phosphodiesterase 11A KEGG pathway: Purine metabolism--- KEGG pathway: Morphine addiction--- Reactome Event:Hemostasis--- Reactome Event:Signal Transduction 178487977 178973066 - 2 PDE11A Homo sapiens Annotation Release 105 2q31.2 0 pathway-nonregistered-2016-03-17_02:31:49 4926 Homo sapiens human 164009 NUMA This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] nuclear mitotic apparatus protein 1 Reactome Event:Cell Cycle 71713910 71791732 - 11 NUMA1 Homo sapiens Annotation Release 105 11q13 0 pathway-nonregistered-2016-03-17_02:31:49 8735 Homo sapiens human 603487 MyHC-eo MyHC-IIL myosin, heavy chain 13, skeletal muscle KEGG pathway: Tight junction--- Reactome Event:Membrane Trafficking 10201401 10276322 - 17 MYH13 Homo sapiens Annotation Release 105 17p13 0 pathway-nonregistered-2016-03-17_02:31:49 54456 Homo sapiens human 605794 CHAMP DJ402G11.8 This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 50528435 50600119 + 22 MOV10L1 Homo sapiens Annotation Release 105 22q13.33 0 pathway-nonregistered-2016-03-17_02:31:49 89797 Homo sapiens human 607026 HELAD1 RAINB1 POMFIL2 UNC53H2 STEERIN2 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] neuron navigator 2 19372271 20143147 + 11 NAV2 Homo sapiens Annotation Release 105 11p15.1 0 pathway-nonregistered-2016-03-17_02:31:49 114134 Homo sapiens human 611036 HMIT solute carrier family 2 (facilitated glucose transporter), member 13 Reactome Event:Transmembrane transport of small molecules 40148823 40499847 - 12 SLC2A13 Homo sapiens Annotation Release 105 12q12 0 pathway-nonregistered-2016-03-17_02:31:49 1118 Homo sapiens human 600031 CHI3 CHIT CHITD Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012] chitinase 1 (chitotriosidase) KEGG pathway: Amino sugar and nucleotide sugar metabolism 203185207 203198860 - 1 CHIT1 Homo sapiens Annotation Release 105 1q32.1 0 pathway-nonregistered-2016-03-17_02:31:49 27132 Homo sapiens human 605689 This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] copine VII 89642176 89663654 + 16 CPNE7 Homo sapiens Annotation Release 105 16q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 23389 Homo sapiens human 608771 THRAP2 TRAP240L PROSIT240 The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010] mediator complex subunit 13-like Reactome Event:Developmental Biology 116396381 116714991 - 12 MED13L Homo sapiens Annotation Release 105 12q24.21 0 pathway-nonregistered-2016-03-17_02:31:49 8904 Homo sapiens human 604205 CPN1 COPN1 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008] copine I 34213953 34252878 - 20 CPNE1 Homo sapiens Annotation Release 105 20q11.22 0 pathway-nonregistered-2016-03-17_02:31:49 11197 Homo sapiens human 605186 WIF-1 The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] WNT inhibitory factor 1 KEGG pathway: Wnt signaling pathway 65444404 65515346 - 12 WIF1 Homo sapiens Annotation Release 105 12q14.3 0 pathway-nonregistered-2016-03-17_02:31:49 9379 Homo sapiens human 600566 This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010] neurexin 2 KEGG pathway: Cell adhesion molecules (CAMs) 64373646 64490660 - 11 NRXN2 Homo sapiens Annotation Release 105 11q13 0 pathway-nonregistered-2016-03-17_02:31:49 9378 Homo sapiens human 600565 PTHSL2 SCZD17 Hs.22998 Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008] neurexin 1 No evidence available (Last evaluated (2013-09-11)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-09-11) KEGG pathway: Cell adhesion molecules (CAMs)--- Reactome Event:Extracellular matrix organization 50145643 51259674 - 2 NRXN1 Homo sapiens Annotation Release 105 2p16.3 0 pathway-nonregistered-2016-03-17_02:31:49 25777 Homo sapiens human 613569 UNC84B SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010] Sad1 and UNC84 domain containing 2 Reactome Event:Cell Cycle--- Reactome Event:Meiosis 39130719 39162338 - 22 SUN2 Homo sapiens Annotation Release 105 22q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 1004 Homo sapiens human 603007 CAD6 KCAD This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011] cadherin 6, type 2, K-cadherin (fetal kidney) Reactome Event:Cell-Cell communication 31193762 31329253 + 5 CDH6 Homo sapiens Annotation Release 105 5p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 1005 Homo sapiens human 605806 CDH7L1 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. [provided by RefSeq, Jul 2008] cadherin 7, type 2 Reactome Event:Cell-Cell communication 63417488 63548175 + 18 CDH7 Homo sapiens Annotation Release 105 18q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 1007 Homo sapiens human 609974 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008] cadherin 9, type 2 (T1-cadherin) Reactome Event:Cell-Cell communication 26880709 27038689 - 5 CDH9 Homo sapiens Annotation Release 105 5p14 0 pathway-nonregistered-2016-03-17_02:31:49 1016 Homo sapiens human 603019 CDH14 CDH24 CDH14L This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] cadherin 18, type 2 Reactome Event:Cell-Cell communication 19473140 20575972 - 5 CDH18 Homo sapiens Annotation Release 105 5p14.3 0 pathway-nonregistered-2016-03-17_02:31:49 10526 Homo sapiens human 605600 RANBP8 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] importin 8 30781915 30848929 - 12 IPO8 Homo sapiens Annotation Release 105 12p11.21 0 pathway-nonregistered-2016-03-17_02:31:49 10693 Homo sapiens human 610730 Cctz2 CCTZ-2 TSA303 CCT-zeta-2 TCP-1-zeta-2 This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] chaperonin containing TCP1, subunit 6B (zeta 2) 33254878 33307968 - 17 CCT6B Homo sapiens Annotation Release 105 17q12 0 pathway-nonregistered-2016-03-17_02:31:49 10718 Homo sapiens human 605533 HRG3 pro-NRG3 This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] neuregulin 3 No evidence available (Last evaluated (2011-12-21)--- No evidence available (Last evaluated (2011-12-21) KEGG pathway: ErbB signaling pathway 83635070 84746935 + 10 NRG3 Homo sapiens Annotation Release 105 10q22-q23 0 pathway-nonregistered-2016-03-17_02:31:49 1075 Homo sapiens human 602365 JP HMS JPD PLS CPPI DPP1 DPPI PALS DPP-I PDON1 The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] cathepsin C KEGG pathway: Lysosome--- Reactome Event:Immune System 88026760 88070941 - 11 CTSC Homo sapiens Annotation Release 105 11q14.2 0 pathway-nonregistered-2016-03-17_02:31:49 10765 Homo sapiens human 605393 CT31 PLU1 PUT1 PLU-1 JARID1B RBBP2H1A lysine (K)-specific demethylase 5B 202696532 202777549 - 1 KDM5B Homo sapiens Annotation Release 105 1q32.1 0 pathway-nonregistered-2016-03-17_02:31:49 10992 Homo sapiens human 605591 Cus1 SF3b1 SAP145 SF3B145 SF3b150 This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008] splicing factor 3b, subunit 2, 145kDa KEGG pathway: Spliceosome--- Reactome Event:Gene Expression 65819264 65836382 + 11 SF3B2 Homo sapiens Annotation Release 105 11q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 11107 Homo sapiens human 614161 BCS2 PFM2 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008] PR domain containing 5 121613070 121844013 - 4 PRDM5 Homo sapiens Annotation Release 105 4q25-q26 0 pathway-nonregistered-2016-03-17_02:31:49 112483 Homo sapiens human 611463 SSAT2 spermidine/spermine N1-acetyltransferase family member 2 KEGG pathway: Arginine and proline metabolism--- KEGG pathway: Metabolic pathways 7529552 7531194 - 17 SAT2 Homo sapiens Annotation Release 105 17p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 11319 Homo sapiens human GCR2 HSGT1 ecdysoneless homolog (Drosophila) 74894282 74927853 - 10 ECD Homo sapiens Annotation Release 105 10q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 114788 Homo sapiens human 608399 CUB and Sushi multiple domains 3 113235157 114449242 - 8 CSMD3 Homo sapiens Annotation Release 105 8q23.3 0 pathway-nonregistered-2016-03-17_02:31:49 116835 Homo sapiens human 610702 C20orf60 dJ1009E24.2 The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] heat shock 70kD protein 12B 3713317 3733758 + 20 HSPA12B Homo sapiens Annotation Release 105 20p13 0 pathway-nonregistered-2016-03-17_02:31:49 119710 Homo sapiens human HEPIS This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] chromosome 11 open reading frame 74 36616043 36680841 + 11 C11orf74 Homo sapiens Annotation Release 105 11p12 0 pathway-nonregistered-2016-03-17_02:31:49 124872 Homo sapiens human 111730 B4GALT GALGT2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] beta-1,4-N-acetyl-galactosaminyl transferase 2 47209822 47247351 + 17 B4GALNT2 Homo sapiens Annotation Release 105 17q21.32 0 pathway-nonregistered-2016-03-17_02:31:49 1373 Homo sapiens human 608307 PHN CPSASE1 The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] carbamoyl-phosphate