Category
Count
PValue

PANTHER_PATHWAY (Count=2, P val=0.05)
Category Term Count PValue Genes Bonferroni Benjamini
PANTHER_PATHWAYP00012:Cadherin signaling pathway170.000177869291098868ERBB4,CDH6,CDH9,PCDH10,CDH23,PCDH7,CDH7,CDH18,CDH13,CDHR1,PCDH15,CTNNA3,DCHS2,SVEP1,PCDH9,FAT4,CDH20.01377922402039540.0137792240203954
PANTHER_PATHWAYP00044:Nicotinic acetylcholine receptor signaling pathway110.0012668912811893MYH4,MYH13,CHRNA3,MYO3B,MYO3A,MYO6,MYO7B,BCHE,CHRNA9,MYO16,MYO5B0.09414874885539020.0482378179688953
PANTHER_PATHWAYP00031:Inflammation mediated by chemokine and cytokine signaling pathway200.0158238911569504PLCL1,PLA2G4A,MYO3B,VWF,TNC,COL12A1,RRAS,MYH4,MYH13,MYLK,PLCE1,PLCG2,COL6A6,MYO3A,TTN,PIK3C2G,INPPL1,ITGA6,ASPM,MYO160.7118093942630830.339468895710888
PANTHER_PATHWAYP00016:Cytoskeletal regulation by Rho GTPase100.0193001541176663TUBB1,MYH4,MYH13,MYLK,MYO3B,DIAPH3,MYO3A,TTN,MYO16,ASPM0.7813163319051560.316160650312624
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locusID OMIM synonyms genesummary genename phenotypes pathways GeneLowPoint GeneHighPoint chr genesymbol cyto
251171810ALPG GCAP ALPPLThere 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 alkaline phosphatase, placental-like 2KEGG pathway: Folate biosynthesis--- KEGG pathway: Metabolic pathways2332715522332754242ALPPL22q37
23284LEC3 CIRL3This 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 proteolatrophilin 362066949629381684LPHN34q13.1
93035607843PKHDL1polycystic kidney and hepatic disease 1 (autosomal recessive)-like 11103747061105435008PKHD1L18q23
32601557ACC2 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 acetyl-CoA carboxylase betaKEGG 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:D10955422210970603112ACACB12q24.11
2670137780This 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. Alternativeglial fibrillary acidic proteinAlexander 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 foReactome Event:Signal Transduction429829944299292017GFAP17q21
55729613644AM MCAF p621 MCAF1 ATF-IPATF7IP 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 protein145185661465586412ATF7IP12p13.1
120892609007PARK8 RIPK7 ROCO2 AURA17 DARDARINThis 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 cytoplleucine-rich repeat kinase 2KEGG pathway: Parkinson's disease406188134076308712LRRK212q12
91074610856NY-BR-1 RP11-20F24.1ankyrin repeat domain 30A374147853752149510ANKRD30A10p11.21
9759605314HD4 AHO3 BDMR HDACA HA6116 HDAC-4 HDAC-AHistones 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 deacetylasehistone deacetylase 4No 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:Disease2399698642403233462HDAC42q37.3
4745602319NRP1 IDH3GLThis 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 differentNEL-like 1 (chicken)206911172159723211NELL111p15.1
55534608991GDN MAM2 CAGH3 ERDA3 MAM-2 TNRC3mastermind-like 3 (Drosophila)KEGG pathway: Notch signaling pathway--- Reactome Event:Disease--- Reactome Event:Gene Expression--- Reactome Event:Signal Transduction1406375451410752334MAML34q28
29994605683WALp4bromodomain adjacent to zinc finger domain, 2B1601754901604730592BAZ2B2q24.2
400954echinoderm microtubule associated protein like 654952149551991572EML62p16.1
113251PP13296La ribonucleoprotein domain family, member 4507945925087378812LARP412q13.12
85378610053GCP6 GCP-6 MCCRP MCPHCRThe 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 6Reactome Event:Cell Cycle506561185068345322TUBGCP622q13.31-q13.33
4744162230NFHNeurofilaments 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 neneurofilament, heavy polypeptideAmyotrophic 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 weKEGG pathway: Amyotrophic lateral sclerosis (ALS)298761812988727922NEFH22q12.2
9394604846HH15 HS6STThe 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 heparan sulfate 6-O-sulfotransferase 1KEGG pathway: Glycosaminoglycan biosynthesis - heparan sulfate / heparin1290230541290761712HS6ST12q21
91752612282C2orf10zinc finger protein 804A1854630931858042142ZNF804A2q32.1
56999605421This 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 (TADAM metallopeptidase with thrombospondin type 1 motif, 9Reactome Event:Extracellular matrix organization64501330646736763ADAMTS93p14.1
4593601296This 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 muscle, skeletal, receptor tyrosine kinaseReactome Event:Extracellular matrix organization1134309351135663869MUSK9q31.3-q32
23193104160G2AN GLUIIglucosidase, alpha; neutral ABKEGG pathway: Metabolic pathways--- KEGG pathway: Protein processing in endoplasmic reticulum--- KEGG pathway: N-Glycan biosynthesis--- Reactome Event:Metabolism of proteins--- Reactome Event:Signal Transduction623922986241419811GANAB11q12.3
9215603590MDC1D MDDGA6 MDDGB6This 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 chalike-glycosyltransferase336685093431646422LARGE22q12.3
114103070AC8 ADCY3 HBAC1Adenylate 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 inhibiadenylate 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--1317925461320530128ADCY88q24
64848CAHLYTH domain containing 21128493911129309845YTHDC25q22.2
55814607012TFC5 TFNR TAF3B1 TFIIIB'' TFIIIB90 HSA238520 TFIIIB150The 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 tyB double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB70751442708636495BDP15q13
7466606201WFS WFRS WFSLThis 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 InsiWolfram 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 proteins627157763049924WFS14p16.1
114800coiled-coil domain containing 85A56411258566133092CCDC85A2p16.1
8567603584DENN IG20 RAB3GEPTumor 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 proteMAP-kinase activating death domain472909274735158211MADD11p11.2
4988600018MOP MOR LMOR MOR1 OPRM M-OR-1This 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 abuseopioid receptor, mu 1KEGG pathway: Estrogen signaling pathway--- KEGG pathway: Morphine addiction--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction1543316311545680016OPRM16q24-q25
57628608209DPL2 DPPY DPRP3This 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 proteasedipeptidyl-peptidase 10 (non-functional)1151998991166033282DPP102q14.1
200162PF6 RP4-776P7.2sperm associated antigen 171184962881187278481SPAG171p12
10279607169TSSPThis 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, protease, serine, 16 (thymus)27215480272243996PRSS166p21
65065609816ALS2CR16 ALS2CR17 A530083I02Rikneurobeachin-like 12038795972040911012NBEAL12q33.2
8492606709MRT1 BSSP3 BSSP-3This 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 unkprotease, serine, 12 (neurotrypsin, motopsin)1192011931192740534PRSS124q28.1
4547157147ABL MTPMTP 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 abetalimicrosomal triglyceride transfer proteinKEGG pathway: Fat digestion and absorption--- Reactome Event:Metabolism1004852401005451544MTTP4q24
24601691FFM RMP ABCR RP19 STGD ABC10 ARMD2 CORD3 STGD1The 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, GCATP-binding cassette, sub-family A (ABC1), member 4KEGG pathway: ABC transporters--- Reactome Event:Signal Transduction--- Reactome Event:Disease--- Reactome Event:Transmembrane transport of small molecules94458393945867051ABCA41p22
23268611282TUBA ARHGEF36 RP11-114F7.3DNMBP 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 protein10163533410176967610DNMBP10q24.2
341640608945This 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 cFRAS1 related extracellular matrix protein 2392611733946126813FREM213q13.3
51103606934CGI65 CIA30 CGI-65This 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 mitochondriaNADH dehydrogenase (ubiquinone) complex I, assembly factor 1416795474169465815NDUFAF115q11.2-q21.3
1303120320COL12A1L BA209D8.1 DJ234P15.1This 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, type XII, alpha 1KEGG pathway: Protein digestion and absorption--- Reactome Event:Extracellular matrix organization75794042759156236COL12A16q12-q13
2051602757HEPThis 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. ExpressiEPH receptor B6KEGG pathway: Axon guidance1425527761425688477EPHB67q33-q35
2042179611EK4 ETK HEK ETK1 HEK4 TYRO4This 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 extracellulaEPH receptor A3KEGG pathway: Axon guidance89156674895312843EPHA33p11.2
2044600004EK7 CEK7 EHK1 HEK7 EHK-1 TYRO4This 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 extracellulaEPH receptor A5KEGG pathway: Axon guidance66185281665365294EPHA54q13.1
8930603574MED1The 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 proteimethyl-CpG binding domain protein 4KEGG pathway: Base excision repair--- Reactome Event:DNA Repair1291497871291590223MBD43q21.3
2530602589This 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 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 proteins658773106621083914FUT814q24.3
219931612163TPC2 SHEP10This 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 exprestwo pore segment channel 2KEGG pathway: Pancreatic secretion--- Reactome Event:Transmembrane transport of small molecules688163506885807211TPCN211q13.3
85413608276CT2 OAT6 OCT6 OKB1 FLIPT2 dJ261K5.1This 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 insolute carrier family 22 (organic cation/carnitine transporter), member 16Reactome Event:Transmembrane transport of small molecules1107458901107978446SLC22A166q22.1
5362601054OCT PLXN2This 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 tranplexin A2KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology2081955872084176651PLXNA21q32.2
63027611697C6orf85SLC22A23 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 23326920734569546SLC22A236p25.2
6948613441II TC TC2 TC-2 TCII TC II D22S676 D22S750This 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 mammaltranscobalamin IIKEGG pathway: Vitamin digestion and absorption--- Reactome Event:Disease--- Reactome Event:Metabolism310030703102304722TCN222q12.2
10154604259CD232 VESPR PLXN-C1This 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 mplexin C1KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology945424999470145112PLXNC112q23.3
55720611214TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)2225972224067817TSR117p13.3
91289TMEM153 TMEM112Blipase maturation factor 2509413765094614822LMF222q13.33
340359C8ORFK36kelch-like family member 381246577431246660418KLHL388q24.13
377007kelch-like family member 302390473102390615472KLHL302q37.3
