| 736627 | FN1 | fibronectin 1 | This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhes ion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016] | 2 | 215360865 | 215436068 | Human | 1217 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1350348 | FN3K | fructosamine 3 kinase | A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines whic h may result in deglycation. [provided by RefSeq, Feb 2012] | 17 | 82735615 | 82751196 | Human | 128 | symbol , old_gene_name , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 730816 | FNTA | farnesyltransferase, CAAX box, subunit alpha | Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010] | 8 | 43056323 | 43085785 | Human | 145 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 736901 | FNTB | farnesyltransferase, CAAX box, subunit beta | Enables acetyltransferase activator activity; enzyme binding activity; and zinc ion binding activity. Contributes to protein farnesyltransferase activity. Involved in protein farnesylation and regulation of microtubule-based movement. Part of microtubule associated complex and protein farnesyltransf erase complex. Implicated in anxiety disorder. [provided by Alliance of Genome Resources, Jul 2025] | 14 | 64986895 | 65062650 | Human | 115 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1350700 | FNBP1 | formin binding protein 1 | The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008] | 9 | 129887187 | 130053879 | Human | 142 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1319467 | FNBP4 | formin binding protein 4 | This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017] | 11 | 47716494 | 47767341 | Human | 103 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1321663 | FNDC1 | fibronectin type III domain containing 1 | Predicted to act upstream of or within several processes, including cellular response to hypoxia; positive regulation of cardiac muscle cell apoptotic process; and positive regulation of protein phosphorylation. Predicted to be located in cell-cell junction; mitochondrial membrane; and plasma membra ne. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 159169400 | 159272108 | Human | 100 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1345842 | FNDC4 | fibronectin type III domain containing 4 | Involved in response to transforming growth factor beta. Predicted to be located in endoplasmic reticulum; extracellular space; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 27491883 | 27495200 | Human | 92 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1348160 | FNDC5 | fibronectin type III domain containing 5 | This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organis ms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] | 1 | 32862268 | 32872484 | Human | 144 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1604516 | FNDC7 | fibronectin type III domain containing 7 | Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 108712908 | 108742749 | Human | 31 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1603304 | FNDC8 | fibronectin type III domain containing 8 | Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 35121615 | 35130732 | Human | 21 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1606861 | FNDC9 | fibronectin type III domain containing 9 | Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 157341598 | 157345677 | Human | 19 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1606476 | FNIP1 | folliculin interacting protein 1 | This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism and nutrient sensing by modulating the AMPK and target of rapamycin signaling pathways. This gene ha s a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017] | 5 | 131641714 | 131797017 | Human | 157 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 2292121 | FNIP2 | folliculin interacting protein 2 | This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in reg ulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017] | 4 | 158769026 | 158908050 | Human | 122 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 38605219 | FN1-DT | FN1 divergent transcript | | 2 | 215435691 | 215438945 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 1606224 | FN3KRP | fructosamine 3 kinase related protein | A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines com pared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] | 17 | 82716706 | 82728013 | Human | 74 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1346897 | FNBP1L | formin binding protein 1 like | The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] | 1 | 93448118 | 93554661 | Human | 143 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 6480141 | FNDC10 | fibronectin type III domain containing 10 | Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 1598012 | 1600135 | Human | 36 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1601971 | FNDC11 | fibronectin type III domain containing 11 | INTERACTS WITH 17beta-estradiol; acrylamide; arsenite(3-) | 20 | 63553020 | 63556708 | Human | 36 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1354235 | FNDC3A | fibronectin type III domain containing 3A | Enables RNA binding activity. Predicted to be involved in spermatid development. Predicted to act upstream of or within Sertoli cell development; cell-cell adhesion; and fertilization. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025] | 13 | 48975291 | 49209779 | Human | 99 | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1343110 | FNDC3B | fibronectin type III domain containing 3B | Enables RNA binding activity. Predicted to act upstream of or within several processes, including negative regulation of osteoblast differentiation; substrate adhesion-dependent cell spreading; and type II pneumocyte differentiation. Predicted to be located in endoplasmic reticulum. [provided by All iance of Genome Resources, Jul 2025] | 3 | 172039578 | 172401669 | Human | 157 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1350008 | FNTAP1 | farnesyltransferase, CAAX box, alpha pseudogene 1 | | 11 | 86195131 | 86196771 | Human | | symbol , GTEx , COSMIC , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 1348177 | FNTAP2 | farnesyltransferase, CAAX box, alpha pseudogene 2 | | 13 | 21530686 | 21531834 | Human | | symbol , COSMIC , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 7174910 | FNBP1P1 | formin binding protein 1 pseudogene 1 | ASSOCIATED WITH anthracosis; INTERACTS WITH aristolochic acid A; GSK-J4 | 2 | 74120519 | 74121816 | Human | 3 | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 7174903 | FNBP1P2 | formin binding protein 1 pseudogene 2 | | 3 | 30808678 | 30809696 | Human | | symbol , GTEx , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 4889207 | FNDC3CP | fibronectin type III domain containing 3C, pseudogene | | X | 78165696 | 78170137 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 38627293 | FNDC1-AS1 | FNDC1 antisense RNA 1 | | 6 | 159165899 | 159170007 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 6481027 | FNDC1-IT1 | FNDC1 intronic transcript 1 | | 6 | 159240752 | 159243329 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 