synthase 1, mitochondrial KEGG pathway: Nitrogen metabolism--- KEGG pathway: Biosynthesis of amino acids--- KEGG pathway: Alanine, aspartate and glutamate metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Carbon metabolism--- KEGG pathway: Arginine and proline metabolism--- Reactome Event:Metabolism 211342406 211543831 + 2 CPS1 Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 137868 Homo sapiens human 608113 ZSG1 The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] sarcoglycan, zeta 13947373 15095792 - 8 SGCZ Homo sapiens Annotation Release 105 8p22 0 pathway-nonregistered-2016-03-17_02:31:49 138046 Homo sapiens human 614648 HNRPCL3 RALY RNA binding protein-like 85095453 85834079 + 8 RALYL Homo sapiens Annotation Release 105 8q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 14 Homo sapiens human 603488 The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. [provided by RefSeq, Jul 2008] angio-associated, migratory cell protein 219128852 219134893 - 2 AAMP Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 140469 Homo sapiens human 610040 myosin IIIB 171034655 171511674 + 2 MYO3B Homo sapiens Annotation Release 105 2q31.1-q31.2 0 pathway-nonregistered-2016-03-17_02:31:49 140625 Homo sapiens human 608535 ARPM2 ARPT2 Arp-T2 HARPM2 The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008] actin-related protein T2 2938046 2939467 + 1 ACTRT2 Homo sapiens Annotation Release 105 1p36.32 0 pathway-nonregistered-2016-03-17_02:31:49 145581 Homo sapiens human 612811 SALM5 FIGLER8 C14orf146 leucine rich repeat and fibronectin type III domain containing 5 42076764 42373752 + 14 LRFN5 Homo sapiens Annotation Release 105 14q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 146691 Homo sapiens human 615519 target of myb1-like 2 (chicken) 17746822 17875784 - 17 TOM1L2 Homo sapiens Annotation Release 105 17p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 151011 Homo sapiens human 611737 This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] septin 10 110300372 110371783 - 2 SEPT10 Homo sapiens Annotation Release 105 2q13 0 pathway-nonregistered-2016-03-17_02:31:49 151525 Homo sapiens human UBOX6 WDSAM1 WD repeat, sterile alpha motif and U-box domain containing 1 160092304 160143304 - 2 WDSUB1 Homo sapiens Annotation Release 105 2q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 158038 Homo sapiens human 609793 LERN3 LRRN6C leucine rich repeat and Ig domain containing 2 27948084 29212998 - 9 LINGO2 Homo sapiens Annotation Release 105 9p21.2 0 pathway-nonregistered-2016-03-17_02:31:49 1630 Homo sapiens human 120470 CRC18 CRCR1 MRMV1 IGDCC1 This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009] deleted in colorectal carcinoma KEGG pathway: Pathways in cancer--- KEGG pathway: Axon guidance--- KEGG pathway: Colorectal cancer--- Reactome Event:Cell-Cell communication--- Reactome Event:Developmental Biology--- Reactome Event:Apoptosis 49866542 51062273 + 18 DCC Homo sapiens Annotation Release 105 18q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 1676 Homo sapiens human 601882 DFF1 ICAD DFF-45 Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] DNA fragmentation factor, 45kDa, alpha polypeptide KEGG pathway: Apoptosis--- Reactome Event:Apoptosis 10520588 10532613 - 1 DFFA Homo sapiens Annotation Release 105 1p36.3-p36.2 0 pathway-nonregistered-2016-03-17_02:31:49 1737 Homo sapiens human 608770 DLTA PDCE2 PDC-E2 This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] dihydrolipoamide S-acetyltransferase KEGG pathway: Glycolysis / Gluconeogenesis--- KEGG pathway: Pyruvate metabolism--- KEGG pathway: Citrate cycle (TCA cycle)--- KEGG pathway: Carbon metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 111895538 111935002 + 11 DLAT Homo sapiens Annotation Release 105 11q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 1861 Homo sapiens human 605204 DQ2 DYT1 The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] torsin family 1, member A (torsin A) Early-onset primary dystonia (DYT1) typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing of a foot, leg, or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions; e.g., writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present, except for postural arm tremor. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign.--- DYT1 is diagnosed by molecular genetic testing of TOR1A revealing the three-base pair deletion c.907_909delGAG in most affected individuals.--- DYT1 is inherited in an autosomal dominant manner with reduced penetrance. Offspring of an affected individual or an asymptomatic individual known to have a TOR1A disease-causing mutation have a 50% chance of inheriting the disease-causing mutation and a 30% to 40% chance of developing clinical findings. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known. 132575221 132586441 - 9 TOR1A Homo sapiens Annotation Release 105 9q34 0 pathway-nonregistered-2016-03-17_02:31:49 1894 Homo sapiens human 600586 ARHGEF31 The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] epithelial cell transforming sequence 2 oncogene Reactome Event:Signal Transduction 172468425 172539264 + 3 ECT2 Homo sapiens Annotation Release 105 3q26.1-q26.2 0 pathway-nonregistered-2016-03-17_02:31:49 202559 Homo sapiens human 610487 SLM1 SLM-1 bA535F17.1 KH domain containing, RNA binding, signal transduction associated 2 62389865 62996100 - 6 KHDRBS2 Homo sapiens Annotation Release 105 6q11.1 0 pathway-nonregistered-2016-03-17_02:31:49 2043 Homo sapiens human 602188 SEK HEK8 TYRO1 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] EPH receptor A4 KEGG pathway: Axon guidance 222282747 222437010 - 2 EPHA4 Homo sapiens Annotation Release 105 2q36.1 0 pathway-nonregistered-2016-03-17_02:31:49 2045 Homo sapiens human 602190 EHK3 HEK11 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] EPH receptor A7 KEGG pathway: Axon guidance 93949738 94129302 - 6 EPHA7 Homo sapiens Annotation Release 105 6q16.1 0 pathway-nonregistered-2016-03-17_02:31:49 2066 Homo sapiens human 600543 HER4 ALS19 p180erbB4 This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 KEGG pathway: Endocytosis--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Proteoglycans in cancer--- KEGG pathway: ErbB signaling pathway--- Reactome Event:Immune System--- Reactome Event:Signal Transduction--- Reactome Event:Disease 212240442 213403879 - 2 ERBB4 Homo sapiens Annotation Release 105 2q33.3-q34 0 pathway-nonregistered-2016-03-17_02:31:49 2184 Homo sapiens human 613871 This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008] fumarylacetoacetate hydrolase (fumarylacetoacetase) Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.--- Tyrosinemia type I results from deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), encoded by FAH. Typical biochemical findings include increased succinylacetone concentration in the blood and urine, elevated plasma concentrations of tyrosine; methionine, and phenylalanine; and elevated urinary concentration of tyrosine metabolites and the compound delta-ALA. Assay of FAH enzyme activity in skin fibroblasts is possible but not readily available. Molecular genetic testing by targeted mutation analysis for the four common FAH mutations and sequence analysis of the entire coding region can detect mutations in more than 95% of affected individuals.--- Tyrosinemia type I is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing alleles in a family are known. KEGG pathway: Tyrosine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 80445233 80478924 + 15 FAH Homo sapiens Annotation Release 105 15q25.1 0 pathway-nonregistered-2016-03-17_02:31:49 219957 Homo sapiens human OR9Q2P Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] olfactory receptor, family 9, subfamily Q, member 2 KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction 57957906 57958990 + 11 OR9Q2 Homo sapiens Annotation Release 105 11q12.1 0 pathway-nonregistered-2016-03-17_02:31:49 220972 Homo sapiens human 613335 MIR c-MIR RNF178 MARCH-VIII MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010] membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 45950033 46090354 - 10 MARCH8 Homo sapiens Annotation Release 105 10q11.21 0 pathway-nonregistered-2016-03-17_02:31:49 22993 Homo sapiens human SMF HMGX3 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] HMG box domain containing 3 149380169 149432706 + 5 HMGXB3 Homo sapiens Annotation Release 105 5q32 0 pathway-nonregistered-2016-03-17_02:31:49 2300 Homo sapiens human 603252 FKH6 FKHL11 FREAC7 This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012] forkhead box L1 86612115 86615304 + 16 