3488146734IBP5insulin-like growth factor binding protein 5Reactome Event:Metabolism of proteins2175368282175602722IGFBP52q33-q36
23224608442NUA EDMD5 Nesp2 TROPH NUANCE SYNE-2 Nesprin-2The 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 fospectrin repeat containing, nuclear envelope 2Reactome Event:Meiosis--- Reactome Event:Cell Cycle643196836469316714SYNE214q23.2
93107607603KV6.3 KV6.4Voltage-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 tranpotassium voltage-gated channel, subfamily G, member 4Reactome Event:Neuronal System842547418427335616KCNG416q24.1
4811131390NIDThis 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 1Reactome Event:Extracellular matrix organization2361391302362284811NID11q43
8906603534G2ADAdaptins 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. Adapadaptor-related protein complex 1, gamma 2 subunitKEGG pathway: Lysosome240287772403875414AP1G214q11.2
8633603610UNC5H3This 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 actionunc-5 homolog C (C. elegans)KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology96083655964703614UNC5C4q21-q23
54887ICBP90 C6orf107 dJ349A12.1 RP3-349A12.1UHRF1 binding protein 134759794348452916UHRF1BP16p21
10881604303The 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 cellulaactin-like 7A1116246031116260359ACTL7A9q31
1301120280STL2 COLL6 CO11A1This 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 Marshallcollagen, type XI, alpha 1No 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 organization1033420231035740521COL11A11p21
10290BPEG APEG1 APEG-1 SPEGbeta SPEGalphaThis 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 transcripSPEG complex locus2202995522203583542SPEG2q35
27123605415DKK-2This 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, dickkopf WNT signaling pathway inhibitor 2KEGG pathway: Wnt signaling pathway1078429591079574534DKK24q25
53353608766LRPDIT LRP-DITLRP1B 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 1B1409889961428892702LRP1B2q21.2
2053132811CEH SEHThis 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 trepoxide hydrolase 2, cytoplasmicKEGG pathway: Metabolic pathways--- KEGG pathway: Arachidonic acid metabolism--- KEGG pathway: Peroxisome--- Reactome Event:Metabolism27348519274024398EPHX28p21
2622605178GAS11This 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 genegrowth arrest-specific 8900860569011137916GAS816q24.3
54433606468NOLA1This 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. TheseGAR1 ribonucleoproteinKEGG pathway: Ribosome biogenesis in eukaryotes1107366661107458934GAR14q25
4323600754MMP-14 MMP-X1 MT-MMP MT1MMP MTMMP1 WNCHRS MT1-MMP MT-MMP 1Proteins 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 sematrix metallopeptidase 14 (membrane-inserted)KEGG pathway: GnRH signaling pathway--- KEGG pathway: TNF signaling pathway--- Reactome Event:Extracellular matrix organization233057422331680914MMP1414q11.2
152404608351CT119 VSIG3 Igsf13 BT-IgSF CXADRL1IGSF11 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 111186194771188649153IGSF113q13.32
54221608715SYN5 G2SYNThis 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 prsyntrophin, gamma 294655413714012SNTG22p25.3
11037605357SALF SBLF STN1 STNB1Endocytosis 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 stonin 148757308488256542STON12p16.3
286749SALFSTON1-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 sSTON1-GTF2A1L readthrough48757064490036562STON1-GTF2A1L2p16.3
23026615479MYR8 MYAP3 NYAP3 Myo16bmyosin XVI10924850010986035513MYO1613q33.3
285135fibrous sheath interacting protein 21863185121863395212FSIP22q32.1
338107730FLDB LDLCQ4This 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 singlapolipoprotein BThe 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 Transduction21224301212669452APOB2p24-p23
4649604875This 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 membersmyosin IXA721146327241044015MYO9A15q22-q23
3417147700IDH IDP IDCD IDPC PICDIsocitrate 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 isisocitrate dehydrogenase 1 (NADP+), solubleKEGG 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--2091009512091204782IDH12q33.3
151056610179PLB hPLB PLB/LIPphospholipase B1KEGG 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 abso28718938288666542PLB12p23.2
3886602764HA5 Ha-5 hHa5 KRTHA5The 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 transcrkeratin 35396329413963739217KRT3517q21.2
3882602760HA2 HKA2 hHa2 KRTHA2The 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 trakeratin 32396157653962363817KRT3217q21.2
8688604541HA7 K37 KRTHA7The 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 trakeratin 37395768093958082217KRT3717q21.2
4648606541myosin VIIB1282933781283953032MYO7B2q21.1
223117609907coll-2 Sema-Z2sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3DKEGG pathway: Axon guidance84624508848161717SEMA3D7q21.11
54798612486CDHJ CDH27 CDHR7 PCDHJ PCDH23dachsous cadherin-related 21551555271554129304DCHS24q31.3
4645606540The 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 VBReactome Event:Transmembrane transport of small molecules473491564772154218MYO5B18q21
7273188840TMD CMH9 CMD1G CMPD4 EOMFC HMERF MYLK5 LGMD2JThis 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 regititinKEGG pathway: Dilated cardiomyopathy--- KEGG pathway: Hypertrophic cardiomyopathy (HCM)1793907161796721502TTN2q31
8456600838WHN RONU FKHL20Mutations 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 transcripforkhead box N1268332492686517517FOXN117q11-q12
26278604490ARSACS DNAJC29This 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 largespastic ataxia of Charlevoix-Saguenay (sacsin)239029622400786713SACS13q12
125115K40 KA36 CK-40This 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, composekeratin 40391339683914338717KRT4017q21.2
2305602341MPP2 TGT3 HFH11 HNF-3 INS-1 MPP-2 PIG29 FKHL16 FOXM1B HFH-11 TRIDENT MPHOSPH2The 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 beeforkhead box M1Reactome Event:Cell Cycle2966846298632112FOXM112p13
3371187380GP JI TN HXB GMEM TN-C DFNA56 150-225This 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 atenascin CKEGG pathway: MicroRNAs in cancer--- KEGG pathway: PI3K-Akt signaling pathway--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Focal adhesion--- Reactome Event:Extracellular matrix organization1177818541178805369TNC9q33
79887phospholipase B domain containing 1Reactome Event:Metabolism146565971472079112PLBD112p13.1
124842transmembrane protein 132E329077683296633717TMEM132E17q12
7227604386GC79 LGCRThis 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 atrichorhinophalangeal syndrome INo evidence available (Last evaluated (2013-04-16)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-04-16)1164207241167132998TRPS18q24.12
23245612856bA67K19.1This 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 proteiastrotactin 21191875041201773179ASTN29q33.1
6400602329SEL1L1 PRO1063 SEL1-LIKEThe 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 varisel-1 suppressor of lin-12-like (C. elegans)KEGG pathway: Protein processing in endoplasmic reticulum819378918200020514SEL1L14q31
364602974AQP9 AQP7L AQPap GLYCQTLAquaporins/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 clusteraquaporin 7KEGG pathway: PPAR signaling pathway--- Reactome Event:Transmembrane transport of small molecules33384948334026439AQP79p13
8728603640MLTNB FKSG34 MADDAMThis 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 interactiADAM metallopeptidase domain 191568220711570028315ADAM195q33.3
9098604334HRP1 TRE2 TRE17 Tre-2 USP6-shortubiquitin specific peptidase 6 (Tre-2 oncogene)5031687507832717USP617p13
9721611240GRIN2 KIAA0514G protein regulated inducer of neurite outgrowth 2469930034700565410GPRIN210q11.22
259232611549INNFD CanIon VGCNL1 bA430M15.1NALCN 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-selectiveReactome Event:Transmembrane transport of small molecules10170613010206881313NALCN13q32.3
4646600970DFNA22 DFNB37This 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 VIHereditary 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 eReactome Event:Membrane Trafficking--- Reactome Event:Neuronal System76458893766292546MYO66q13
8997604605DUO CHD5 DUET TRAD CHDS5 HAPIP ARHGEF24Huntington'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 kalirin, RhoGEF kinaseReactome Event:Signal Transduction1238135581244400363KALRN3q21.2
2581606890This 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 transcgalactosylceramidaseKEGG pathway: Lysosome--- KEGG pathway: Sphingolipid metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism883041648846000914GALC14q31
4638600922KRP AAT7 MLCK MLCK1 MYLK1 smMLCK MLCK108 MLCK210 MSTP083This 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 gmyosin light chain kinaseThe 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 contraction1233311431236031493MYLK3q21
6433361057610C RGL1This 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 maRho GTPase activating protein 9578660385788275612ARHGAP912q13.3
26509604603FER1L3Mutations 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 associatesmyoferlin950661869524219010MYOF10q24
57666fibrosin-like 113306704113316177412FBRSL112q24.33
5470602256PPP7CBThis 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 expresprotein phosphatase, EF-hand calcium binding domain 276781025768236814PPEF24q21.1
57620610841This 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 activationstromal interaction molecule 2KEGG pathway: Calcium signaling pathway26859329270270034STIM24p15.2
11120613590BTF1 BT2.1 DJ3E1.1 BK14H9.1This 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 inbutyrophilin, subfamily 2, member A126458132264768496BTN2A16p22.1
374308611791PTRpatched domain containing 3276871172770329710PTCHD310p12.1
26686OR14-42Olfactory 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 shaolfactory receptor, family 4, subfamily E, member 2KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction221332972213423814OR4E214q11.2
1756300377BMD CMD3B DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272The 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 occurringdystrophinNo 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 contraction3113734533357726XDMDXp21.2
23302WSC domain containing 15972426602774717WSCD117p13.2
