| 732741 | PSMC5 | proteasome 26S subunit, ATPase 5 | The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. T he 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] | 17 | 63827431 | 63832019 | Human | 222 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 731589 | RPS8 | ribosomal protein S8 | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] | 1 | 44775540 | 44778779 | Human | 143 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 38644690 | LOC102723573 | 40S ribosomal protein S8-like | ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN cytoplasm (inferred); ribonucleoprotein complex (inferred); ribosome (inferred) | | | | Human | 6 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 1345119 | RPS8P1 | ribosomal protein S8 pseudogene 1 | | 14 | 105978468 | 105979169 | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, VALIDATED [RefSeq] |
| 1351567 | RPS8P3 | ribosomal protein S8 pseudogene 3 | | 18 | 51844950 | 51845634 | Human | | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 1348940 | RPS8P4 | ribosomal protein S8 pseudogene 4 | | 10 | 119638433 | 119639134 | Human | | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2305670 | RPS8P5 | ribosomal protein S8 pseudogene 5 | | 3 | 57530293 | 57530973 | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2305409 | RPS8P6 | ribosomal protein S8 pseudogene 6 | | 3 | 308717 | 309319 | Human | | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2305758 | RPS8P7 | ribosomal protein S8 pseudogene 7 | INTERACTS WITH tunicamycin | 5 | 180226333 | 180227022 | Human | 1 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2305349 | RPS8P8 | ribosomal protein S8 pseudogene 8 | INTERACTS WITH chloropicrin | 5 | 33162138 | 33162861 | Human | 1 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2305782 | RPS8P9 | ribosomal protein S8 pseudogene 9 | | 9 | 34223931 | 34224651 | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 2304990 | RPS8P10 | ribosomal protein S8 pseudogene 10 | INTERACTS WITH chloropicrin; dioxygen | 15 | 22152218 | 22152918 | Human | 3 | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 38608934 | RPS8P11 | ribosomal protein S8 pseudogene 11 | | 19 | 20080170 | 20080562 | Human | | symbol , GTEx , old_gene_name , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 16557394 | AC006539.1 | ribosomal protein S8 (RPS8) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
| 16569931 | AC135068.3 | ribosomal protein S8 (RPS8) pseudogene | ENCODES a protein that exhibits structural constituent of ribosome (inferred); INVOLVED IN translation (inferred); FOUND IN cytoplasm (inferred); ribonucleoprotein complex (inferred); ribosome (inferred) | 15 | 21709595 | 21710272 | Human | 6 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 1319779 | NDUFS8 | NADH:ubiquinone oxidoreductase core subunit S8 | This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the si x to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010] | 11 | 68030681 | 68036644 | Human | 237 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 735975 | RPS15A | ribosomal protein S15a | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] | 16 | 18781295 | 18790334 | Human | 229 | old_gene_name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 735738 | A2M | alpha-2-macroglobulin | The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutation s in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016] | 12 | 9067708 | 9116229 | Human | 359 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1603369 | ADAT3 | adenosine deaminase tRNA specific 3 | This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene , secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016] | 19 | 1905399 | 1913447 | Human | 123 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1601876 | ARMC8 | armadillo repeat containing 8 | Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 138187248 | 138298389 | Human | 92 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1603678 | LTAP1 | lipid transport auxiliary protein 1 | Involved in phagocytosis. Located in Golgi apparatus; cytosol; and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 154206720 | 154220590 | Human | 40 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1317423 | MORF4L1 | mortality factor 4 like 1 | Predicted to enable chromatin binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Located in nuclear speck. Part of NuA4 histone acetyltransferase complex; Sin3-type complex; and nucleosome. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 78872890 | 78898139 | Human | 95 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1603010 | OCEL1 | occludin/ELL domain containing 1 | Predicted to be involved in bicellular tight junction assembly. Predicted to be located in membrane. Predicted to be active in apical plasma membrane; bicellular tight junction; and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 17226226 | 17229219 | Human | 55 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 2305122 | RPL13AP25 | ribosomal protein L13a pseudogene 25 | INTERACTS WITH aristolochic acid A | 13 | 54440678 | 54441337 | Human | 1 | old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 737323 | ACE | angiotensin I converting enzyme | This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fl uid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020] | 17 | 63477061 | 63498373 | Human | 1113 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732730 | ADCYAP1 | adenylate cyclase activating polypeptide 1 | This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediat ors of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] | 18 | 904411 | 912172 | Human | 214 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735600 | ADORA3 | adenosine A3 receptor | This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014] | 1 | 111499429 | 111503633 | Human | 137 | UniProt , old_protein_id , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731514 | AFDN | afadin, adherens junction formation factor | This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternative ly spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] | 6 | 167826564 | 167972023 | Human | 178 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320096 | AGA | aspartylglucosaminidase | This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoprotei ns. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015] | 4 | 177430774 | 177442437 | Human | 770 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320055 | ANK1 | ankyrin 1 | Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with d ifferent affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008] | 8 | 41653225 | 41896741 | Human | 557 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737460 | APOD | apolipoprotein D | This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocali ns. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] | 3 | 195568705 | 195583940 | Human | 218 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1321637 | APOH | apolipoprotein H | Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a requir ed cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019] | 17 | 66212033 | 66229415 | Human | 173 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735625 | ASCL2 | achaete-scute family bHLH transcription factor 2 | This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] | 11 | 2268498 | 2270588 | Human | 124 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1323751 | ASPH | aspartate beta-hydroxylase | This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] | 8 | 61500556 | 61714592 | Human | 375 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353040 | ATP5F1D | ATP synthase F1 subunit delta | This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble cata lytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] | 19 | 1241751 | 1244825 | Human | 233 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344585 | ATXN1 | ataxin 1 | The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous , with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017] | 6 | 16299112 | 16761460 | Human | 324 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735892 | B2M | beta-2-microglobulin | This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The enc oded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014] | 15 | 44711517 | 44718145 | Human | 493 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1354479 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthes is of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] | 17 | 49120344 | 49176840 | Human | 61 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1319642 | BCL6 | BCL6 transcription repressor | The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact w ith a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015] | 3 | 187721377 | 187745468 | Human | 360 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316833 | BLOC1S1 | biogenesis of lysosomal organelles complex 1 subunit 1 | BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplie d by OMIM, Mar 2008] | 12 | 55716046 | 55719703 | Human | 102 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1314330 | BMP5 | bone morphogenetic protein 5 | This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016] | 6 | 55753653 | 55875590 | Human | 184 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350864 | C4A | complement C4A (Chido/Rodgers blood group) | This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction b etween the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] | 6 | 31982057 | 32002681 | Human | 282 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320302 | CA1 | carbonic anhydrase 1 | Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrosp inal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016] | 8 | 85327608 | 85378113 | Human | 188 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 10291 | CASR | calcium sensing receptor | The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and th us this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017] | 3 | 122183668 | 122291629 | Human | 1154 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735784 | CCL3 | C-C motif chemokine ligand 3 | This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibi lity to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010] | 17 | 36088256 | 36090143 | Human | 625 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737036 | CD44 | CD44 molecule (IN blood group) | The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein part icipates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008] | 11 | 35139171 | 35232402 | Human | 638 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350853 | CECR7 | cat eye syndrome chromosome region, candidate 7 | INTERACTS WITH acrylamide; aflatoxin B1; benzo[a]pyrene | 22 | 17036570 | 17060070 | Human | 13 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 619566 | CFTR | CF transmembrane conductance regulator | This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017] | 7 | 117480025 | 117668665 | Human | 3519 | UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349143 | CGB1 | chorionic gonadotropin subunit beta 1 | The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] | 19 | 49035569 | 49036895 | Human | 30 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736095 | CLCNKB | chloride voltage-gated channel Kb | The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] | 1 | 16043782 | 16057326 | Human | 281 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731921 | CNN1 | calponin 1 | Predicted to enable actin filament binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 11538851 | 11550323 | Human | 177 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 731963 | CNN3 | calponin 3 | This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involve d in contraction. [provided by RefSeq, Jul 2008] | 1 | 94896957 | 94927110 | Human | 153 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 736850 | COX6C | cytochrome c oxidase subunit 6C | Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear gen es. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010] | 8 | 99877865 | 99893707 | Human | 138 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1603324 | CRISP1 | cysteine rich secretory protein 1 | Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membra nes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] | 6 | 49834257 | 49877096 | Human | 49 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1318112 | CTRC | chymotrypsin C | This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2 008] | 1 | 15438443 | 15449242 | Human | 170 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1606587 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyz es the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016] | 15 | 51208057 | 51338596 | Human | 981 | old_protein_id , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347954 | CYP2G1P | cytochrome P450 family 2 subfamily G member 1, pseudogene | Predicted to enable several functions, including heme binding activity; iron ion binding activity; and monooxygenase activity. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 40890826 | 40900508 | Human | 47 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1342578 | CYP2G2P | cytochrome P450 family 2 subfamily G member 2, pseudogene | | 19 | 41050452 | 41062444 | Human | | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 731288 | DCC | DCC netrin 1 receptor | This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal ad hesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009] | 18 | 52340197 | 53535899 | Human | 325 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736976 | DMD | dystrophin | This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016] | X | 31119222 | 33339388 | Human | 3667 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320371 | DMPK | DM1 protein kinase | The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated r egion of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016] | 19 | 45769717 | 45782490 | Human | 205 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352320 | DPH1 | diphthamide biosynthesis 1 | The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been asso ciated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016] | 17 | 2030112 | 2043898 | Human | 153 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736138 | DRD4 | dopamine receptor D4 | This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, includi ng autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008] | 11 | 637269 | 640706 | Human | 389 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348525 | DUSP4 | dual specificity phosphatase 4 | The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008] | 8 | 29333064 | 29350684 | Human | 226 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737537 | EDNRA | endothelin receptor type A | This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this g ene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] | 4 | 147481097 | 147544954 | Human | 562 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1322866 | EEF1B2 | eukaryotic translation elongation factor 1 beta 2 | This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008] | 2 | 206159609 | 206162928 | Human | 143 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348469 | ERG | ETS transcription factor ERG | This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is m ainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014] | 21 | 38367261 | 38661783 | Human | 143 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736559 | ESR1 | estrogen receptor 1 | This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to t he nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020] | 6 | 151656672 | 152129619 | Human | 2461 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737031 | ETS1 | ETS proto-oncogene 1, transcription factor | This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerou s genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] | 11 | 128458765 | 128587558 | Human | 355 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316345 | EWSR1 | EWS RNA binding protein 1 | This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocation s between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009] | 22 | 29268268 | 29300521 | Human | 186 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347691 | FASN | fatty acid synthase | The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008] | 17 | 82078338 | 82098236 | Human | 3233 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344251 | FCAR | Fc alpha receptor | This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic respo nses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] | 19 | 54874235 | 54891420 | Human | 61 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1354370 | FCER2 | Fc epsilon receptor II | The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth fa ctor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] | 19 | 7688776 | 7702131 | Human | 101 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737209 | FGA | fibrinogen alpha chain | This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disord ers, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016] | 4 | 154583126 | 154590742 | Human | 523 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 70822 | FGF2 | fibroblast growth factor 2 | The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound heali ng, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008] | 4 | 122826682 | 122898236 | Human | 749 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 69203 | FGF7 | fibroblast growth factor 7 | The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008] | 15 | 49423242 | 49488775 | Human | 234 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736865 | FGFR2 | fibroblast growth factor receptor 2 | The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length represen tative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] | 10 | 121478330 | 121598458 | Human | 2017 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732651 | GABRA6 | gamma-aminobutyric acid type A receptor subunit alpha6 | GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] | 5 | 161685721 | 161702592 | Human | 122 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733632 | GABRG3 | gamma-aminobutyric acid type A receptor subunit gamma3 | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines tha t bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012] | 15 | 26971181 | 27541984 | Human | 95 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736264 | GALNT1 | polypeptide N-acetylgalactosaminyltransferase 1 | This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008] | 18 | 35580922 | 35711834 | Human | 128 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732555 | GJB1 | gap junction protein beta 1 | This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino a cid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] | X | 71215239 | 71225516 | Human | 1022 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350387 | GLO1 | glyoxalase I | The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008] | 6 | 38675925 | 38703145 | Human | 241 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 5133496 | GUSBP11 | GUSB pseudogene 11 | This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, beta, and the 3' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011] | 22 | 23638487 | 23717423 | Human | 19 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1350340 | HABP2 | hyaluronan binding protein 2 | This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extrace llular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] | 10 | 113550831 | 113589602 | Human | 136 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736606 | HBB | hemoglobin subunit beta | The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thal assemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] | 11 | 5225464 | 5227071 | Human | 1792 | UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352836 | HLA-B | major histocompatibility complex, class I, B | HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] | 6 | 31353875 | 31357179 | Human | 573 | UniProt , old_protein_id , GenBank Protein , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1353906 | HLA-DQB1 | major histocompatibility complex, class II, DQ beta 1 | HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mole cules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] | 6 | 32659467 | 32666657 | Human | 709 | UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344093 | HLA-DRA | major histocompatibility complex, class II, DR alpha | HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocyt es/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020] | 6 | 32439887 | 32445046 | Human | 273 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348360 | HOXC6 | homeobox C6 | This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on diffe rent chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008] | 12 | 54016888 | 54030823 | Human | 84 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737468 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. Th e type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010] | 16 | 67429801 | 67437553 | Human | 457 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352915 | HSD3BP1 | hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 | | 1 | 119467133 | 119474099 | Human | | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 1343430 | HSD3BP2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 | | 1 | 119438528 | 119446506 | Human | | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 1350891 | HSD3BP4 | hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 | | 1 | 119563880 | 119572576 | Human | | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 731037 | HTR3A | 5-hydroxytryptamine receptor 3A | The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing re sponses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] | 11 | 113975108 | 113990313 | Human | 214 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 69659 | ICAM1 | intercellular adhesion molecule 1 | This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] | 19 | 10271120 | 10286615 | Human | 1441 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347080 | IER3 | immediate early response 3 | This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008] | 6 | 30743199 | 30744547 | Human | 391 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 70506 | IGF1 | insulin like growth factor 1 | The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of in sulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015] | 12 | 102395874 | 102481839 | Human | 1422 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 68997 | IGF1R | insulin like growth factor 1 receptor | This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant ti ssues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] | 15 | 98648539 | 98964530 | Human | 936 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732660 | IGF2R | insulin like growth factor 2 receptor | This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of tran sforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015] | 6 | 159969082 | 160111504 | Human | 380 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1345718 | IKZF1 | IKAROS family zinc finger 1 | This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014] | 7 | 50303455 | 50405101 | Human | 308 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737535 | IL15 | interleukin 15 | The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus nega tively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011] | 4 | 141636583 | 141733987 | Human | 298 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351288 | IL16 | interleukin 16 | The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] | 15 | 81182712 | 81314058 | Human | 189 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735430 | IL1R1 | interleukin 1 receptor type 1 | This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory respons es. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013] | 2 | 102070390 | 102179874 | Human | 427 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 730858 | IL2 | interleukin 2 | This gene is a member of the interleukin 2 (IL2) cytokine subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin, and thrombopoietin. The protein encoded by this gene is a secreted cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is important for the proliferation of T an d B lymphocytes. The receptor of this cytokine (IL2R) is a heterotrimeric protein complex whose gamma chain is also shared by IL4 and IL7. The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Sep 2020] | 4 | 122451470 | 122456725 | Human | 907 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731409 | IL6ST | interleukin 6 cytokine family signal transducer | The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this pro tein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014] | 5 | 55935095 | 55994963 | Human | 524 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733473 | IRS1 | insulin receptor substrate 1 | This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] | 2 | 226731312 | 226799820 | Human | 650 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1313694 | ITGB2 | integrin subunit beta 2 | This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important ro le in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] | 21 | 44885953 | 44928815 | Human | 514 | UniProt , old_protein_id , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1343409 | ITGB7 | integrin subunit beta 7 | This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encode d protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] | 12 | 53191323 | 53207251 | Human | 143 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732978 | ITPR1 | inositol 1,4,5-trisphosphate receptor type 1 | This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneo us group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] | 3 | 4493348 | 4847506 | Human | 850 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316929 | KEL | Kell metallo-endopeptidase (Kell blood group) | This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members o f the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] | 7 | 142941114 | 142962363 | Human | 81 | UniProt , old_protein_id , GenBank Protein , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 737118 | KITLG | KIT ligand | This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 12 | 88492793 | 88580471 | Human | 411 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348365 | KLF10 | KLF transcription factor 10 | This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] | 8 | 102648784 | 102655725 | Human | 240 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343198 | KLK3 | kallikrein related peptidase 3 | Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The gene is one of the fifteen kallikrein subfamily members lo cated in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019] | 19 | 50854915 | 50860764 | Human | 263 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347719 | KMT2A | lysine methyltransferase 2A | This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] | 11 | 118436492 | 118526832 | Human | 556 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353171 | KRT17 | keratin 17 | This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008] | 17 | 41619442 | 41624575 | Human | 280 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736635 | LSS | lanosterol synthase | The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in mul tiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] | 21 | 46188446 | 46228774 | Human | 452 | array_id_affy_hugenefl_ensembl , UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 68549 | LTBP2 | latent transforming growth factor beta binding protein 2 | The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarit y to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008] | 14 | 74498183 | 74612237 | Human | 425 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735751 | MAOA | monoamine oxidase A | This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] | X | 43655006 | 43746817 | Human | 489 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353967 | MBOAT7 | membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the r eacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] | 19 | 54173415 | 54189580 | Human | 156 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1322216 | MECOM | MDS1 and EVI1 complex locus | The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo transl ocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] | 3 | 169083507 | 169663712 | Human | 337 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737363 | MGAT5 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011] | 2 | 134119935 | 134454621 | Human | 124 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348437 | MMP9 | matrix metallopeptidase 9 | Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secrete d as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] | 20 | 46008908 | 46016561 | Human | 2164 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737252 | MUC1 | mucin 1, cell surface associated | This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the a pical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] | 1 | 155185824 | 155192915 | Human | 345 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347084 | MUC5B | mucin 5B, oligomeric mucus/gel-forming | This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung m ucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010] | 11 | 1223066 | 1262172 | Human | 160 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1314284 | MYBPC3 | myosin binding protein C3 | MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Muta tions in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022] | 11 | 47331406 | 47352702 | Human | 7497 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1321111 | NCOR2 | nuclear receptor corepressor 2 | This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes h istone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] | 12 | 124324415 | 124567612 | Human | 293 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316117 | NDUFB9 | NADH:ubiquinone oxidoreductase subunit B9 | The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to sh uttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] | 8 | 124539123 | 124549979 | Human | 140 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1312823 | NET1 | neuroepithelial cell transforming 1 | This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] | 10 | 5412557 | 5459056 | Human | 156 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735618 | NOS3 | nitric oxide synthase 3 | Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016] | 7 | 150991017 | 151014588 | Human | 1490 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735682 | NPM1 | nucleophosmin 1 | The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucl eus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017] | 5 | 171387116 | 171410900 | Human | 607 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348747 | NR4A3 | nuclear receptor subfamily 4 group A member 3 | This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the re sult of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] | 9 | 99821885 | 99866891 | Human | 348 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1345014 | NR6A1 | nuclear receptor subfamily 6 group A member 1 | This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013] | 9 | 124517275 | 124771311 | Human | 108 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351065 | OPRPN | opiorphin prepropeptide | This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opi orphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] | 4 | 70397940 | 70410195 | Human | 30 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736104 | P2RY1 | purinergic receptor P2Y1 | The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular AT P and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008] | 3 | 152835131 | 152841439 | Human | 230 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349260 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzy me that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009] | 17 | 2593183 | 2685615 | Human | 503 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350191 | PAFAH1B1P2 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 2 | | 2 | 111383527 | 111385143 | Human | | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 735410 | PAH | phenylalanine hydroxylase | This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autos omal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017] | 12 | 102836889 | 102958441 | Human | 1046 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351352 | PAX3 | paired box 3 | This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndr ome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008] | 2 | 222199887 | 222298998 | Human | 446 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736556 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] | X | 19343927 | 19361718 | Human | 452 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353723 | PGK1 | phosphoglycerate kinase 1 | The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by f unctioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014] | X | 78104248 | 78129295 | Human | 428 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736948 | PHB1 | prohibitin 1 | This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] | 17 | 49404052 | 49414882 | Human | 344 | array_id_affy_hugenefl_ensembl , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 730819 | POU3F1 | POU class 3 homeobox 1 | Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of DNA-templated transcription; and positive regulation of gene expression. Predicted to act upstream of or within keratinocyte d ifferentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025] | 1 | 38043829 | 38046793 | Human | 149 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1350605 | POU5F1 | POU class 5 homeobox 1 | This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma g ene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013] | 6 | 31164337 | 31170682 | Human | 438 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731572 | PPM1A | protein phosphatase, Mg2+/Mn2+ dependent 1A | The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases . It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] | 14 | 60245750 | 60299087 | Human | 193 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344983 | PRB2 | proline rich protein BstNI subfamily 2 | This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variation s in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023] | 12 | 11391540 | 11395567 | Human | 7 | array_id_affy_hugenefl_ensembl , old_array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352111 | PRB4 | proline rich protein BstNI subfamily 4 | This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variation s in the length of the tandem repeats have been identified. The reference genome encodes the "Small" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015] | 12 | 11307077 | 11310436 | Human | 7 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737306 | PRNP | prion protein (Kanno blood group) | The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upst ream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] | 20 | 4686456 | 4701588 | Human | 777 | GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1342781 | PROS1 | protein S | This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015] | 3 | 93873051 | 93973896 | Human | 508 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1317125 | RAB5IF | RAB5 interacting factor | Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Jul 2025] | 20 | 36605779 | 36612557 | Human | 76 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 737497 | RARB | retinoic acid receptor beta | This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014] | 3 | 24829321 | 25597932 | Human | 408 | array_id_affy_hugenefl_ensembl , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1319432 | RARS1 | arginyl-tRNA synthetase 1 | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008] | 5 | 168486471 | 168519301 | Human | 204 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731712 | RB1 | RB transcriptional corepressor 1 | The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcripti on factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] | 13 | 48303751 | 48481890 | Human | 5105 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735296 | RET | ret proto-oncogene | This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream sign