FOXL1 Homo sapiens Annotation Release 105 16q24 0 pathway-nonregistered-2016-03-17_02:31:49 23213 Homo sapiens human 610012 SULF-1 HSULF-1 This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] sulfatase 1 70378859 70573147 + 8 SULF1 Homo sapiens Annotation Release 105 8q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 23549 Homo sapiens human 611367 DAP ASPEP The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. [provided by RefSeq, Jul 2008] aspartyl aminopeptidase 220238180 220264730 - 2 DNPEP Homo sapiens Annotation Release 105 2q35 0 pathway-nonregistered-2016-03-17_02:31:49 23586 Homo sapiens human 609631 RIGI RIG-I RLR-1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008] DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 KEGG pathway: NF-kappa B signaling pathway--- KEGG pathway: RIG-I-like receptor signaling pathway--- KEGG pathway: Hepatitis C--- KEGG pathway: Cytosolic DNA-sensing pathway--- KEGG pathway: Herpes simplex infection--- KEGG pathway: Measles--- KEGG pathway: Hepatitis B--- KEGG pathway: Influenza A--- KEGG pathway: Epstein-Barr virus infection--- Reactome Event:Immune System 32455300 32526322 - 9 DDX58 Homo sapiens Annotation Release 105 9p12 0 pathway-nonregistered-2016-03-17_02:31:49 23746 Homo sapiens human 604392 LCA4 AIPL2 Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq, Jul 2008] aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becomes evident in the first year of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400. A characteristic finding is Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing. The appearance of the fundus is extremely variable. While the retina may initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram (ERG) is characteristically "nondetectable" or severely subnormal.--- The diagnosis of LCA is established by clinical findings. Mutations in 17 genes are known to cause LCA: GUCY2D (locus name: LCA1), RPE65 (LCA2), SPATA7 (LCA3), AIPL1 (LCA4), LCA5 (LCA5), RPGRIP1 (LCA6), CRX (LCA7), CRB1 (LCA8), NMNAT1 (LCA9), CEP290 (LCA10), IMPDH1 (LCA11), RD3 (LCA12), RDH12 (LCA13), LRAT (LCA14), TULP1 (LCA15), KCNJ13 (LCA16), and IQCB1. Together, mutations in these genes are estimated to account for over half of all LCA diagnoses. At least one other disease locus for LCA has been reported, but the gene is not known.--- Most often LCA is inherited in an autosomal recessive manner. At conception, each sib of an individual with recessively inherited LCA has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members is possible if the disease-causing mutations in the family are known. Prenatal testing for pregnancies at increased risk is possible through laboratories offering either testing for the gene of interest or custom testing. Rarely, LCA is inherited in an autosomal dominant manner as a result of mutations within CRX; the possibility of autosomal dominant inheritance resulting from a de novo CRX mutation should be considered in individuals with LCA and no family history of the disease. 6327057 6338576 - 17 AIPL1 Homo sapiens Annotation Release 105 17p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 23768 Homo sapiens human 604807 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. [provided by RefSeq, Jul 2008] fibronectin leucine rich transmembrane protein 2 85996411 86095040 + 14 FLRT2 Homo sapiens Annotation Release 105 14q24-q32 0 pathway-nonregistered-2016-03-17_02:31:49 245806 Homo sapiens human 609979 VGL2 VITO1 This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] vestigial like 2 (Drosophila) 117586721 117594728 + 6 VGLL2 Homo sapiens Annotation Release 105 6q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 2483 Homo sapiens human 601278 FSG1 FRG1A This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008] FSHD region gene 1 Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and the stabilizers of the scapula or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.--- Although some controversy remains, FSHD is likely caused by inappropriate expression of the double homeobox-containing gene DUX4 in muscle cells. DUX4 lies in the macrosatellite repeat D4Z4 on chromosome 4q35, which has a length between 11 and 100 repeat units on normal alleles. Approximately 95% of individuals with FSHD have a D4Z4 allele of between one and ten repeat units. This common form of FSHD is designated FSHD1. Molecular genetic testing measures the length of the D4Z4 allele. About 5% of individuals with FSHD do not have a D4Z4 contraction.--- FSHD is inherited in an autosomal dominant manner. Approximately 70%-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10%-30% of affected individuals have FSHD as the result of a de novo deletion. Offspring of an affected individual have a 50% chance of inheriting the deletion. Prenatal testing for pregnancies at increased risk is possible if the D4Z4 contraction mutation has been identified in the family. 190861974 190884360 + 4 FRG1 Homo sapiens Annotation Release 105 4q35 0 pathway-nonregistered-2016-03-17_02:31:49 2524 Homo sapiens human 182100 SE Se2 sej SEC2 B12QTL1 The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] fucosyltransferase 2 (secretor status included) KEGG pathway: Glycosphingolipid biosynthesis - lacto and neolacto series--- KEGG pathway: Glycosphingolipid biosynthesis - globo series--- KEGG pathway: Metabolic pathways 49199228 49209191 + 19 FUT2 Homo sapiens Annotation Release 105 19q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 253017 Homo sapiens human TERL GPSN2L SRD5A2L2 trans-2,3-enoyl-CoA reductase-like Reactome Event:Metabolism 65142024 65275196 - 4 TECRL Homo sapiens Annotation Release 105 4q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 253935 Homo sapiens human 607666 angiopoietin-like 5 101761405 101787253 - 11 ANGPTL5 Homo sapiens Annotation Release 105 11q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 254050 Homo sapiens human leucine rich repeat containing 43 122652266 122688018 + 12 LRRC43 Homo sapiens Annotation Release 105 12q24.31 0 pathway-nonregistered-2016-03-17_02:31:49 254170 Homo sapiens human 609103 Fbx33 BMND12 c14_5247 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] F-box protein 33 39865577 39901704 - 14 FBXO33 Homo sapiens Annotation Release 105 14q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 254827 Homo sapiens human 608806 N-acetylated alpha-linked acidic dipeptidase-like 2 174577095 175523428 + 3 NAALADL2 Homo sapiens Annotation Release 105 3q26.31 0 pathway-nonregistered-2016-03-17_02:31:49 25853 Homo sapiens human CT102 TCC52 WDR40A KIAA1892 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009] DDB1 and CUL4 associated factor 12 34086381 34126771 - 9 DCAF12 Homo sapiens Annotation Release 105 9p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 25938 Homo sapiens human C14orf125 HEAT repeat containing 5A 31760994 31889788 - 14 HEATR5A Homo sapiens Annotation Release 105 14q12 0 pathway-nonregistered-2016-03-17_02:31:49 26053 Homo sapiens human 607270 FBRSL2 autism susceptibility candidate 2 No evidence available (Last evaluated (2013-11-06)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-11-06) 69063905 70257885 + 7 AUTS2 Homo sapiens Annotation Release 105 7q11.22 0 pathway-nonregistered-2016-03-17_02:31:49 26054 Homo sapiens human 605003 SSP1 SUSP1 Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] SUMO1/sentrin specific peptidase 6 76311596 76427997 + 6 SENP6 Homo sapiens Annotation Release 105 6q13-q14.3 0 pathway-nonregistered-2016-03-17_02:31:49 26577 Homo sapiens human 607064 PCPE2 procollagen C-endopeptidase enhancer 2 142536702 142608045 - 3 PCOLCE2 Homo sapiens Annotation Release 105 3q21-q24 0 pathway-nonregistered-2016-03-17_02:31:49 2690 Homo sapiens human 600946 GHBP This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] growth hormone receptor KEGG pathway: Cytokine-cytokine receptor interaction--- KEGG pathway: Jak-STAT signaling pathway--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Immune System--- Reactome Event:Signal Transduction 42423577 42721980 + 5 GHR Homo sapiens Annotation Release 105 5p13-p12 0 pathway-nonregistered-2016-03-17_02:31:49 2784 Homo sapiens human 139130 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described. [provided by RefSeq, Jul 2008] guanine nucleotide binding protein (G protein), beta polypeptide 3 KEGG pathway: Retrograde endocannabinoid signaling--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Ras signaling pathway--- KEGG pathway: Circadian entrainment--- KEGG pathway: Glutamatergic synapse--- KEGG pathway: Chemokine signaling pathway--- KEGG pathway: GABAergic synapse--- KEGG