92797614539hDHBThis 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) B666963356673742312HELB12q14.3
27185605210SCZD9 C1orf136This 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 disrupted in schizophrenia 1No evidence available (Last evaluated (2013-05-14)--- No evidence available (Last evaluated (2013-05-14)2317625612321770181DISC11q42.1
3682604682CD103 HUMINAEIntegrins 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 thintegrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)KEGG pathway: Regulation of actin cytoskeleton--- Reactome Event:Extracellular matrix organization3617919370453717ITGAE17p13
81624614567AN DIA2 DRF3 AUNA1 NSDAN diap3 mDia2This 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 difdiaphanous-related formin 3KEGG pathway: Regulation of actin cytoskeleton602397176073811913DIAPH313q21.2
50628606969p97 HC56 HCAP1 HHRF-1The 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. Thegem (nuclear organelle) associated protein 4KEGG pathway: RNA transport--- Reactome Event:Gene Expression64766165603817GEMIN417p13
7450613160VWD F8VWFThe 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 von Willebrand factorKEGG 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 Transduction6058040623383612VWF12p13.3
2935139259GST1 ETF3A eRF3a 551G9.2G1 to S phase transition 1KEGG pathway: mRNA surveillance pathway119619851201051916GSPT116p13.1
57605608920NIR3 NIR-3 RDGB2 RDGBA2PITPNM2 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 212346802712363537612PITPNM212q24.31
80212coiled-coil domain containing 9212442095512445737312CCDC9212q24.31
220047HSD9coiled-coil domain containing 83855661448563106411CCDC8311q14.1-q14.2
65217605514USH1F CDHR15 DFNB23This 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 Tprotocadherin-related 15Hereditary 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 e555625315656105110PCDH1510q21.1
339965coiled-coil domain containing 15877234192773332854CCDC1584q21.1
149465614259VWS2This 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.WD repeat domain 6543638001437200291WDR651p34.2
283431G2L3growth arrest-specific 2 like 310096744610102065712GAS2L312q23.1
6927142410HNF1 LFB1 TCF1 MODY3 TCF-1 HNF-1A IDDM20The 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 HNF1 homeobox AKEGG pathway: Maturity onset diabetes of the young12141586112144031512HNF1A12q24.2
283208608987This 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. Inprolyl 4-hydroxylase, alpha polypeptide IIIKEGG pathway: Arginine and proline metabolism--- KEGG pathway: Metabolic pathways739585327402269911P4HA311q13.4
1804126141VF2 DPPXThis 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 proteasedipeptidyl-peptidase 61535844191542640257DPP67q36.2
9172603509TTNAPThe 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. Tmyomesin 2199308220933808MYOM28p23.3
116966609005This 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 171769869851771039794WDR174q34
23600604489RM RACE CBAS4 AMACRDThis 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 localalpha-methylacyl-CoA racemaseKEGG pathway: Peroxisome--- KEGG pathway: Metabolic pathways--- KEGG pathway: Primary bile acid biosynthesis--- Reactome Event:Metabolism33987091340082205AMACR5p13
346007612424RP25 SPAM EGFL10 EGFL11 C6orf178 C6orf179 C6orf180 bA74E24.1 dJ22I17.2 bA166P24.2 bA307F22.3 dJ1018A4.2 dJ303F19.1The 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 feyes shut homolog (Drosophila)64429876664171186EYS6q12
27148607652FUThis 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 theserine/threonine kinase 36KEGG pathway: Hedgehog signaling pathway--- KEGG pathway: Basal cell carcinoma--- KEGG pathway: Pathways in cancer2195367492195674402STK362q35
2960189962FE TF2E1 TFIIE-Ageneral transcription factor IIE, polypeptide 1, alpha 56kDaKEGG pathway: Basal transcription factors--- KEGG pathway: Viral carcinogenesis--- KEGG pathway: Epstein-Barr virus infection--- Reactome Event:Disease--- Reactome Event:Gene Expression1204615581205022163GTF2E13q21-q24
259266605481ASP MCPH5 Calmbp1This 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 regulaasp (abnormal spindle) homolog, microcephaly associated (Drosophila)1970532571971158241ASPM1q31
11162606261GFG1 GFG-1 ASFGF2 FGF-AS FGF2ASThis 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 alsonudix (nucleoside diphosphate linked moiety X)-type motif 61238137991238441594NUDT64q26
64779methenyltetrahydrofolate synthetase domain containing865637828658884116MTHFSD16q24.1
1801603527DPH2L OVCA1 DPH2L1Diphthamide 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 Pseudomonadiphthamide biosynthesis 11933431194718317DPH117p13.3
84695607163LOXLThis 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 highlysyl oxidase-like 3Reactome Event:Extracellular matrix organization74759946747810882LOXL32p13
23503612012SPG15 FYVE-CENTThis 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-1zinc finger, FYVE domain containing 26682132376828330614ZFYVE2614q24.1
25992SST3 Snepsushi, nidogen and EGF-like domains 12419382132420385152SNED12q37.3
5426174762FILS POLE1 CRCS12This 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, Seppolymerase (DNA directed), epsilon, catalytic subunitKEGG 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--- Reactom13320034413326405012POLE12q24.3
9857GM133 CAP350The 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 proteincentrosomal protein 350kDa1799239081800840151CEP3501q25.2
10721604419POLH PRO0327polymerase (DNA directed), theta1211502731212648533POLQ3q13.33
84294C8orf53UTP23, small subunit (SSU) processome component, homolog (yeast)1177787421177924498UTP238q24.11
79633612411FATJ FAT-J CDHF14 CDHR11 VMLDS2 NBLA00548This 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 breasFAT atypical cadherin 41262370031264140874FAT44q28.1
130560TSARG1spermatogenesis associated 32318608392318845722SPATA32q37.1
9851KIAA07536481645654506617KIAA075317p13.1
51196608414PLCE PPLC NPHS3This 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, differphospholipase C, epsilon 1KEGG 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---957537469608814910PLCE110q23
284656611123Ephrin 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 additEPH receptor A1038181646382308241EPHA101p34.3
2121604831EVC1 EVCL DWF-1This 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 syndrome571292458160314EVC4p16
55127BAP28 UTP10 RP11-385F5.3HEAT repeat containing 1KEGG pathway: Ribosome biogenesis in eukaryotes2367123052367678411HEATR11q43
5336600220FCAS3 APLAID RP11-510J16.3The 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 importaphospholipase 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: Pathway818128998199629016PLCG216q24.1
2098133280FGHThis 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'sesterase DKEGG pathway: Carbon metabolism473453914737142313ESD13q14.1-q14.2
8549606667FEX HG38 GPR49 GPR67 GRP49leucine-rich repeat containing G protein-coupled receptor 5KEGG pathway: Neuroactive ligand-receptor interaction718329317198009012LGR512q22-q23
50859607989TES-3 TICN3 HSAJ1454This 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 splicesparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 31676545351681557414SPOCK34q32.3
440275609280GCN2EIF2AK4 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 4KEGG 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: Measles402263314032779715EIF2AK415q15.1
131669613012HMFN0320This 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 retardurocanate hydratase 1KEGG pathway: Histidine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism1262000081262366163UROC13q21.3
273600418AMPH1This 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 encoamphiphysinKEGG pathway: Fc gamma R-mediated phagocytosis38423297386711677AMPH7p14-p13
132884607261LBNThis 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 chondroectodermEllis van Creveld syndrome 2554453157112754EVC24p16.2-p16.1
201456609093FBX15Members 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, F-box protein 15717405887181510018FBXO1518q22.3
11153HYPE HIP13 UNQ3041FIC domain containing10890905110891338012FICD12q24.1
23414603693DIH3 FOG2 ZNF89B hFOG-2 ZC2HC11BThe 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 protzinc finger protein, FOG family member 2No evidence available (Last evaluated (2013-04-16)--- Some evidence for dosage pathogenicity (Last evaluated (2013-04-16)KEGG pathway: MicroRNAs in cancer--- Reactome Event:Hemostasis1063309171068167678ZFPM28q23
342125transmembrane channel-like 3816247608166641815TMC315q25.1
617603647BCS BJS PTD BCS1 FLNMS h-BCS MC3DN1 GRACILE Hs.6719This 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. MutatBC1 (ubiquinol-cytochrome c reductase) synthesis-likeReactome Event:Metabolism of proteins2195243792195281662BCS1L2q33
347088PGR24G protein-coupled receptor 1441272134231272393799GPR1449q33.3
80781120328KS KNO KNO1This 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 cocollagen, type XVIII, alpha 1KEGG pathway: Protein digestion and absorption468250584693363421COL18A121q22.3
90485BC37295_3zinc finger protein 835571737295718315119ZNF83519q13.43
60529605420CRS5 FND2This 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 bonALX homeobox 4No evidence available (Last evaluated (2013-06-11)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-11)442822784433173511ALX411p11.2
1770603330DYH9 HL20 DNEL1 HL-20 Dnahc9 DNAH17LThis 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 describeddynein, axonemal, heavy chain 9115017481187306517DNAH917p12
56171610061DNAH7 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 71966024271969335362DNAH72q32.3
27019604366PCD DIC1 ICS1 CILD1This 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 movemdynein, axonemal, intermediate chain 1Primary 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 witKEGG pathway: Huntington's disease34458750345209879DNAI19p13.3
79987611691CCP22 SELOB SEL-OB C9orf13 POLYDOMsushi, von Willebrand factor type A, EGF and pentraxin domain containing 11131275281133421609SVEP19q32
9696ROLTciliary rootlet coiled-coil, rootletin17248445172994741CROCC1p36.13
29119607667VR22catenin (cadherin-associated protein), alpha 3KEGG 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 pathw676722766945594910CTNNA310q22.2
84059602851FEB4 MASS1 USH2B USH2C VLGR1 VLGR1bThis 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 aG protein-coupled receptor 9889854617904602545GPR985q13