aling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017] | 10 | 43077069 | 43130351 | Human | 2752 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731598 | RHAG | Rh associated glycoprotein | The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009] | 6 | 49605175 | 49636839 | Human | 121 | UniProt , old_protein_id , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736735 | RHD | Rh blood group D antigen | The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD p rotein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 25272486 | 25330445 | Human | 92 | UniProt , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731395 | RHO | rhodopsin | The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindn ess. [provided by RefSeq, Aug 2017] | 3 | 129528639 | 129535344 | Human | 817 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344895 | RLN1 | relaxin 1 | Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain poly peptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013] | 9 | 5334930 | 5340916 | Human | 65 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348053 | RLN2 | relaxin 2 | This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016] | 9 | 5299864 | 5339326 | Human | 50 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351005 | RND3 | Rho family GTPase 3 | This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] | 2 | 150468193 | 150487695 | Human | 223 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1350261 | RUNX1T1 | RUNX1 partner transcriptional co-repressor 1 | This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myelo id leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] | 8 | 91954967 | 92103385 | Human | 154 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1321093 | S100A7 | S100 calcium binding protein A7 | The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progressi on and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014] | 1 | 153457744 | 153460651 | Human | 77 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732165 | SCN4A | sodium voltage-gated channel alpha subunit 4 | Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one m ember of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] | 17 | 63938554 | 63972918 | Human | 1335 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732300 | SLC1A2 | solute carrier family 1 member 2 | This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper syn aptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017] | 11 | 35251205 | 35420507 | Human | 547 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 734004 | SLC6A7 | solute carrier family 6 member 7 | This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic proper ties, and ionic requirements. [provided by RefSeq, Jul 2008] | 5 | 150190062 | 150211063 | Human | 82 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 730959 | SLC9A2 | solute carrier family 9 member A2 | This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical mem brane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016] | 2 | 102619553 | 102711355 | Human | 106 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 730978 | SLC9A3 | solute carrier family 9 member A3 | The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016] | 5 | 470456 | 524449 | Human | 251 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316039 | SNTA1 | syntrophin alpha 1 | Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophi n protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] | 20 | 33407957 | 33443763 | Human | 645 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1603322 | SOX5 | SRY-box transcription factor 5 | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. T he encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] | 12 | 23529504 | 24562650 | Human | 268 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316057 | SPAG8 | sperm associated antigen 8 | The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identif ication and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012] | 9 | 35807785 | 35812262 | Human | 64 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1313077 | SPTA1 | spectrin alpha, erythrocytic 1 | This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spect rin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017] | 1 | 158610704 | 158686715 | Human | 602 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733583 | SRPX | sushi repeat containing protein X-linked | Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025] | X | 38149339 | 38220871 | Human | 131 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1345829 | SSX3 | SSX family member 3 | The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially us eful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013] | X | 48346427 | 48356703 | Human | 20 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1323217 | STAT2 | signal transducer and activator of transcription 2 | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription ac tivators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020] | 12 | 56341597 | 56360107 | Human | 320 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 69000 | STMN2 | stathmin 2 | This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this ge ne have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010] | 8 | 79611117 | 79666158 | Human | 161 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735809 | STS | steroid sulfatase | This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associat ed with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016] | X | 7147290 | 7354641 | Human | 269 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736160 | SYK | spleen associated tyrosine kinase | This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differenti ation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] | 9 | 90801600 | 90898549 | Human | 451 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1322243 | TBX2 | T-box transcription factor 2 | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence si milarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008] | 17 | 61399843 | 61409466 | Human | 291 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 735819 | TG | thyroglobulin | Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] | 8 | 132866958 | 133134899 | Human | 375 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732487 | TGM2 | transglutaminase 2 | Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 20 | 38127385 | 38168475 | Human | 426 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 734423 | THRB | thyroid hormone receptor beta | The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] | 3 | 24117153 | 24495708 | Human | 593 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 70502 | TP53 | tumor protein p53 | This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or ch anges in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016] | 17 | 7668421 | 7687490 | Human | 8246 | UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1315573 | TPD52 | tumor protein D52 | Enables calcium ion binding activity and protein homodimerization activity. Involved in B cell differentiation. Located in endoplasmic reticulum and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 80031082 | 80171564 | Human | 171 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 736193 | TSC2 | TSC complex subunit 2 | This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signa ling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] | 16 | 2047985 | 2089491 | Human | 4248 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737021 | TSHR | thyroid stimulating hormone receptor | The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Thr ee transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] | 14 | 80955621 | 81146306 | Human | 302 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737331 | TTR | transthyretin | This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017] | 18 | 31591877 | 31598821 | Human | 1376 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350715 | UBE2L2 | ubiquitin conjugating enzyme E2 L2 (pseudogene) | | 12 | 20449438 | 20450122 | Human | | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 1318085 | UBE2L3 | ubiquitin conjugating enzyme E2 L3 | The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein liga ses (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] | 22 | 21549447 | 21624034 | Human | 204 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351542 | UGT2B7 | UDP glucuronosyltransferase family 2 member B7 | The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3 ,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] | 4 | 69051375 | 69112987 | Human | 312 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 731072 | VEGFA | vascular endothelial growth factor A | This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis . Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020] | 6 | 43770211 | 43786487 | Human | 2294 | UniProt , old_protein_id , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1317961 | WARS1 | tryptophanyl-tRNA synthetase 1 | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 14 | 100333790 | 100376327 | Human | 302 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1318735 | XPA | XPA, DNA damage recognition and repair factor | This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein inte racts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017] | 9 | 97654398 | 97697340 | Human | 362 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732225 | YIF1A | Yip1 interacting factor homolog A, membrane trafficking protein | Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 66284580 | 66289143 | Human | 97 | array_id_affy_hugenefl_ensembl , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 737555 | YWHAH | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta | This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009] | 22 | 31944535 | 31957603 | Human | 240 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736608 | POLB | DNA polymerase beta | The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011] | 8 | 42338494 | 42371808 | Human | 235 | array_id_affy_hugenefl_ensembl | gene, protein-coding, REVIEWED [RefSeq] |
| 1352288 | RPL7L1 | ribosomal protein L7 like 1 | Enables RNA binding activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 42879616 | 42889900 | Human | 75 | array_id_affy_hugenefl_ensembl | gene, protein-coding, VALIDATED [RefSeq] |
| 7205237 | TGIF2-RAB5IF | TGIF2-RAB5IF readthrough | This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene p roduct. [provided by RefSeq, Dec 2010] | 20 | 36574515 | 36612557 | Human | 17 | array_id_affy_hugenefl_ensembl | gene, protein-coding, VALIDATED [RefSeq] |
| 1354198 | LIFR | LIF receptor subunit alpha | This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differen tiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018] | 5 | 38474668 | 38608403 | Human | 491 | array_id_affy_hugenefl_ensembl | gene, protein-coding, REVIEWED [RefSeq] |
| 1343303 | SSX2 | SSX family member 2 | The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially us eful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] | X | 52696896 | 52707227 | Human | 25 | array_id_affy_hugenefl_ensembl | gene, protein-coding, REVIEWED [RefSeq] |
| 1626582 | SSX2B | SSX family member 2B | The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially us eful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] | X | 52751252 | 52761536 | Human | 14 | array_id_affy_hugenefl_ensembl | gene, protein-coding, VALIDATED [RefSeq] |
| 1606578 | SSX5 | SSX family member 5 | The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially us eful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013] | X | 48186220 | 48196795 | Human | 13 | array_id_affy_hugenefl_ensembl | gene, protein-coding, REVIEWED [RefSeq] |
| 736575 | ADD2 | adducin 2 | Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell -cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] | 2 | 70656784 | 70768200 | Human | 128 | array_id_affy_hugenefl_ensembl | gene, protein-coding, REVIEWED [RefSeq] |
| 7768366 | LINC01152 | long intergenic non-protein coding RNA 1152 | INTERACTS WITH aflatoxin B1; malathion; okadaic acid | 17 | 72030654 | 72041297 | Human | 4 | array_id_affy_hugenefl_ensembl | gene, ncrna, VALIDATED [RefSeq] |