pathway: Taste transduction--- KEGG pathway: Cholinergic synapse--- KEGG pathway: Serotonergic synapse--- KEGG pathway: Dopaminergic synapse--- KEGG pathway: Morphine addiction--- KEGG pathway: Alcoholism--- Reactome Event:Hemostasis--- Reactome Event:Metabolism--- Reactome Event:Transmembrane transport of small molecules--- Reactome Event:Signal Transduction--- Reactome Event:Neuronal System 6949375 6956564 + 12 GNB3 Homo sapiens Annotation Release 105 12p13 0 pathway-nonregistered-2016-03-17_02:31:49 283238 Homo sapiens human 611698 NET46 SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] solute carrier family 22, member 24 62847412 62911693 - 11 SLC22A24 Homo sapiens Annotation Release 105 11q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 283726 Homo sapiens human family with sequence similarity 154, member B 82555152 82577271 + 15 FAM154B Homo sapiens Annotation Release 105 15q25.2 0 pathway-nonregistered-2016-03-17_02:31:49 284904 Homo sapiens human 612825 TAP3 The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] SEC14-like 4 (S. cerevisiae) 30884877 30901698 - 22 SEC14L4 Homo sapiens Annotation Release 105 22q12.2 0 pathway-nonregistered-2016-03-17_02:31:49 2917 Homo sapiens human 604101 GLUR7 MGLU7 GPRC1G MGLUR7 L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] glutamate receptor, metabotropic 7 KEGG pathway: Glutamatergic synapse--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction 6902802 7783218 + 3 GRM7 Homo sapiens Annotation Release 105 3p26.1-p25.1 0 pathway-nonregistered-2016-03-17_02:31:49 2954 Homo sapiens human 603758 MAI MAAI GSTZ1-1 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2008] glutathione S-transferase zeta 1 KEGG pathway: Tyrosine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 77787230 77797940 + 14 GSTZ1 Homo sapiens Annotation Release 105 14q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 305 Homo sapiens human LIP2 LPC2C ANX2L3 ANX2P3 annexin A2 pseudogene 3 66585285 66586634 + 10 ANXA2P3 Homo sapiens Annotation Release 105 10q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 338785 Homo sapiens human 611160 K6L KRT6L Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] keratin 79 53215231 53228077 - 12 KRT79 Homo sapiens Annotation Release 105 12q13.13 0 pathway-nonregistered-2016-03-17_02:31:49 340745 Homo sapiens human LRRC22 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 85980241 85985339 - 10 LRIT2 Homo sapiens Annotation Release 105 10q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 342574 Homo sapiens human KRT25C This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] keratin 27 38933060 38938786 - 17 KRT27 Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 3633 Homo sapiens human 147264 5PTase Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in response to extracellular signals. The IP signaling molecules are inactivated by a family of inositol polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] inositol polyphosphate-5-phosphatase, 75kDa KEGG pathway: Metabolic pathways--- KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Phosphatidylinositol signaling system 38326369 38412729 - 1 INPP5B Homo sapiens Annotation Release 105 1p34 0 pathway-nonregistered-2016-03-17_02:31:49 3655 Homo sapiens human 147556 CD49f VLA-6 ITGA6B The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] integrin, alpha 6 Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.--- Because the clinical features of all types of epidermolysis bullosa (EB) overlap significantly, examination of a skin biopsy by transmission electron microscopy (TEM) and/ or immunofluorescent antibody/antigen mapping is usually required to establish the diagnosis. The three genes in which mutations are known to cause EB-PA are ITGB4 (~80% of EB-PA), ITGA6 (~5%), and PLEC1 (~15%).--- EB-PA is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy are possible, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for family members at increased risk and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing mutations have been identified in the family. KEGG pathway: Hypertrophic cardiomyopathy (HCM)--- KEGG pathway: Pathways in cancer--- KEGG pathway: Focal adhesion--- KEGG pathway: Cell adhesion molecules (CAMs)--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: Regulation of actin cytoskeleton--- KEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Small cell lung cancer--- KEGG pathway: Hematopoietic cell lineage--- KEGG pathway: Arrhythmogenic right ventricular cardiomyopathy (ARVC)--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Toxoplasmosis 173291954 173371181 + 2 ITGA6 Homo sapiens Annotation Release 105 2q31.1 0 pathway-nonregistered-2016-03-17_02:31:49 3704 Homo sapiens human 147520 My049 C20orf37 dJ794I6.3 HLC14-06-P This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] inosine triphosphatase (nucleoside triphosphate pyrophosphatase) KEGG pathway: Drug metabolism - other enzymes--- KEGG pathway: Pyrimidine metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Purine metabolism--- Reactome Event:Metabolism 3189514 3204516 + 20 ITPA Homo sapiens Annotation Release 105 20p 0 pathway-nonregistered-2016-03-17_02:31:49 3856 Homo sapiens human 148060 K8 KO CK8 CK-8 CYK8 K2C8 CARD2 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] keratin 8 53290971 53343650 - 12 KRT8 Homo sapiens Annotation Release 105 12q13 0 pathway-nonregistered-2016-03-17_02:31:49 387921 Homo sapiens human This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012] NHL repeat containing 3 39612448 39624246 + 13 NHLRC3 Homo sapiens Annotation Release 105 13q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 3884 Homo sapiens human 602762 K33B HA3II Ha-3II KRTHA3A KRTHA3B hHa3-II This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] keratin 33B 39519746 39526052 - 17 KRT33B Homo sapiens Annotation Release 105 17q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 3890 Homo sapiens human 602766 HB4 KRTHB4 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008] keratin 84 52771596 52779417 - 12 KRT84 Homo sapiens Annotation Release 105 12q13 0 pathway-nonregistered-2016-03-17_02:31:49 389668 Homo sapiens human XRG9 XK, Kell blood group complex subunit-related family, member 9 71581600 71648177 + 8 XKR9 Homo sapiens Annotation Release 105 8q13.3 0 pathway-nonregistered-2016-03-17_02:31:49 401177 Homo sapiens human uncharacterized LOC401177 17379015 17387419 - 5 LOC401177 Homo sapiens Annotation Release 105 5p15.1 2 pathway-nonregistered-2016-03-17_02:31:49 445 Homo sapiens human 603470 ASS CTLN1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] argininosuccinate synthase 1 Citrullinemia type I (CTLN1) presents as a clinical spectrum that includes an acute neonatal form (the "classic" form), a milder late-onset form, a form without symptoms or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Distinction between the clinical forms is based on clinical findings and is not clear-cut. Infants with the acute neonatal form appear normal at birth. Shortly thereafter, they develop hyperammonemia and become progressively lethargic, feed poorly, often vomit, and may develop signs of increased intracranial pressure (ICP). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in ICP, increased neuromuscular tone, spasticity, ankle clonus, seizures, loss of consciousness, and death. Children with the severe form who are treated promptly may survive for an indeterminate period of time, but usually with significant neurologic deficits. The late-onset form may be milder than that seen in the acute neonatal form, for unknown reasons. The episodes of hyperammonemia are similar to those seen in the acute neonatal form, but the initial neurologic findings may be more subtle because of the older age of the affected individuals.--- Citrullinemia type I results from deficiency of the enzyme argininosuccinate synthase (ASS), the third step in the urea cycle, in which citrulline is condensed with aspartate to form argininosuccinic acid. Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 micromol/L). Plasma quantitative amino acid analysis shows absence of argininosuccinic acid and concentration of citrulline usually greater than 1000 micromol/L (normal:<50 micromol/L). Argininosuccinate synthase enzyme activity, measured in fibroblasts, liver, and in all tissues in which ASS is expressed, is decreased. ASS1 is the only gene in which mutation is known to cause citrullinemia type I.