248171740IAPThere 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 cellalkaline phosphatase, intestinalKEGG pathway: Metabolic pathways--- KEGG pathway: Folate biosynthesis2333208332333254552ALPI2q37.1
580601593This 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 sBRCA1 associated RING domain 12155903702156744282BARD12q34-q35
10788605401This 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 IQ motif containing GTPase activating protein 2KEGG pathway: Regulation of actin cytoskeleton75699131760039575IQGAP25q13.3
1601601236DOC2 DOC-2This 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 tyroDab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)KEGG pathway: Endocytosis--- Reactome Event:Membrane Trafficking39371776394253355DAB25p13.1
6237165090related RAS viral (r-ras) oncogene homologKEGG 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 501385525014340019RRAS19q13.33
54867transmembrane protein 21427255774272645652TMEM2142p23.3
23348607325ZIZ1 ZIZIMIN1 RP11-155N3.2dedicator of cytokinesis 9Reactome Event:Hemostasis994457419973866013DOCK913q32.3
64863HsT661methyltransferase like 42537524257148918METTL418p11.32
23150GRSP1 6030440G05RikFERM domain containing 4B69219146694354303FRMD4B3p14.1
140766607506This 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 (TSADAM metallopeptidase with thrombospondin type 1 motif, 14Reactome Event:Extracellular matrix organization724325597252219710ADAMTS1410q21
1603600243OST2DAD1, 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 lodefender against cell death 1KEGG pathway: Metabolic pathways--- KEGG pathway: Protein processing in endoplasmic reticulum--- KEGG pathway: N-Glycan biosynthesis--- Reactome Event:Signal Transduction--- Reactome Event:Metabolism of proteins230338072305814314DAD114q11.2
55584605116NACHRA9 HSA243342This 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 icholinergic receptor, nicotinic, alpha 9 (neuronal)KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Neuronal System40337346403572344CHRNA94p14
1136118503LNCR2 PAOD2 NACHRA3This 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 encocholinergic receptor, nicotinic, alpha 3 (neuronal)KEGG pathway: Cholinergic synapse--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Neuronal System788853947891363715CHRNA315q24
145173610308B3GTL Gal-T B3GLCT B3Glc-T beta3Glc-TThe 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).[providebeta 1,3-galactosyltransferase-likePeters 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 centraKEGG pathway: Other types of O-glycan biosynthesis317741123190641313B3GALTL13q12.3
4846163729eNOS ECNOSNitric 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 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 halluKEGG 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--- Rea1506881441507116877NOS37q36
3636600829OPSMD SHIP2The 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 metainositol polyphosphate phosphatase-like 1KEGG 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:Metabol719349167195019111INPPL111q13
4842163731NOS bNOS nNOS IHPS1 N-NOS NC-NOSThe 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.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 pa11764592111779960712NOS112q24.22
23170dJ526I14.2tubulin tyrosine ligase-like family, member 12435626284358313722TTLL1222q13.31
129684610519caspr5This 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 dcontactin associated protein-like 51247828641256729542CNTNAP52q14.3
285643609184kinesin family member 4BReactome Event:Immune System--- Reactome Event:Hemostasis--- Reactome Event:Developmental Biology1543932601543976855KIF4B5q33.1
121551ABTB2BBTB (POZ) domain containing 1110771219710805341912BTBD1112q23.3
1828125670DG1 DSG CDHF4 EPKHE PPKS1 SPPK1 EPKHIADesmosomes 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 desmoglein 1KEGG pathway: Staphylococcus aureus infection--- Reactome Event:Apoptosis288980522893739418DSG118q12.1
84643615142kinesin family member 2BReactome Event:Cell Cycle--- Reactome Event:Hemostasis--- Reactome Event:Immune System519002395190257317KIF2B17q22
79846chromosome 7 open reading frame 6389874488899403777C7orf637q21.13
165215KIAA1946family with sequence similarity 171, member B1875587891876306862FAM171B2q32.1
51752606832ALAP A-LAP ARTS1 ERAAP APPILS ARTS-1 ERAAP1 PILSAP PILS-APThe 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 inendoplasmic reticulum aminopeptidase 1Reactome Event:Immune System96096514961498485ERAP15q15
64167609497LRAP L-RAPAminopeptidases 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 thendoplasmic reticulum aminopeptidase 296211644962554205ERAP25q15
9855FIR FRG PLEKHC3FERM, RhoGEF and pleckstrin domain protein 2KEGG pathway: Adherens junction--- KEGG pathway: Rap1 signaling pathway--- Reactome Event:Developmental Biology2422956642424342562FARP22q37.3
283162OR8B4P OR11-315Olfactory 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 shaolfactory receptor, family 8, subfamily B, member 4KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction12429383812429476711OR8B411q24.2
344148608789NAP5 ERIH1 ERIH2NCK-associated protein 51334293611343991182NCKAP52q21.2
9612600848SMRT TRAC CTG26 SMRTE TRAC1 N-CoR2 TNRC14 TRAC-1 SMAP270 SMRTE-tauThis 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 hnuclear receptor corepressor 2KEGG 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:Metabolism12480895712505207912NCOR212q24
123041609840NCKX4 SHEP6 SLC24A2This 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 4Reactome Event:Transmembrane transport of small molecules927889259296782514SLC24A414q32.12
81027612901This 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 proplatelettubulin, beta 1 class VIKEGG pathway: Phagosome--- KEGG pathway: Pathogenic Escherichia coli infection--- KEGG pathway: Gap junction--- Reactome Event:Metabolism of proteins575943095760170920TUBB120q13.32
56155605792CT113The 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 14566340385676941617TEX1417q22
9585605498CT90 MPP1 KRMP1 MPP-1 MPHOSPH1kinesin family member 20B914612649153470010KIF20B10q23.31
2624137295DCML NFE1B MONOMACThis 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 GATA binding protein 2Familial 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., leukemReactome Event:Hemostasis1281982651282120303GATA23q21.3
64478608397PPP1R24CUB and Sushi multiple domains 1279287548523288CSMD18p23.2
55719610348C10orf6family with sequence similarity 178, member A10267232610272489110FAM178A10q24.31
25914610436This 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, mutationrotatin676710406787296218RTTN18q22.2
153643family with sequence similarity 81, member B94727048947861455FAM81B5q15
57507NY-REN-36zinc finger protein 6081239726061240845175ZNF6085q23.2
283375608730ZIP5 LZT-Hs7Zinc 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 characteristisolute carrier family 39 (zinc transporter), member 5Reactome Event:Transmembrane transport of small molecules566238205663163012SLC39A512q13.3
23112610740trinucleotide repeat containing 6BReactome Event:Cellular responses to stress--- Reactome Event:Disease--- Reactome Event:Gene Expression--- Reactome Event:Immune System--- Reactome Event:Signal Transduction404400464073181222TNRC6B22q13.1
136332leucine-rich repeats and guanylate kinase domain containing1338121051339489337LRGUK7q33
202333612193SPRYD2 TRIM76 C5orf10cardiomyopathy associated 578985659790960495CMYA55q14.1
287106410LQT4 ANK-2 brank-2This 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. Moankyrin 2, neuronalKEGG pathway: Proteoglycans in cancer1137392391143048964ANK24q25-q27
288600465MRT37 ANKYRIN-GAnkyrins 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 ankyrin 3, node of Ranvier (ankyrin G)KEGG pathway: Proteoglycans in cancer--- Reactome Event:Developmental Biology617860566249328410ANK310q21
55107610108DOG1 TAOS2 ORAOV2 TMEM16Aanoctamin 1, calcium activated chloride channel699244087003565111ANO111q13.3
4720602985CI-49The 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 nucNADH 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:Metabolism1611672091611841851NDUFS21q23
1285120070Type 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. Thiscollagen, 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 reKEGG 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:Extracellular2280292812281795082COL4A32q36-q37
1369603103CPN SCPNCarboxypeptidase 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 tetcarboxypeptidase N, polypeptide 1Reactome Event:Metabolism of proteins10180206510184164210CPN110q24.2
3257604982HPSThis 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. MHermansky-Pudlak syndrome 1Hermansky-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: hypopigm10017595510020672010HPS110q23.1-q23.3
56919614405DDX33This 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 initDEAH (Asp-Glu-Ala-His) box polypeptide 335344232537238017DHX3317p13.2
8701603339CILD7 DNHBL DPL11 DNAHBL DNAHC11This 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 cdynein, axonemal, heavy chain 1121582833219414517DNAH117p21
91351DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like1692778861694016654DDX60L4q32.3
2986300041CYGF GC-F GUC2F GUC2DL RETGC-2 ROS-GC2The 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 siguanylate cyclase 2F, retinalKEGG pathway: Purine metabolism--- KEGG pathway: Phototransduction--- Reactome Event:Disease--- Reactome Event:Signal Transduction108616135108725285XGUCY2FXq22
414301DNA-damage inducible 1 homolog 1 (S. cerevisiae)10390730810390992211DDI111q22.3
5288609001PI3K-C2GAMMAThe 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 cphosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gammaKEGG pathway: Metabolic pathways--- KEGG pathway: Phosphatidylinositol signaling system--- KEGG pathway: Inositol phosphate metabolism--- Reactome Event:Metabolism183959121880135212PIK3C2G12p12
154664607807In 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 proteATP-binding cassette, sub-family A (ABC1), member 13KEGG pathway: ABC transporters48211057486870917ABCA137p12.3
26154607800LI2 ICR2B ARCI4A ARCI4BThe 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, GCATP-binding cassette, sub-family A (ABC1), member 12Although 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 iKEGG pathway: ABC transporters--- Reactome Event:Transmembrane transport of small molecules2157962662160031512ABCA122q34