--- Citrullinemia type I is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known. KEGG pathway: Arginine and proline metabolism--- KEGG pathway: Alanine, aspartate and glutamate metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Biosynthesis of amino acids--- Reactome Event:Metabolism 133320094 133376661 + 9 ASS1 Homo sapiens Annotation Release 105 9q34.1 0 pathway-nonregistered-2016-03-17_02:31:49 4594 Homo sapiens human 609058 MCM This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008] methylmalonyl CoA mutase KEGG pathway: Propanoate metabolism--- KEGG pathway: Carbon metabolism--- KEGG pathway: Valine, leucine and isoleucine degradation--- KEGG pathway: Glyoxylate and dicarboxylate metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Disease--- Reactome Event:Metabolism 49398073 49431041 - 6 MUT Homo sapiens Annotation Release 105 6p12.3 0 pathway-nonregistered-2016-03-17_02:31:49 4622 Homo sapiens human 160742 MYH2B MyHC-2B MyHC-IIb myosin, heavy chain 4, skeletal muscle KEGG pathway: Tight junction--- Reactome Event:Membrane Trafficking 10346607 10372876 - 17 MYH4 Homo sapiens Annotation Release 105 17p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 4994 Homo sapiens human OR40 OLFRA03 OR17-40 OR17-82 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] olfactory receptor, family 3, subfamily A, member 1 KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction 3194929 3195876 - 17 OR3A1 Homo sapiens Annotation Release 105 17p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 50807 Homo sapiens human 605953 PAP PAG2 AMAP1 DDEF1 ZG14P CENTB4 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 KEGG pathway: Endocytosis--- KEGG pathway: Fc gamma R-mediated phagocytosis 131064350 131455906 - 8 ASAP1 Homo sapiens Annotation Release 105 8q24.1-q24.2 0 pathway-nonregistered-2016-03-17_02:31:49 5099 Homo sapiens human 602988 BHPCDH BH-Pcdh This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008] protocadherin 7 30721951 31148423 + 4 PCDH7 Homo sapiens Annotation Release 105 4p15 0 pathway-nonregistered-2016-03-17_02:31:49 51130 Homo sapiens human 605760 ASB-3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] ankyrin repeat and SOCS box containing 3 Reactome Event:Immune System 53897117 54014146 - 2 ASB3 Homo sapiens Annotation Release 105 2p16.2 0 pathway-nonregistered-2016-03-17_02:31:49 51148 Homo sapiens human CEECAM1 GLT25D3 cerebral endothelial cell adhesion molecule 131173854 131199630 + 9 CERCAM Homo sapiens Annotation Release 105 9q34.11 0 pathway-nonregistered-2016-03-17_02:31:49 51151 Homo sapiens human 606202 1A1 AIM1 MATP OCA4 SHEP5 This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] solute carrier family 45, member 2 33944721 33984780 - 5 SLC45A2 Homo sapiens Annotation Release 105 5p13.2 0 pathway-nonregistered-2016-03-17_02:31:49 5273 Homo sapiens human 602058 PI10 PI-10 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by a well-conserved tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-10 (PI10; SERPINB10) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] serpin peptidase inhibitor, clade B (ovalbumin), member 10 KEGG pathway: Amoebiasis 61575224 61602948 + 18 SERPINB10 Homo sapiens Annotation Release 105 18q21.3 0 pathway-nonregistered-2016-03-17_02:31:49 5321 Homo sapiens human 600522 PLA2G4 cPLA2-alpha This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. [provided by RefSeq, Jul 2008] phospholipase A2, group IVA (cytosolic, calcium-dependent) KEGG pathway: Fc epsilon RI signaling pathway--- KEGG pathway: MAPK signaling pathway--- KEGG pathway: Ras signaling pathway--- KEGG pathway: alpha-Linolenic acid metabolism--- KEGG pathway: Fc gamma R-mediated phagocytosis--- KEGG pathway: Glycerophospholipid metabolism--- KEGG pathway: Glutamatergic synapse--- KEGG pathway: GnRH signaling pathway--- KEGG pathway: Ovarian steroidogenesis--- KEGG pathway: Metabolic pathways--- KEGG pathway: Linoleic acid metabolism--- KEGG pathway: Ether lipid metabolism--- KEGG pathway: Arachidonic acid metabolism--- KEGG pathway: Long-term depression--- KEGG pathway: VEGF signaling pathway--- KEGG pathway: Serotonergic synapse--- KEGG pathway: Vascular smooth muscle contraction--- Reactome Event:Metabolism--- Reactome Event:Hemostasis--- Reactome Event:Signal Transduction 186798032 186958113 + 1 PLA2G4A Homo sapiens Annotation Release 105 1q25 0 pathway-nonregistered-2016-03-17_02:31:49 5334 Homo sapiens human 600597 PLCE PLCL PRIP PLDL1 phospholipase C-like 1 KEGG pathway: GABAergic synapse 198669426 199014608 + 2 PLCL1 Homo sapiens Annotation Release 105 2q33 0 pathway-nonregistered-2016-03-17_02:31:49 53904 Homo sapiens human 606808 DFNB30 The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] myosin IIIA Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).--- Genetic forms of hearing loss must be distinguished from acquired (non-genetic) causes of hearing loss. The genetic forms of hearing loss are diagnosed by otologic, audiologic, and physical examination, family history, ancillary testing (e.g., CT examination of the temporal bone), and molecular genetic testing. Molecular genetic testing, possible for many types of syndromic and nonsyndromic deafness, plays a prominent role in diagnosis and genetic counseling.--- Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by mitochondrial inheritance. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis. In the absence of a specific diagnosis, empiric recurrence risk figures, coupled with GJB2 and GJB6 molecular genetic testing results, can be used for genetic counseling. 26223002 26501465 + 10 MYO3A Homo sapiens Annotation Release 105 10p11.1 0 pathway-nonregistered-2016-03-17_02:31:49 54587 Homo sapiens human matrix-remodelling associated 8 1288071 1297183 - 1 MXRA8 Homo sapiens Annotation Release 105 1p36.33 0 pathway-nonregistered-2016-03-17_02:31:49 54758 Homo sapiens human kelch domain containing 4 87730239 87799603 - 16 KLHDC4 Homo sapiens Annotation Release 105 16q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 54869 Homo sapiens human 614987 DRC3 EPS8R1 PP10566 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] EPS8-like 1 55587221 55599291 + 19 EPS8L1 Homo sapiens Annotation Release 105 19q13.42 0 pathway-nonregistered-2016-03-17_02:31:49 55024 Homo sapiens human 610292 BANK The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] B-cell scaffold protein with ankyrin repeats 1 102711764 102995969 + 4 BANK1 Homo sapiens Annotation Release 105 4q24 0 pathway-nonregistered-2016-03-17_02:31:49 55350 Homo sapiens human 606592 HSA238982 This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. The open reading frame is disrupted by a frameshift, and all splice variants that have been described are candidates for nonsense-mediated decay (NMD). Consequently, it is unlikely that this gene expresses a protein in vivo, so it is classified as a pseudogene. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Aug 2009] vanin 3 133043926 133055904 - 6 VNN3 Homo sapiens Annotation Release 105 6q23.2 0 pathway-nonregistered-2016-03-17_02:31:49 55388 Homo sapiens human 609357 CNA43 DNA43 PRO2249 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] minichromosome maintenance complex component 10 Reactome Event:Cell Cycle--- Reactome Event:DNA Replication 13203554 13253104 + 10 MCM10 Homo sapiens Annotation Release 105 10p13 0 pathway-nonregistered-2016-03-17_02:31:49 5557 Homo sapiens human 176635 p49 The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] primase, DNA, polypeptide 1 (49kDa) KEGG pathway: Metabolic pathways--- KEGG pathway: Pyrimidine metabolism--- KEGG pathway: DNA replication--- KEGG pathway: Purine metabolism--- Reactome Event:Cell Cycle--- Reactome Event:DNA Replication 57125364 57146146 - 12 PRIM1 Homo sapiens Annotation Release 105 12q13 0 pathway-nonregistered-2016-03-17_02:31:49 55614 Homo sapiens human SNX23 C20orf23 KISC20ORF The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] kinesin family member 16B 16252742 16554079 - 20 KIF16B Homo sapiens Annotation Release 105 20p11.23 0 pathway-nonregistered-2016-03-17_02:31:49 55627 Homo sapiens human 610457 NET13 NSMASE3 NSMASE-3 Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008] sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) KEGG pathway: Metabolic pathways--- KEGG pathway: Sphingolipid metabolism--- Reactome Event:Metabolism 130908965 130940323 - 2 SMPD4 Homo sapiens Annotation Release 105 2q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 55681 Homo sapiens human CVAK104 SCY1-like 2 (S. cerevisiae) 100660918 100735502 + 12 SCYL2 Homo sapiens Annotation Release 105 12q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 55733 Homo sapiens human 605743 Skn SKI1 MART2 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] hedgehog acyltransferase 210501596 210849638 + 1 HHAT Homo sapiens Annotation Release 105 1q32 0 pathway-nonregistered-2016-03-17_02:31:49 55803 Homo sapiens human 608635 CENTA2 cent-b HSA272195 ArfGAP with dual PH domains 2 29248698 29286340 + 17 ADAP2 Homo sapiens Annotation Release 105 17q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 55968 Homo sapiens human 606610 P47 UBX1 UBXD10 UBXN2C dJ776F14.1 N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011] NSFL1 (p97) cofactor (p47) KEGG pathway: Protein processing in endoplasmic reticulum 1422807 1448345 - 20 NSFL1C Homo sapiens Annotation Release 105 20p13 0 pathway-nonregistered-2016-03-17_02:31:49 56899 Homo sapiens human 607815 EB1 AIDA EB-1 ANKS2 AIDA-1 cajalin-2 This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] ankyrin repeat and sterile alpha motif domain containing 1B 99128569 100378512 - 12 ANKS1B Homo sapiens Annotation Release 105 12q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 5732 Homo sapiens human 176804 EP2 This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009] prostaglandin E receptor 2 (subtype EP2), 53kDa KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction 52781016 52795324 + 14 PTGER2 Homo sapiens Annotation Release 105 14q22 0 pathway-nonregistered-2016-03-17_02:31:49 57475 Homo sapiens human pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 67999916 68056255 + 14 PLEKHH1 Homo sapiens Annotation Release 105 14q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 57575 Homo sapiens human 608286 PCDH19 OL-PCDH This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Alternatively spliced transcripts encode isoforms with unique cytoplasmic domains. [provided by RefSeq, Jul 2008] protocadherin 10 134070470 134112732 + 4 PCDH10 Homo sapiens Annotation Release 105 4q28.3 0 pathway-nonregistered-2016-03-17_02:31:49 57678 Homo sapiens human 602395 GPAT GPAT1 RP11-426E5.2 This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] glycerol-3-phosphate acyltransferase, mitochondrial KEGG pathway: Glycerolipid metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Glycerophospholipid metabolism--- Reactome Event:Metabolism 113907971 113975153 - 10 GPAM Homo sapiens Annotation Release 105 10q25.2 0 pathway-nonregistered-2016-03-17_02:31:49 57689 Homo sapiens human 608817 NGL1 NGL-1 NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] leucine rich repeat containing 4C KEGG pathway: Axon guidance--- KEGG pathway: Cell adhesion molecules (CAMs) 40135524 41481186 - 11 LRRC4C Homo sapiens Annotation Release 105 11p12 0 pathway-nonregistered-2016-03-17_02:31:49 577 Homo sapiens human 602684 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] brain-specific angiogenesis inhibitor 3 69345210 70099403 + 6 BAI3 Homo sapiens Annotation Release 105 6q12 0 pathway-nonregistered-2016-03-17_02:31:49 5802 Homo sapiens human 601576 PTPSIGMA The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] protein tyrosine phosphatase, receptor type, S Reactome Event:Extracellular matrix organization 5205514 5340814 - 19 PTPRS Homo sapiens Annotation Release 105 19p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 58515 Homo sapiens human 607916 HSPC030 HSPC297 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is localized to the endoplasmic reticulum and is highly expressed in the heart, where it may function as an antioxidant. [provided by RefSeq, Jul 2008] selenoprotein K 53919226 53925989 - 3 SELK Homo sapiens Annotation Release 105 3p21.31 2 pathway-nonregistered-2016-03-17_02:31:49 590 Homo sapiens human 177400 E1 CHE1 CHE2 Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] butyrylcholinesterase Reactome Event:Metabolism of proteins--- Reactome Event:Neuronal System--- Reactome Event:Metabolism 165490692 165555260 - 3 BCHE Homo sapiens Annotation Release 105 3q26.1-q26.2 0 pathway-nonregistered-2016-03-17_02:31:49 6101 Homo sapiens human 603937 ORP1 DCDC4A This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010] retinitis pigmentosa 1 (autosomal dominant) 55528627 55682524 + 8 RP1 Homo sapiens Annotation Release 105 8q12.1 0 pathway-nonregistered-2016-03-17_02:31:49 63982 Homo sapiens human 610110 DYT23 DYT24 TMEM16C C11orf25 GENX-3947 anoctamin 3 Reactome Event:Transmembrane transport of small molecules 26210458 26684836 + 11 ANO3 Homo sapiens Annotation Release 105 11p14.2 0 pathway-nonregistered-2016-03-17_02:31:49 64089 Homo sapiens human 614903 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] sorting nexin 16 82711816 82754539 - 8 SNX16 Homo sapiens Annotation Release 105 8q21.13 0 pathway-nonregistered-2016-03-17_02:31:49 64116 Homo sapiens human 608732 ZIP8 PP3105 BIGM103 LZT-Hs6 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] solute carrier family 39 (zinc transporter), member 8 Reactome Event:Transmembrane transport of small molecules 103172198 103266655 - 4 SLC39A8 Homo sapiens Annotation Release 105 4q22-q24 0 pathway-nonregistered-2016-03-17_02:31:49 6749 Homo sapiens human 604328 FACT T160 FACT80 The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] structure specific recognition protein 1 Reactome Event:Gene Expression--- Reactome Event:Disease 57093459 57103351 - 11 SSRP1 Homo sapiens Annotation Release 105 11q12 0 pathway-nonregistered-2016-03-17_02:31:49 6857 Homo sapiens human 185605 P65 SYT SVP65 The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] synaptotagmin I KEGG pathway: Synaptic vesicle cycle--- Reactome Event:Neuronal System--- Reactome Event:Disease 79257773 79845788 + 12 SYT1 Homo sapiens Annotation Release 105 12cen-q21 0 pathway-nonregistered-2016-03-17_02:31:49 6935 Homo sapiens human 189909 BZP TCF8 AREB6 FECD6 NIL2A PPCD3 ZFHEP ZFHX1A DELTAEF1 This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010] zinc finger E-box binding homeobox 1 KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Transcriptional misregulation in cancer 31607825 31818742 + 10 ZEB1 Homo sapiens Annotation Release 105 10p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 6999 Homo sapiens human 191070 TO TDO TPH2 TRPO This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012] tryptophan 2,3-dioxygenase KEGG pathway: Tryptophan metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism 156824845 156841558 + 4 TDO2 Homo sapiens Annotation Release 105 4q31-q32 0 pathway-nonregistered-2016-03-17_02:31:49 7005 Homo sapiens human 603170 TEF5 TEAD5 TEF-5 DTEF-1 ETFR-1 TEAD-3 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008] TEA domain family member 3 KEGG pathway: Hippo signaling pathway--- Reactome Event:Gene Expression 35441374 35464884 - 6 TEAD3 Homo sapiens Annotation Release 105 6p21.2 0 pathway-nonregistered-2016-03-17_02:31:49 7075 Homo sapiens human 600222 TIE JTK14 This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] tyrosine kinase with immunoglobulin-like and EGF-like domains 1 43766566 43788781 + 1 TIE1 Homo sapiens Annotation Release 105 1p34-p33 0 pathway-nonregistered-2016-03-17_02:31:49 716 Homo sapiens human 120580 This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] complement component 1, s subcomponent KEGG pathway: Complement and coagulation cascades--- KEGG pathway: Pertussis--- KEGG pathway: Staphylococcus aureus infection--- KEGG pathway: Systemic lupus erythematosus--- Reactome Event:Immune System 7167819 7178336 + 12 C1S Homo sapiens Annotation Release 105 12p13 0 pathway-nonregistered-2016-03-17_02:31:49 7444 Homo sapiens human 602169 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, leukocytes, fetal liver, and carcinomas. Its protein localizes to the endoplasmic reticulum and has been shown to phosphorylate casein and undergo autophosphorylation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] vaccinia related kinase 2 Reactome Event:Cell Cycle 58273777 58387055 + 2 VRK2 Homo sapiens Annotation Release 105 2p16.1 0 pathway-nonregistered-2016-03-17_02:31:49 7681 Homo sapiens human 603856 CPPB2 D15S9 RNF63 ZFP127 ZNF127 The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008] makorin ring finger protein 3 No evidence available (Last evaluated (2013-07-09)--- No evidence available (Last evaluated (2013-07-09) 23810454 23820764 + 15 MKRN3 Homo sapiens Annotation Release 105 15q11-q13 0 pathway-nonregistered-2016-03-17_02:31:49 79007 Homo sapiens human dysbindin (dystrobrevin binding protein 1) domain containing 1 90071279 90085937 - 16 DBNDD1 Homo sapiens Annotation Release 105 16q24.3 0 pathway-nonregistered-2016-03-17_02:31:49 79039 Homo sapiens human 611665 DP97 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 113594978 113623284 - 12 DDX54 Homo sapiens Annotation Release 105 12q24.13 0 pathway-nonregistered-2016-03-17_02:31:49 