4035107770APR LRP A2MR CD91 APOER LRP1A TGFBR5 IGFBP3RThe 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 proteinlow density lipoprotein receptor-related protein 1KEGG pathway: Malaria--- KEGG pathway: Alzheimer's disease--- Reactome Event:Signal Transduction--- Reactome Event:Binding and Uptake of Ligands by Scavenger Receptors--- Reactome Event:Disease575222825760714212LRP112q13.3
4036600073DBS GP330The 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 extracellulalow density lipoprotein receptor-related protein 2KEGG pathway: Thyroid hormone synthesis--- KEGG pathway: Hedgehog signaling pathway--- Reactome Event:Disease--- Reactome Event:Signal Transduction--- Reactome Event:Metabolism1699836191702191232LRP22q31.1
4038604270CLSS LRP-4 LRP10 MEGF7 SOST2This 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 4468782684694017311LRP411p11.2
987606453BGL LBA CDC4L CVID8 LAB300The 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 recLPS-responsive vesicle trafficking, beach and anchor containing1511858111519368794LRBA4q31.3
57705613316C10orf64WDFY family member 4498929075019100110WDFY410q11.23
219770611922CX40.1 RP11-425A6.2Connexins, 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])gap junction protein, delta 4, 40.1kDaReactome Event:Membrane Trafficking358943383589786310GJD410p11.21
8218601273CLTD CHC22 CLH22 CLTCLThis 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 encodiclathrin, heavy chain-like 1KEGG 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 Traffic191669861927924722CLTCL122q11.21
902601953CAK p34 p37The 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 patternscyclin HKEGG 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 Cycle86687310867088505CCNH5q13.3-q14
178610860GDEThis 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 associaamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseKEGG pathway: Starch and sucrose metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism1003156331003895791AGL1p21
55781RIO2RIO kinase 2KEGG pathway: Ribosome biogenesis in eukaryotes96496571965190055RIOK25q15
672113705IRIS PSCP BRCAI BRCC1 PNCA4 RNF53 BROVCA1 PPP1R53This 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 BRCAbreast cancer 1, early onsetThe 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 Cycle411963124127750017BRCA117q21
23511hNup188 KIAA0169The 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-specifinucleoporin 188kDaKEGG pathway: RNA transport--- Reactome Event:Disease--- Reactome Event:Cell Cycle--- Reactome Event:Immune System--- Reactome Event:Transmembrane transport of small molecules--- Reactome Event:Metabolism1317099721317693759NUP1889q34.11
340152611106TFL p34 MCPIP4 C6orf95 dJ281H8.1zinc finger CCCH-type containing 12D1497687661498061486ZC3H12D6q25.1
5462OTF3C OTF3P1 OCT4-PG1 POU5F1P1 POU5F1P4 POU5FLC8 POU5FLC20This 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 shPOU class 5 homeobox 1B1284271311284294558POU5F1B8q24.21
1565124030CPD6 CYP2D CYP2DL1 CYPIID6 P450C2D P450DB1 CYP2D7AP CYP2D7BP CYP2D7P2 CYP2D8P2 P450-DB1This 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 knowcytochrome P450, family 2, subfamily D, polypeptide 6KEGG pathway: Serotonergic synapse--- KEGG pathway: Drug metabolism - cytochrome P450--- KEGG pathway: Metabolism of xenobiotics by cytochrome P450--- Reactome Event:Metabolism425225014252688322CYP2D622q13.1
92211609502RP65 PRCAD CORD15 PCDH21This 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 cadherin-related family member 1859543918597937710CDHR110q23.1
56914606067FDP MIAL1This 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 associotoraplin167289981673280920OTOR20p12.1-p11.23
339976RNF209tripartite motif family-like 11890605981890686494TRIML14q35.2
7399608400US2 RP39 USH2 dJ1111A8.1This 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 2A (autosomal recessive, mild)2157962362165967381USH2A1q41
2317603381AOI FH1 SCT TAP LRS1 TABP FLN-B FLN1L ABP-278 ABP-280This 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 fofilamin B, betaNo 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 System57994127581579823FLNB3p14.3
131873collagen, type VI, alpha 6KEGG pathway: Focal adhesion--- KEGG pathway: ECM-receptor interaction--- KEGG pathway: Protein digestion and absorption--- KEGG pathway: PI3K-Akt signaling pathway1302361981303958903COL6A63q22.1
85416This 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 cerebZic family member 510061527510062417813ZIC513q32.3
132430poly(A) binding protein, cytoplasmic 4-likeKEGG pathway: RNA degradation--- KEGG pathway: RNA transport--- KEGG pathway: mRNA surveillance pathway1351174881351229034PABPC4L4q28.3
1000114020CDHN NCAD CD325 CDw325This 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 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 communication255309302575744518CDH218q11.2
7082601009ZO-1This 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 2tight junction protein 1KEGG 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:Sig299923383026103815TJP115q13
50937608707CDO CDON1 HPE11 ORCAMThis 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 interactionscell adhesion associated, oncogene regulatedReactome Event:Developmental Biology12582671312593318711CDON11q24.2
5314606702FCYT ARPKD TIGM1The 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 transcrpolycystic kidney and hepatic disease 1 (autosomal recessive)51480145519524236PKHD16p12.2
6683604277FSP2 SPG4 ADPSPThis 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 fospastinSpastic 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 disturbanc32288660323827062SPAST2p24-p21
23138LZTS4NEDD4 binding protein 31775405561775531075N4BP35q35.3
64072605516USH1D CDHR23This 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 andcadherin-related 23731566917357570410CDH2310q22.1
6261180901CCO MHS RYR MHS1 RYDR SKRR RYR-1This 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 susryanodine 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 molecules389243403907820419RYR119q13.1
6262180902RyR ARVC2 ARVD2 RYR-2 VTSIPThis 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 muryanodine 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: Pancr2372055102379972881RYR21q43
23363610991Cytoskeletal 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 centralobscurin-like 13-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, squa2204154502204363572OBSL12q35
8050608769E3BP OPDX PDX1 proX DLDBPThe 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 kinaspyruvate dehydrogenase complex, component XKEGG pathway: Citrate cycle (TCA cycle)--- KEGG pathway: Metabolic pathways--- KEGG pathway: Pyruvate metabolism--- KEGG pathway: Glycolysis / Gluconeogenesis--- Reactome Event:Metabolism349376773501767511PDHX11p13
1012601364CDHH P105This 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 becadherin 13Reactome Event:Cell-Cell communication826603998383021516CDH1316q23.3
84957611211TRLT TNFRSF19LThe 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-cellRELT tumor necrosis factor receptorKEGG pathway: Cytokine-cytokine receptor interaction730874057310851911RELT11q13.4
53942607219NB-2 HNB-2sThe 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 mcontactin 59889170610022961611CNTN511q22.1
5101603581This 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.protocadherin 9No evidence available (Last evaluated (2012-06-08)--- No evidence available (Last evaluated (2012-06-08)668769666780446813PCDH913q21.32
10085606018DEL1The 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 383236414836806855EDIL35q14
338645608178PRO6246 KFSP2566This 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 2245185162510418611LUZP211p14.3
79659603297ATD3 DHC2 DHC1b DNCH2 DYH1B SRPS2B hdhc11This 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 cidynein, cytoplasmic 2, heavy chain 1KEGG pathway: Phagosome--- KEGG pathway: Vasopressin-regulated water reabsorption--- KEGG pathway: Salmonella infection--- Reactome Event:Immune System10298016010335059111DYNC2H111q21-q22.1
2175607139FA FA1 FAA FAH FA-H FACA FANCHThe 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 Fanconi anemia, complementation group AFanconi 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, forKEGG pathway: Fanconi anemia pathway--- Reactome Event:DNA Repair898039598988306616FANCA16q24.3
80309611646SKIPSPHK1 interactor, AKAP domain containing2288446702290468362SPHKAP2q36
6840604126This 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, wsupervillin297462743002586410SVIL10p11.2
822153615MCP AFCPThis 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 filamencapping protein (actin filament), gelsolin-like85621871856411972CAPG2p11.2
54986FAM7C1 REC01035unc-51 like kinase 441288090420560803ULK43p22.1
89932papilin, proteoglycan-like sulfated glycoprotein737042057374134814PAPLN14q24.2
90668614716crml-1 CARMIL3 C14orf121leucine rich repeat containing 16B245212062453893714LRRC16B14q11.2
55133S1 RNA binding domain 145615819458384342SRBD12p21
5116605925KEN PCN MOPD2 PCNT2 PCNTB PCTN2 SCKL4The 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 ppericentrinReactome Event:Cell Cycle477439764786568221PCNT21q22.3
50940604961PPNAD2The 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 mechaniphosphodiesterase 11AKEGG pathway: Purine metabolism--- KEGG pathway: Morphine addiction--- Reactome Event:Hemostasis--- Reactome Event:Signal Transduction1784879771789730662PDE11A2q31.2
4926164009NUMAThis 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 acnuclear mitotic apparatus protein 1Reactome Event:Cell Cycle717139107179173211NUMA111q13
8735603487MyHC-eo MyHC-IILmyosin, heavy chain 13, skeletal muscleKEGG pathway: Tight junction--- Reactome Event:Membrane Trafficking102014011027632217MYH1317p13
54456605794CHAMP DJ402G11.8This 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)505284355060011922MOV10L122q13.33
89797607026HELAD1 RAINB1 POMFIL2 UNC53H2 STEERIN2This 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 2193722712014314711NAV211p15.1
114134611036HMITsolute carrier family 2 (facilitated glucose transporter), member 13Reactome Event:Transmembrane transport of small molecules401488234049984712SLC2A1312q12