7915 Homo sapiens human 610045 SSDH SSADH This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] aldehyde dehydrogenase 5 family, member A1 KEGG pathway: Metabolic pathways--- KEGG pathway: Alanine, aspartate and glutamate metabolism--- KEGG pathway: Butanoate metabolism--- Reactome Event:Neuronal System 24495197 24537435 + 6 ALDH5A1 Homo sapiens Annotation Release 105 6p22 0 pathway-nonregistered-2016-03-17_02:31:49 79722 Homo sapiens human 615189 ankyrin repeat domain 55 55395507 55529186 - 5 ANKRD55 Homo sapiens Annotation Release 105 5q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 79794 Homo sapiens human chromosome 12 open reading frame 49 117151289 117175868 - 12 C12orf49 Homo sapiens Annotation Release 105 12q24.22 0 pathway-nonregistered-2016-03-17_02:31:49 80059 Homo sapiens human 610870 leucine rich repeat transmembrane neuronal 4 76974849 77749502 - 2 LRRTM4 Homo sapiens Annotation Release 105 2p12 0 pathway-nonregistered-2016-03-17_02:31:49 80201 Homo sapiens human hexokinase domain containing 1 KEGG pathway: Carbon metabolism--- KEGG pathway: HIF-1 signaling pathway--- KEGG pathway: Amino sugar and nucleotide sugar metabolism--- KEGG pathway: Starch and sucrose metabolism--- KEGG pathway: Insulin signaling pathway--- KEGG pathway: Metabolic pathways--- KEGG pathway: Butirosin and neomycin biosynthesis--- KEGG pathway: Fructose and mannose metabolism--- KEGG pathway: Galactose metabolism--- KEGG pathway: Type II diabetes mellitus--- KEGG pathway: Carbohydrate digestion and absorption--- KEGG pathway: Glycolysis / Gluconeogenesis 70980059 71027315 + 10 HKDC1 Homo sapiens Annotation Release 105 10q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 80731 Homo sapiens human thrombospondin, type I, domain containing 7B 137639718 138435287 + 2 THSD7B Homo sapiens Annotation Release 105 2q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 8076 Homo sapiens human 601103 MP25 MAGP2 This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl terminus and proline-, glutamine-, and tyrosine-rich regions, which are characteristics of a related 31-kDa microfibril-associated glycoprotein (MFAP2). The close similarity between these two proteins is confined to a central region of 60 aa where precise alignment of 7 cysteine residues occurs. The structural differences suggest that this encoded protein has some functions that are distinct from those of MFAP2. [provided by RefSeq, Jul 2008] microfibrillar associated protein 5 Reactome Event:Extracellular matrix organization 8798540 8815433 - 12 MFAP5 Homo sapiens Annotation Release 105 12p13.1-p12.3 0 pathway-nonregistered-2016-03-17_02:31:49 83450 Homo sapiens human leucine rich repeat containing 48 17876127 17920203 + 17 LRRC48 Homo sapiens Annotation Release 105 17p11.2 0 pathway-nonregistered-2016-03-17_02:31:49 83541 Homo sapiens human 611393 F10 C20orf55 bA371L19.3 family with sequence similarity 110, member A 814354 826922 + 20 FAM110A Homo sapiens Annotation Release 105 20p13 0 pathway-nonregistered-2016-03-17_02:31:49 83872 Homo sapiens human 608548 ARMD1 FBLN6 FIBL6 FIBL-6 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] hemicentin 1 185703683 186160085 + 1 HMCN1 Homo sapiens Annotation Release 105 1q25.3-q31.1 0 pathway-nonregistered-2016-03-17_02:31:49 84075 Homo sapiens human 611779 C14orf155 fibrous sheath CABYR binding protein 44973352 44976499 - 14 FSCB Homo sapiens Annotation Release 105 14q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 84109 Homo sapiens human 606925 AQ27 GPR103 SP9155 pyroglutamylated RFamide peptide receptor Reactome Event:Signal Transduction 122249797 122302181 - 4 QRFPR Homo sapiens Annotation Release 105 4q27 0 pathway-nonregistered-2016-03-17_02:31:49 84324 Homo sapiens human 610049 HCC1 THO1 CIP29 HSPC316 This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] SAP domain containing ribonucleoprotein 56146247 56211540 - 12 SARNP Homo sapiens Annotation Release 105 12q13.2 0 pathway-nonregistered-2016-03-17_02:31:49 84529 Homo sapiens human HH114 chromosome 15 open reading frame 41 36871812 37102449 + 15 C15orf41 Homo sapiens Annotation Release 105 15q14 0 pathway-nonregistered-2016-03-17_02:31:49 84570 Homo sapiens human 610004 AMY CLAC CLACP CLAC-P This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] collagen, type XXV, alpha 1 Reactome Event:Extracellular matrix organization 109731877 110223799 - 4 COL25A1 Homo sapiens Annotation Release 105 4q25 0 pathway-nonregistered-2016-03-17_02:31:49 8458 Homo sapiens human 604718 HuF2 This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008] transcription termination factor, RNA polymerase II KEGG pathway: Thyroid hormone synthesis 117602910 117645492 + 1 TTF2 Homo sapiens Annotation Release 105 1p22 0 pathway-nonregistered-2016-03-17_02:31:49 84626 Homo sapiens human KRAB-A domain containing 1 149412061 149431664 + 7 KRBA1 Homo sapiens Annotation Release 105 7q36 0 pathway-nonregistered-2016-03-17_02:31:49 84888 Homo sapiens human 608238 IMP3 PSL2 This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012] signal peptide peptidase like 2A 50999730 51057910 - 15 SPPL2A Homo sapiens Annotation Release 105 15q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 8513 Homo sapiens human 601980 GL HGL HLAL This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] lipase, gastric KEGG pathway: Metabolic pathways--- KEGG pathway: Fat digestion and absorption--- KEGG pathway: Glycerolipid metabolism 90424146 90438572 + 10 LIPF Homo sapiens Annotation Release 105 10q23.31 0 pathway-nonregistered-2016-03-17_02:31:49 8821 Homo sapiens human 607494 INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] inositol polyphosphate-4-phosphatase, type II, 105kDa KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Phosphatidylinositol signaling system--- Reactome Event:Metabolism 142949181 143767604 - 4 INPP4B Homo sapiens Annotation Release 105 4q31.21 0 pathway-nonregistered-2016-03-17_02:31:49 8913 Homo sapiens human 604065 NBR13 Cav3.1 Ca(V)T.1 Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] calcium channel, voltage-dependent, T type, alpha 1G subunit KEGG pathway: Calcium signaling pathway--- KEGG pathway: MAPK signaling pathway--- KEGG pathway: Circadian entrainment--- KEGG pathway: Type II diabetes mellitus--- Reactome Event:Developmental Biology 48638429 48704835 + 17 CACNA1G Homo sapiens Annotation Release 105 17q22 0 pathway-nonregistered-2016-03-17_02:31:49 89778 Homo sapiens human EPIPIN SERPIN11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) 61370194 61391123 + 18 SERPINB11 Homo sapiens Annotation Release 105 0 pathway-nonregistered-2016-03-17_02:31:49 89858 Homo sapiens human 606094 S2V SLG SIGLECL1 Siglec-XII Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] sialic acid binding Ig-like lectin 12 (gene/pseudogene) 51994613 52005043 - 19 SIGLEC12 Homo sapiens Annotation Release 105 19q13.4 0 pathway-nonregistered-2016-03-17_02:31:49 9026 Homo sapiens human 605613 HIP3 HIP12 ILWEQ huntingtin interacting protein 1 related Reactome Event:Membrane Trafficking 123319045 123347508 + 12 HIP1R Homo sapiens Annotation Release 105 12q24 0 pathway-nonregistered-2016-03-17_02:31:49 91107 Homo sapiens human 611041 GOA RNF100 tripartite motif containing 47 73870242 73874683 - 17 TRIM47 Homo sapiens Annotation Release 105 17q25 0 pathway-nonregistered-2016-03-17_02:31:49 91464 Homo sapiens human 612019 Pix-1 RAXLX Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008] intestine-specific homeobox 35462130 35483380 + 22 ISX Homo sapiens Annotation Release 105 22q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 9442 Homo sapiens human 605044 CRSP8 CRAP34 CRSP34 TRAP37 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] mediator complex subunit 27 Reactome Event:Gene Expression--- Reactome Event:Developmental Biology 134735497 134955274 - 9 MED27 Homo sapiens Annotation Release 105 9q34.13 0 pathway-nonregistered-2016-03-17_02:31:49 9627 Homo sapiens human 603779 Sph1 SYPH1 This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2011] synuclein, alpha interacting protein Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, and slowed movement (bradykinesia). Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. Generally, individuals with onset before age 20 years are considered to have juvenile-onset Parkinson disease, those with onset before age 50 years are classified as having early-onset Parkinson disease, and those with onset after age 50 years are considered to have late-onset Parkinson disease.