1118600031CHI3 CHIT CHITDChitotriosidase 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 chitinase 1 (chitotriosidase)KEGG pathway: Amino sugar and nucleotide sugar metabolism2031852072031988601CHIT11q32.1
27132605689This 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 transccopine VII896421768966365416CPNE716q24.3
23389608771THRAP2 TRAP240L PROSIT240The 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 caumediator complex subunit 13-likeReactome Event:Developmental Biology11639638111671499112MED13L12q24.21
8904604205CPN1 COPN1Calcium-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 enccopine I342139533425287820CPNE120q11.22
11197605186WIF-1The 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 WNT inhibitory factor 1KEGG pathway: Wnt signaling pathway654444046551534612WIF112q14.3
9379600566This 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 isoneurexin 2KEGG pathway: Cell adhesion molecules (CAMs)643736466449066011NRXN211q13
9378600565PTHSL2 SCZD17 Hs.22998Neurexins 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. Mneurexin 1No 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 organization50145643512596742NRXN12p16.3
25777613569UNC84BSUN1 (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; Sad1 and UNC84 domain containing 2Reactome Event:Cell Cycle--- Reactome Event:Meiosis391307193916233822SUN222q13.1
1004603007CAD6 KCADThis 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 encadherin 6, type 2, K-cadherin (fetal kidney)Reactome Event:Cell-Cell communication31193762313292535CDH65p13.3
1005605806CDH7L1This 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 cadherin 7, type 2Reactome Event:Cell-Cell communication634174886354817518CDH718q22.1
1007609974This 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 conservcadherin 9, type 2 (T1-cadherin)Reactome Event:Cell-Cell communication26880709270386895CDH95p14
1016603019CDH14 CDH24 CDH14LThis 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 consecadherin 18, type 2Reactome Event:Cell-Cell communication19473140205759725CDH185p14.3
10526605600RANBP8The 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 importiimportin 8307819153084892912IPO812p11.21
10693610730Cctz2 CCTZ-2 TSA303 CCT-zeta-2 TCP-1-zeta-2This 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 chaperonin containing TCP1, subunit 6B (zeta 2)332548783330796817CCT6B17q12
10718605533HRG3 pro-NRG3This 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 respneuregulin 3No evidence available (Last evaluated (2011-12-21)--- No evidence available (Last evaluated (2011-12-21)KEGG pathway: ErbB signaling pathway836350708474693510NRG310q22-q23
1075602365JP HMS JPD PLS CPPI DPP1 DPPI PALS DPP-I PDON1The 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 produccathepsin CKEGG pathway: Lysosome--- Reactome Event:Immune System880267608807094111CTSC11q14.2
10765605393CT31 PLU1 PUT1 PLU-1 JARID1B RBBP2H1Alysine (K)-specific demethylase 5B2026965322027775491KDM5B1q32.1
10992605591Cus1 SF3b1 SAP145 SF3B145 SF3b150This 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 sitesplicing factor 3b, subunit 2, 145kDaKEGG pathway: Spliceosome--- Reactome Event:Gene Expression658192646583638211SF3B211q13.1
11107614161BCS2 PFM2The 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 51216130701218440134PRDM54q25-q26
112483611463SSAT2spermidine/spermine N1-acetyltransferase family member 2KEGG pathway: Arginine and proline metabolism--- KEGG pathway: Metabolic pathways7529552753119417SAT217p13.1
11319GCR2 HSGT1ecdysoneless homolog (Drosophila)748942827492785310ECD10q22.3
114788608399CUB and Sushi multiple domains 31132351571144492428CSMD38q23.3
116835610702C20orf60 dJ1009E24.2The 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 bheat shock 70kD protein 12B3713317373375820HSPA12B20p13
119710HEPISThis 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 chromosomechromosome 11 open reading frame 74366160433668084111C11orf7411p12
124872111730B4GALT GALGT2B4GALNT2 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 biosynthesbeta-1,4-N-acetyl-galactosaminyl transferase 2472098224724735117B4GALNT217q21.32
1373608307PHN CPSASE1The 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 mitochondrialcarbamoyl-phosphate synthase 1, mitochondrialKEGG 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:Metabolism2113424062115438312CPS12q35
137868608113ZSG1The 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 dosarcoglycan, zeta13947373150957928SGCZ8p22
138046614648HNRPCL3RALY RNA binding protein-like85095453858340798RALYL8q21.2
14603488The 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. [provangio-associated, migratory cell protein2191288522191348932AAMP2q35
140469610040myosin IIIB1710346551715116742MYO3B2q31.1-q31.2
140625608535ARPM2 ARPT2 Arp-T2 HARPM2The 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 theactin-related protein T2293804629394671ACTRT21p36.32
145581612811SALM5 FIGLER8 C14orf146leucine rich repeat and fibronectin type III domain containing 5420767644237375214LRFN514q21.1
146691615519target of myb1-like 2 (chicken)177468221787578417TOM1L217p11.2
151011611737This 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 septin 101103003721103717832SEPT102q13
151525UBOX6 WDSAM1WD repeat, sterile alpha motif and U-box domain containing 11600923041601433042WDSUB12q24.2
158038609793LERN3 LRRN6Cleucine rich repeat and Ig domain containing 227948084292129989LINGO29p21.2
1630120470CRC18 CRCR1 MRMV1 IGDCC1This 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 addeleted in colorectal carcinomaKEGG pathway: Pathways in cancer--- KEGG pathway: Axon guidance--- KEGG pathway: Colorectal cancer--- Reactome Event:Cell-Cell communication--- Reactome Event:Developmental Biology--- Reactome Event:Apoptosis498665425106227318DCC18q21.3
1676601882DFF1 ICAD DFF-45Apoptosis 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 heterDNA fragmentation factor, 45kDa, alpha polypeptideKEGG pathway: Apoptosis--- Reactome Event:Apoptosis10520588105326131DFFA1p36.3-p36.2
1737608770DLTA PDCE2 PDC-E2This 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 bdihydrolipoamide S-acetyltransferaseKEGG pathway: Glycolysis / Gluconeogenesis--- KEGG pathway: Pyruvate metabolism--- KEGG pathway: Citrate cycle (TCA cycle)--- KEGG pathway: Carbon metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism11189553811193500211DLAT11q23.1
1861605204DQ2 DYT1The 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 dystontorsin 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., writing1325752211325864419TOR1A9q34
1894600586ARHGEF31The 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 epithelial cell transforming sequence 2 oncogeneReactome Event:Signal Transduction1724684251725392643ECT23q26.1-q26.2
202559610487SLM1 SLM-1 bA535F17.1KH domain containing, RNA binding, signal transduction associated 262389865629961006KHDRBS26q11.1
2043602188SEK HEK8 TYRO1This 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 extracellulaEPH receptor A4KEGG pathway: Axon guidance2222827472224370102EPHA42q36.1
2045602190EHK3 HEK11This 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 extracellulaEPH receptor A7KEGG pathway: Axon guidance93949738941293026EPHA76q16.1
2066600543HER4 ALS19 p180erbB4This 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 dov-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4KEGG 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:Disease2122404422134038792ERBB42q33.3-q34
2184613871This 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 KEGG pathway: Tyrosine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism804452338047892415FAH15q25.1
219957OR9Q2POlfactory 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 shaolfactory receptor, family 9, subfamily Q, member 2KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction579579065795899011OR9Q211q12.1
220972613335MIR c-MIR RNF178 MARCH-VIIIMARCH8 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-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase459500334609035410MARCH810q11.21
22993SMF HMGX3This 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 31493801691494327065HMGXB35q32
2300603252FKH6 FKHL11 FREAC7This 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 eforkhead box L1866121158661530416FOXL116q24
23213610012SULF-1 HSULF-1This 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 expressionsulfatase 170378859705731478SULF18q13.1
23549611367DAP ASPEPThe 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 aminopeptidase2202381802202647302DNPEP2q35
23586609631RIGI RIG-I RLR-1DEAD 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 motiDEAD (Asp-Glu-Ala-Asp) box polypeptide 58KEGG 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--32455300325263229DDX589p12
23746604392LCA4 AIPL2Leber 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, aryl hydrocarbon receptor interacting protein-like 1Leber 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 rar6327057633857617AIPL117p13.1
23768604807This 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, Julfibronectin leucine rich transmembrane protein 2859964118609504014FLRT214q24-q32
245806609979VGL2 VITO1This 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. vestigial like 2 (Drosophila)1175867211175947286VGLL26q22.1
2483601278FSG1 FRG1AThis 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 kFSHD region gene 1Facioscapulohumeral 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 event1908619741908843604FRG14q35
2524182100SE Se2 sej SEC2 B12QTL1The 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. fucosyltransferase 2 (secretor status included)KEGG pathway: Glycosphingolipid biosynthesis - lacto and neolacto series--- KEGG pathway: Glycosphingolipid biosynthesis - globo series--- KEGG pathway: Metabolic pathways491992284920919119FUT219q13.3
253017TERL GPSN2L SRD5A2L2trans-2,3-enoyl-CoA reductase-likeReactome Event:Metabolism65142024652751964TECRL4q13.1
253935607666angiopoietin-like 510176140510178725311ANGPTL511q22.1
254050leucine rich repeat containing 4312265226612268801812LRRC4312q24.31
254170609103Fbx33 BMND12 c14_5247This 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 F-box protein 33398655773990170414FBXO3314q21.1
254827608806N-acetylated alpha-linked acidic dipeptidase-like 21745770951755234283NAALADL23q26.31
25853CT102 TCC52 WDR40A KIAA1892This 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 1234086381341267719DCAF129p13.3