--- The diagnosis of Parkinson disease is based solely on the clinical findings of tremor, rigidity, and bradykinesia. A good response to levodopa and asymmetric onset of limb involvement are generally regarded as supporting diagnostic features. The cardinal pathologic feature of Parkinson disease is the loss of dopaminergic neurons in the substantia nigra with intracytoplasmic inclusions (Lewy bodies) in the remaining, intact nigral neurons. The genetic cause of some forms of Parkinson disease has been identified. Seven genes have been implicated. Mutations in three known genes, SNCA (PARK1), UCHL1 (PARK5), and LRRK2 (PARK8) and one mapped gene (PARK3) result in autosomal dominant Parkinson disease. Mutations in three known genes, PARK2 (PARK2), PARK7 (PARK7), and PINK1 (PARK6), result in autosomal recessive Parkinson disease. Three susceptibility genes have been identified.--- Parkinson disease can be inherited in an autosomal dominant or autosomal recessive manner; however, most cases of Parkinson disease are thought to result from the effects of multiple genes as well as environmental risk factors. Genetic counseling of affected individuals and their family members must be done on a family-by-family basis. The risk to first-degree relatives of a person with Parkinson disease varies from study to study and from country to country. In families with a non-mendelian form of Parkinson disease, first-degree relatives of an affected individual are between 2.7 and 3.5 times more likely to develop Parkinson disease than individuals without a family history of Parkinson disease. Their cumulative lifetime risk of developing Parkinson disease is therefore between 3% and 7%. KEGG pathway: Parkinson's disease 121647455 121799794 + 5 SNCAIP Homo sapiens Annotation Release 105 5q23.2 0 pathway-nonregistered-2016-03-17_02:31:49 9699 Homo sapiens human 606630 OBOE RIM2 RAB3IP3 regulating synaptic membrane exocytosis 2 KEGG pathway: Insulin secretion 104512426 105266656 + 8 RIMS2 Homo sapiens Annotation Release 105 8q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 9764 Homo sapiens human 611675 KIAA0513 85061374 85127836 + 16 KIAA0513 Homo sapiens Annotation Release 105 16q24.1 0 pathway-nonregistered-2016-03-17_02:31:49 9833 Homo sapiens human 607025 HPK38 maternal embryonic leucine zipper kinase 36572859 36677680 + 9 MELK Homo sapiens Annotation Release 105 9p13.2 0 pathway-nonregistered-2016-03-17_02:31:49 995 Homo sapiens human 157680 CDC25 PPP1R60 This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq, Jul 2008] cell division cycle 25C KEGG pathway: Cell cycle--- KEGG pathway: Progesterone-mediated oocyte maturation--- KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Oocyte meiosis--- Reactome Event:Cell Cycle 137620959 137674064 - 5 CDC25C Homo sapiens Annotation Release 105 5q31 0 pathway-nonregistered-2016-03-17_02:31:49 54462 Homo sapiens human NA Gcap14 FAM190B KIAA1128 bA486O22.1 coiled-coil serine-rich protein 2 NA 84328586 84518521 + 10 CCSER2 Homo sapiens Annotation Release 107 10q23.1 0 pathway-nonregistered-2016-03-17_02:31:49 338557 Homo sapiens human 609044 GT01 PGR4 BMIQ10 GPR120 GPR129 O3FAR1 This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] free fatty acid receptor 4 NA 93566204 93590072 + 10 FFAR4 Homo sapiens Annotation Release 107 10q23.33 0 pathway-nonregistered-2016-03-17_02:31:49 25758 Homo sapiens human 612297 G2 C11orf41 C11orf69 KIAA1549-like NA NA 33376568 33674102 + 11 KIAA1549L Homo sapiens Annotation Release 107 11p13 0 pathway-nonregistered-2016-03-17_02:31:49 26011 Homo sapiens human 610084 Doc4 ODZ4 TNM4 Ten-M4 teneurin transmembrane protein 4 NA 78653283 79440989 - 11 TENM4 Homo sapiens Annotation Release 107 11q14.1 0 pathway-nonregistered-2016-03-17_02:31:49 283310 Homo sapiens human 614925 DFNB84B C12orf64 The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] otogelin-like NA 80130502 80379090 + 12 OTOGL Homo sapiens Annotation Release 107 12q21.31 0 pathway-nonregistered-2016-03-17_02:31:49 100505967 Homo sapiens human NA long intergenic non-protein coding RNA 645 NA 27612588 27639636 + 14 LINC00645 Homo sapiens Annotation Release 107 14 0 pathway-nonregistered-2016-03-17_02:31:49 145508 Homo sapiens human NA C14orf61 LEDP/132 C14orf145 centrosomal protein 128kDa NA NA 80476988 80959501 - 14 CEP128 Homo sapiens Annotation Release 107 14q31.1 0 pathway-nonregistered-2016-03-17_02:31:49 90417 Homo sapiens human 614718 SKAP HSD11 C15orf23 TRAF4AF1 kinetochore-localized astrin/SPAG5 binding protein NA 40382721 40394288 + 15 KNSTRN Homo sapiens Annotation Release 107 15q15.1 0 pathway-nonregistered-2016-03-17_02:31:49 54715 Homo sapiens human 605104 2BP1 FOX1 A2BP1 FOX-1 HRNBP1 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] RNA binding protein, fox-1 homolog (C. elegans) 1 No evidence available (Last evaluated (2013-06-20)--- Little evidence for dosage pathogenicity (Last evaluated (2013-06-20) NA 5239782 7713340 + 16 RBFOX1 Homo sapiens Annotation Release 107 16p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 84081 Homo sapiens human 616173 CCDC55 NSrp70 HSPC095 nuclear speckle splicing regulatory protein 1 NA NA 30116807 30186475 + 17 NSRP1 Homo sapiens Annotation Release 107 17q11.2 0 pathway-nonregistered-2016-03-17_02:31:49 100505591 Homo sapiens human NA leucine rich repeat containing 3C NA NA 39927722 39945034 + 17 LRRC3C Homo sapiens Annotation Release 107 17q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 63895 Homo sapiens human 613629 DA3 DA5 MWKS FAM38B HsT748 HsT771 FAM38B2 C18orf30 C18orf58 The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] piezo-type mechanosensitive ion channel component 2 NA NA 10670134 11148762 - 18 PIEZO2 Homo sapiens Annotation Release 107 18p11.22 0 pathway-nonregistered-2016-03-17_02:31:49 647946 Homo sapiens human NA long intergenic non-protein coding RNA 669 NA NA 39206924 39751995 - 18 LINC00669 Homo sapiens Annotation Release 107 18q12.2-q12.3 0 pathway-nonregistered-2016-03-17_02:31:49 9811 Homo sapiens human 613178 Gm672 KIAA0427 CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009] CBP80/20-dependent translation initiation factor NA NA 48539056 48863217 + 18 CTIF Homo sapiens Annotation Release 107 18q21.1 0 pathway-nonregistered-2016-03-17_02:31:49 29094 Homo sapiens human NA GRP HSPC159 lectin, galactoside-binding-like NA NA 64454193 64461383 + 2 LGALSL Homo sapiens Annotation Release 107 2p14 0 pathway-nonregistered-2016-03-17_02:31:49 401145 Homo sapiens human NA FAM190A coiled-coil serine-rich protein 1 NA NA 90127394 91602219 + 4 CCSER1 Homo sapiens Annotation Release 107 4q22.1 0 pathway-nonregistered-2016-03-17_02:31:49 101410545 Homo sapiens human NA STPG2 antisense RNA 1 NA NA 97366926 97490164 + 4 STPG2-AS1 Homo sapiens Annotation Release 107 4q22.3 0 pathway-nonregistered-2016-03-17_02:31:49 285555 Homo sapiens human NA C4orf37 sperm-tail PG-rich repeat containing 2 NA NA 97441146 98143470 - 4 STPG2 Homo sapiens Annotation Release 107 4q22.3-q23 0 pathway-nonregistered-2016-03-17_02:31:49 728081 Homo sapiens human NA NCRNA00290 long intergenic non-protein coding RNA 290 NA NA 181064089 181159149 - 4 LINC00290 Homo sapiens Annotation Release 107 4q34.3 0 pathway-nonregistered-2016-03-17_02:31:49 60684 Homo sapiens human 614138 GRY FOIGR LGMD2S C4orf41 The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013] trafficking protein particle complex 11 NA NA 183659267 183713594 + 4 TRAPPC11 Homo sapiens Annotation Release 107 4q35.1 0 pathway-nonregistered-2016-03-17_02:31:49 729862 Homo sapiens human NA lymphocyte-specific protein 1 pseudogene 3 NA NA 28926870 28927313 + 5 LSP1P3 Homo sapiens Annotation Release 107 5p13.3 0 pathway-nonregistered-2016-03-17_02:31:49 133558 Homo sapiens human NA HEATR7B2 maestro heat-like repeat family member 2B NA NA 40998020 41071342 - 5 MROH2B Homo sapiens Annotation Release 107 5p13.1 0 pathway-nonregistered-2016-03-17_02:31:49 9366 Homo sapiens human NA RAB9P1 RAB9B, member RAS oncogene family pseudogene 1 NA NA 105099474 105100098 + 5 RAB9BP1 Homo sapiens Annotation Release 107 5q21.2 0 pathway-nonregistered-2016-03-17_02:31:49 57451 Homo sapiens human 610119 ODZ2 TNM2 TEN-M2 teneurin transmembrane protein 2 NA NA 166979078 168264157 + 5 TENM2 Homo sapiens Annotation Release 107 5q34 0 pathway-nonregistered-2016-03-17_02:31:49 157777 Homo sapiens human NA C8orf45 minichromosome maintenance domain containing 2 NA 66870749 66926386 + 8 MCMDC2 Homo sapiens Annotation Release 107 8q13.1 0 pathway-nonregistered-2016-03-17_02:31:49 11064 Homo sapiens human 605496 FAN CEP1 CEP110 bA165P4.1 This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] centriolin NA 121074955 121177610 + 9 CNTRL Homo sapiens Annotation Release 107 9q33.2 0