25938C14orf125HEAT repeat containing 5A317609943188978814HEATR5A14q12
26053607270FBRSL2autism susceptibility candidate 2No evidence available (Last evaluated (2013-11-06)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-11-06)69063905702578857AUTS27q11.22
26054605003SSP1 SUSP1Ubiquitin-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 modificatiSUMO1/sentrin specific peptidase 676311596764279976SENP66q13-q14.3
26577607064PCPE2procollagen C-endopeptidase enhancer 21425367021426080453PCOLCE23q21-q24
2690600946GHBPThis 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. Mutationsgrowth hormone receptorKEGG 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 Transduction42423577427219805GHR5p13-p12
2784139130Heterotrimeric 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 importguanine nucleotide binding protein (G protein), beta polypeptide 3KEGG 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 6949375695656412GNB312p13
283238611698NET46SLC22A24 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 24628474126291169311SLC22A2411q12.3
283726family with sequence similarity 154, member B825551528257727115FAM154B15q25.2
284904612825TAP3The 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 secretoSEC14-like 4 (S. cerevisiae)308848773090169822SEC14L422q12.2
2917604101GLUR7 MGLU7 GPRC1G MGLUR7L-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. Theglutamate receptor, metabotropic 7KEGG pathway: Glutamatergic synapse--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction690280277832183GRM73p26.1-p25.1
2954603758MAI MAAI GSTZ1-1This 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 signiglutathione S-transferase zeta 1KEGG pathway: Tyrosine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism777872307779794014GSTZ114q24.3
305LIP2 LPC2C ANX2L3 ANX2P3annexin A2 pseudogene 3665852856658663410ANXA2P310q21.3
338785611160K6L KRT6LKeratins 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 keratin 79532152315322807712KRT7912q13.13
340745LRRC22leucine-rich repeat, immunoglobulin-like and transmembrane domains 2859802418598533910LRIT210q23.1
342574KRT25CThis 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, composekeratin 27389330603893878617KRT2717q21.2
36331472645PTaseCellular 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-phosphatainositol polyphosphate-5-phosphatase, 75kDaKEGG pathway: Metabolic pathways--- KEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Phosphatidylinositol signaling system38326369384127291INPP5B1p34
3655147556CD49f VLA-6 ITGA6BThe 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 refintegrin, alpha 6Epidermolysis 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, 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---1732919541733711812ITGA62q31.1
3704147520My049 C20orf37 dJ794I6.3 HLC14-06-PThis 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 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:Metabolism3189514320451620ITPA20p
3856148060K8 KO CK8 CK-8 CYK8 K2C8 CARD2This 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 intermediatekeratin 8532909715334365012KRT812q13
387921This 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 thNHL repeat containing 3396124483962424613NHLRC313q13.3
3884602762K33B HA3II Ha-3II KRTHA3A KRTHA3B hHa3-IIThis 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 keratin 33B395197463952605217KRT33B17q21.2
3890602766HB4 KRTHB4The 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 subfakeratin 84527715965277941712KRT8412q13
389668XRG9XK, Kell blood group complex subunit-related family, member 971581600716481778XKR98q13.3
401177uncharacterized LOC40117717379015173874195LOC4011775p15.1
445603470ASS CTLN1The 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 fargininosuccinate synthase 1Citrullinemia 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 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:Metabolism1333200941333766619ASS19q34.1
4594609058MCMThis 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 thismethylmalonyl CoA mutaseKEGG 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:Metabolism49398073494310416MUT6p12.3
4622160742MYH2B MyHC-2B MyHC-IIbmyosin, heavy chain 4, skeletal muscleKEGG pathway: Tight junction--- Reactome Event:Membrane Trafficking103466071037287617MYH417p13.1
4994OR40 OLFRA03 OR17-40 OR17-82Olfactory 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 shaolfactory receptor, family 3, subfamily A, member 1KEGG pathway: Olfactory transduction--- Reactome Event:Signal Transduction3194929319587617OR3A117p13.3
50807605953PAP PAG2 AMAP1 DDEF1 ZG14P CENTB4This 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 cytArfGAP with SH3 domain, ankyrin repeat and PH domain 1KEGG pathway: Endocytosis--- KEGG pathway: Fc gamma R-mediated phagocytosis1310643501314559068ASAP18q24.1-q24.2
5099602988BHPCDH BH-PcdhThis 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. Alteprotocadherin 730721951311484234PCDH74p15
51130605760ASB-3The 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 Bankyrin repeat and SOCS box containing 3Reactome Event:Immune System53897117540141462ASB32p16.2
51148CEECAM1 GLT25D3cerebral endothelial cell adhesion molecule1311738541311996309CERCAM9q34.11
511516062021A1 AIM1 MATP OCA4 SHEP5This 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. Msolute carrier family 45, member 233944721339847805SLC45A25p13.2
5273602058PI10 PI-10The 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 characserpin peptidase inhibitor, clade B (ovalbumin), member 10KEGG pathway: Amoebiasis615752246160294818SERPINB1018q21.3
5321600522PLA2G4 cPLA2-alphaThis 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 cellularphospholipase 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: Glutamaterg1867980321869581131PLA2G4A1q25
5334600597PLCE PLCL PRIP PLDL1phospholipase C-like 1KEGG pathway: GABAergic synapse1986694261990146082PLCL12q33
53904606808DFNB30The 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 myosinmyosin IIIAHereditary 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 e262230022650146510MYO3A10p11.1
54587matrix-remodelling associated 8128807112971831MXRA81p36.33
54758kelch domain containing 4877302398779960316KLHDC416q24.3
54869614987DRC3 EPS8R1 PP10566This 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 founEPS8-like 1555872215559929119EPS8L119q13.42
55024610292BANKThe 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 aB-cell scaffold protein with ankyrin repeats 11027117641029959694BANK14q24
55350606592HSA238982This 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 protvanin 31330439261330559046VNN36q23.2
55388609357CNA43 DNA43 PRO2249The 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 minichromosome maintenance complex component 10Reactome Event:Cell Cycle--- Reactome Event:DNA Replication132035541325310410MCM1010p13
5557176635p49The 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 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 Replication571253645714614612PRIM112q13
55614SNX23 C20orf23 KISC20ORFThe 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 16B162527421655407920KIF16B20p11.23
55627610457NET13 NSMASE3 NSMASE-3Sphingomyelinases (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:Metabolism1309089651309403232SMPD42q21.1
55681CVAK104SCY1-like 2 (S. cerevisiae)10066091810073550212SCYL212q23.1
55733605743Skn 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 acyltransferase2105015962108496381HHAT1q32
55803608635CENTA2 cent-b HSA272195ArfGAP with dual PH domains 2292486982928634017ADAP217q11.2
55968606610P47 UBX1 UBXD10 UBXN2C dJ776F14.1N-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 pNSFL1 (p97) cofactor (p47)KEGG pathway: Protein processing in endoplasmic reticulum1422807144834520NSFL1C20p13
56899607815EB1 AIDA EB-1 ANKS2 AIDA-1 cajalin-2This 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 shankyrin repeat and sterile alpha motif domain containing 1B9912856910037851212ANKS1B12q23.1
5732176804EP2This 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), 53kDaKEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction527810165279532414PTGER214q22
57475pleckstrin homology domain containing, family H (with MyTH4 domain) member 1679999166805625514PLEKHH114q24.1
57575608286PCDH19 OL-PCDHThis 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 cadhprotocadherin 101340704701341127324PCDH104q28.3
57678602395GPAT GPAT1 RP11-426E5.2This 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 reticulumglycerol-3-phosphate acyltransferase, mitochondrialKEGG pathway: Glycerolipid metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Glycerophospholipid metabolism--- Reactome Event:Metabolism11390797111397515310GPAM10q25.2
57689608817NGL1 NGL-1NGL1 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 4CKEGG pathway: Axon guidance--- KEGG pathway: Cell adhesion molecules (CAMs)401355244148118611LRRC4C11p12
577602684This 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 alsbrain-specific angiogenesis inhibitor 369345210700994036BAI36q12
5802601576PTPSIGMAThe 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 extracellulaprotein tyrosine phosphatase, receptor type, SReactome Event:Extracellular matrix organization5205514534081419PTPRS19p13.3
58515607916HSPC030 HSPC297This 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 (SECselenoprotein K53919226539259893SELK3p21.31
590177400E1 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 bebutyrylcholinesteraseReactome Event:Metabolism of proteins--- Reactome Event:Neuronal System--- Reactome Event:Metabolism1654906921655552603BCHE3q26.1-q26.2
6101603937ORP1 DCDC4AThis 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 ouretinitis pigmentosa 1 (autosomal dominant)55528627556825248RP18q12.1
63982610110DYT23 DYT24 TMEM16C C11orf25 GENX-3947anoctamin 3Reactome Event:Transmembrane transport of small molecules262104582668483611ANO311p14.2
64089614903This 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 esorting nexin 1682711816827545398SNX168q21.13
64116608732ZIP8 PP3105 BIGM103 LZT-Hs6This 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 solute carrier family 39 (zinc transporter), member 8Reactome Event:Transmembrane transport of small molecules1031721981032666554SLC39A84q22-q24
6749604328FACT T160 FACT80The 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 crucstructure specific recognition protein 1Reactome Event:Gene Expression--- Reactome Event:Disease570934595710335111SSRP111q12
6857185605P65 SYT SVP65The 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 [PubMsynaptotagmin IKEGG pathway: Synaptic vesicle cycle--- Reactome Event:Neuronal System--- Reactome Event:Disease792577737984578812SYT112cen-q21
6935189909BZP TCF8 AREB6 FECD6 NIL2A PPCD3 ZFHEP ZFHX1A DELTAEF1This 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 zinc finger E-box binding homeobox 1KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Transcriptional misregulation in cancer316078253181874210ZEB110p11.2
6999191070TO TDO TPH2 TRPOThis 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 antittryptophan 2,3-dioxygenaseKEGG pathway: Tryptophan metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism1568248451568415584TDO24q31-q32
7005603170TEF5 TEAD5 TEF-5 DTEF-1 ETFR-1 TEAD-3This 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. TranslatTEA domain family member 3KEGG pathway: Hippo signaling pathway--- Reactome Event:Gene Expression35441374354648846TEAD36p21.2
7075600222TIE JTK14This 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 inhtyrosine kinase with immunoglobulin-like and EGF-like domains 143766566437887811TIE11p34-p33
716120580This 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 deficiecomplement component 1, s subcomponentKEGG pathway: Complement and coagulation cascades--- KEGG pathway: Pertussis--- KEGG pathway: Staphylococcus aureus infection--- KEGG pathway: Systemic lupus erythematosus--- Reactome Event:Immune System7167819717833612C1S12p13
7444602169This 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 vaccinia related kinase 2Reactome Event:Cell Cycle58273777583870552VRK22p16.1
7681603856CPPB2 D15S9 RNF63 ZFP127 ZNF127The 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 ofmakorin ring finger protein 3No evidence available (Last evaluated (2013-07-09)--- No evidence available (Last evaluated (2013-07-09)238104542382076415MKRN315q11-q13
79007dysbindin (dystrobrevin binding protein 1) domain containing 1900712799008593716DBNDD116q24.3
79039611665DP97This 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,DEAD (Asp-Glu-Ala-Asp) box polypeptide 5411359497811362328412DDX5412q24.13
7915610045SSDH SSADHThis 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-aminobutyraldehyde dehydrogenase 5 family, member A1KEGG pathway: Metabolic pathways--- KEGG pathway: Alanine, aspartate and glutamate metabolism--- KEGG pathway: Butanoate metabolism--- Reactome Event:Neuronal System24495197245374356ALDH5A16p22
79722615189ankyrin repeat domain 5555395507555291865ANKRD555q11.2
79794chromosome 12 open reading frame 4911715128911717586812C12orf4912q24.22
80059610870leucine rich repeat transmembrane neuronal 476974849777495022LRRTM42p12
80201hexokinase domain containing 1KEGG 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 709800597102731510HKDC110q22.1
80731thrombospondin, type I, domain containing 7B1376397181384352872THSD7B2q22.1
8076601103MP25 MAGP2This 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 cmicrofibrillar associated protein 5Reactome Event:Extracellular matrix organization8798540881543312MFAP512p13.1-p12.3
83450leucine rich repeat containing 48178761271792020317LRRC4817p11.2
83541611393F10 C20orf55 bA371L19.3family with sequence similarity 110, member A81435482692220FAM110A20p13
83872608548ARMD1 FBLN6 FIBL6 FIBL-6This 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 ephemicentin 11857036831861600851HMCN11q25.3-q31.1
84075611779C14orf155fibrous sheath CABYR binding protein449733524497649914FSCB14q21.2
84109606925AQ27 GPR103 SP9155pyroglutamylated RFamide peptide receptorReactome Event:Signal Transduction1222497971223021814QRFPR4q27
84324610049HCC1 THO1 CIP29 HSPC316This 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 myeSAP domain containing ribonucleoprotein561462475621154012SARNP12q13.2
84529HH114chromosome 15 open reading frame 41368718123710244915C15orf4115q14
84570610004AMY CLAC CLACP CLAC-PThis 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 fibrcollagen, type XXV, alpha 1Reactome Event:Extracellular matrix organization1097318771102237994COL25A14q25
8458604718HuF2This 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-litranscription termination factor, RNA polymerase IIKEGG pathway: Thyroid hormone synthesis1176029101176454921TTF21p22
84626KRAB-A domain containing 11494120611494316647KRBA17q36
84888608238IMP3 PSL2This 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 signal peptide peptidase like 2A509997305105791015SPPL2A15q21.2
8513601980GL HGL HLALThis 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 lipase, gastricKEGG pathway: Metabolic pathways--- KEGG pathway: Fat digestion and absorption--- KEGG pathway: Glycerolipid metabolism904241469043857210LIPF10q23.31
8821607494INPP4B 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 inositol polyphosphate-4-phosphatase, type II, 105kDaKEGG pathway: Inositol phosphate metabolism--- KEGG pathway: Metabolic pathways--- KEGG pathway: Phosphatidylinositol signaling system--- Reactome Event:Metabolism1429491811437676044INPP4B4q31.21
8913604065NBR13 Cav3.1 Ca(V)T.1Voltage-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 encalcium channel, voltage-dependent, T type, alpha 1G subunitKEGG pathway: Calcium signaling pathway--- KEGG pathway: MAPK signaling pathway--- KEGG pathway: Circadian entrainment--- KEGG pathway: Type II diabetes mellitus--- Reactome Event:Developmental Biology486384294870483517CACNA1G17q22
89778EPIPIN SERPIN11serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)613701946139112318SERPINB11
89858606094S2V SLG SIGLECL1 Siglec-XIISialic 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 encsialic acid binding Ig-like lectin 12 (gene/pseudogene)519946135200504319SIGLEC1219q13.4
9026605613HIP3 HIP12 ILWEQhuntingtin interacting protein 1 relatedReactome Event:Membrane Trafficking12331904512334750812HIP1R12q24
91107611041GOA RNF100tripartite motif containing 47738702427387468317TRIM4717q25
91464612019Pix-1 RAXLXHomeobox 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 20intestine-specific homeobox354621303548338022ISX22q12.3
9442605044CRSP8 CRAP34 CRSP34 TRAP37The 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 mediator complex subunit 27Reactome Event:Gene Expression--- Reactome Event:Developmental Biology1347354971349552749MED279q34.13
9627603779Sph1 SYPH1This 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 inclusionssynuclein, alpha interacting proteinParkinsonism 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 uniformlyKEGG pathway: Parkinson's disease1216474551217997945SNCAIP5q23.2
9699606630OBOE RIM2 RAB3IP3regulating synaptic membrane exocytosis 2KEGG pathway: Insulin secretion1045124261052666568RIMS28q22.3
9764611675KIAA0513850613748512783616KIAA051316q24.1
9833607025HPK38maternal embryonic leucine zipper kinase36572859366776809MELK9p13.2
995157680CDC25 PPP1R60This 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 thoughcell division cycle 25CKEGG pathway: Cell cycle--- KEGG pathway: Progesterone-mediated oocyte maturation--- KEGG pathway: MicroRNAs in cancer--- KEGG pathway: Oocyte meiosis--- Reactome Event:Cell Cycle1376209591376740645CDC25C5q31
54462NAGcap14 FAM190B KIAA1128 bA486O22.1coiled-coil serine-rich protein 2NA 84328586 8451852110CCSER210q23.1
338557609044GT01 PGR4 BMIQ10 GPR120 GPR129 O3FAR1This 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 efree fatty acid receptor 4NA 93566204 9359007210FFAR410q23.33
25758612297G2 C11orf41 C11orf69KIAA1549-likeNANA 33376568 3367410211KIAA1549L11p13
26011610084Doc4 ODZ4 TNM4 Ten-M4teneurin transmembrane protein 4NA 78653283 7944098911TENM411q14.1
283310614925DFNB84B C12orf64The 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 functiotogelin-likeNA 80130502 8037909012OTOGL12q21.31
100505967NAlong intergenic non-protein coding RNA 645NA 27612588 2763963614LINC0064514
145508NAC14orf61 LEDP/132 C14orf145centrosomal protein 128kDaNANA 80476988 8095950114CEP12814q31.1
90417614718SKAP HSD11 C15orf23 TRAF4AF1kinetochore-localized astrin/SPAG5 binding proteinNA 40382721 4039428815KNSTRN15q15.1
547156051042BP1 FOX1 A2BP1 FOX-1 HRNBP1The 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 patRNA binding protein, fox-1 homolog (C. elegans) 1No evidence available (Last evaluated (2013-06-20)--- Little evidence for dosage pathogenicity (Last evaluated (2013-06-20)NA 5239782 771334016RBFOX116p13.3
84081616173CCDC55 NSrp70 HSPC095nuclear speckle splicing regulatory protein 1NANA 30116807 3018647517NSRP117q11.2
100505591NAleucine rich repeat containing 3CNANA 39927722 3994503417LRRC3C17q21.1
63895613629DA3 DA5 MWKS FAM38B HsT748 HsT771 FAM38B2 C18orf30 C18orf58The 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 neuropiezo-type mechanosensitive ion channel component 2NANA 10670134 1114876218PIEZO218p11.22
647946NAlong intergenic non-protein coding RNA 669NANA 39206924 3975199518LINC0066918q12.2-q12.3
9811613178Gm672 KIAA0427CTIF 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 codonsCBP80/20-dependent translation initiation factorNANA 48539056 4886321718CTIF18q21.1
29094NAGRP HSPC159lectin, galactoside-binding-likeNANA 64454193 644613832LGALSL2p14
401145NAFAM190Acoiled-coil serine-rich protein 1NANA 90127394 916022194CCSER14q22.1
101410545NASTPG2 antisense RNA 1NANA 97366926 974901644STPG2-AS14q22.3
285555NAC4orf37sperm-tail PG-rich repeat containing 2NANA 97441146 981434704STPG24q22.3-q23
728081NANCRNA00290long intergenic non-protein coding RNA 290NANA1810640891811591494LINC002904q34.3
60684614138GRY FOIGR LGMD2S C4orf41The 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 multtrafficking protein particle complex 11NANA1836592671837135944TRAPPC114q35.1
729862NAlymphocyte-specific protein 1 pseudogene 3NANA 28926870 289273135LSP1P35p13.3
133558NAHEATR7B2maestro heat-like repeat family member 2BNANA 40998020 410713425MROH2B5p13.1
9366NARAB9P1RAB9B, member RAS oncogene family pseudogene 1NANA1050994741051000985RAB9BP15q21.2
57451610119ODZ2 TNM2 TEN-M2teneurin transmembrane protein 2NANA1669790781682641575TENM25q34
157777NAC8orf45minichromosome maintenance domain containing 2NA 66870749 669263868MCMDC28q13.1
11064605496FAN CEP1 CEP110 bA165P4.1This 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 acentriolinNA1210749551211776109CNTRL9q33.2