5507996 | CHURC1-FNTB | CHURC1-FNTB readthrough | This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] | 14 | 64914361 | 65062655 | Human | 43 | symbol , ensembl_gene_symbol , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1352384 | ALX3 | ALX homeobox 3 | This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Ju l 2008] | 1 | 110059870 | 110070672 | Human | 182 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1350781 | PLK3 | polo like kinase 3 | The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cel lular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015] | 1 | 44800377 | 44805990 | Human | 284 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1601987 | SMCO4 | single-pass membrane protein with coiled-coil domains 4 | Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 93478472 | 93553979 | Human | 68 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 732877 | ALX1 | ALX homeobox 1 | The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] | 12 | 85280220 | 85301784 | Human | 201 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1320963 | ALX4 | ALX homeobox 4 | This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bon es. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] | 11 | 44260440 | 44310139 | Human | 299 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1351478 | ITGA5 | integrin subunit alpha 5 | The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light a nd heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015] | 12 | 54395261 | 54419266 | Human | 318 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736631 | ITGB1 | integrin subunit beta 1 | Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissu e repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 10 | 32900318 | 32958230 | Human | 710 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1343569 | TNFRSF12A | TNF receptor superfamily member 12A | Involved in positive regulation of extrinsic apoptotic signaling pathway and regulation of wound healing. Predicted to be located in cell surface and ruffle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025] | 16 | 3020368 | 3022383 | Human | 320 | old_gene_name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 731289 | ADRB1 | adrenoceptor beta 1 | The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are pred ominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019] | 10 | 114043866 | 114046904 | Human | 422 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 731061 | BHLHE41 | basic helix-loop-helix family member e41 | This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014] | 12 | 26120030 | 26125037 | Human | 195 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1353681 | DIPK1C | divergent protein kinase domain 1C | This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] | 18 | 74434775 | 74464648 | Human | 51 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1349896 | IL20RB | interleukin 20 receptor subunit beta | IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009] | 3 | 136957983 | 137011085 | Human | 120 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1352514 | ITGB1P1 | integrin subunit beta 1 pseudogene 1 | INTERACTS WITH lead diacetate | 19 | 14622221 | 14623288 | Human | 1 | old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 1347629 | NPSR1 | neuropeptide S receptor 1 | This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respirator y epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] | 7 | 34658218 | 34878332 | Human | 72 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1322844 | PRPF40A | pre-mRNA processing factor 40A | Enables RNA binding activity. Involved in several processes, including cytoskeleton organization; regulation of cell shape; and regulation of cytokinesis. Located in nuclear matrix and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 152651732 | 152718019 | Human | 116 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1603684 | SRGAP2 | SLIT-ROBO Rho GTPase activating protein 2 | This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus its elf is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014] | 1 | 206203541 | 206464436 | Human | 155 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1318420 | ATAD1 | ATPase family AAA domain containing 1 | Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 87751512 | 87841361 | Human | 159 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1345926 | KRT16 | keratin 16 | The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins whi ch are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] | 17 | 41609778 | 41612767 | Human | 210 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1349875 | MKRN3-AS1 | MKRN3 antisense RNA 1 | ASSOCIATED WITH Abdominal obesity; Acromicria; Adrenal insufficiency | | | | Human | 95 | old_gene_symbol | gene, ncrna |
| 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 | GenBank Protein , GenBank Nucleotide , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1601722 | MDP1 | magnesium dependent phosphatase 1 | Predicted to enable acid phosphatase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Apr 2025] | 14 | 24213943 | 24216066 | Human | 55 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1344610 | TRPV3 | transient receptor potential cation channel subfamily V member 3 | This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at d istinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] | 17 | 3510502 | 3557812 | Human | 221 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1349444 | HLA-A | major histocompatibility complex, class I, A | HLA-A 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 so that they can be recognized by cytotoxic T cells. 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, exons 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. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] | 6 | 29942532 | 29945870 | Human | 301 | UniProt , GenBank Protein , 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 | 574 | UniProt , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347386 | HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mol ecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one 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 DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] | 6 | 33075990 | 33089696 | Human | 296 | UniProt , old_protein_id , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1349823 | HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molec ules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020] | 6 | 32578775 | 32589848 | Human | 861 | UniProt , old_protein_id , GenBank Protein , GenBank Nucleotide , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1342972 | ABL1 | ABL proto-oncogene 1, non-receptor tyrosine kinase | This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014] | 9 | 130713043 | 130887675 | Human | 785 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 730884 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-25 8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022] | 9 | 133250401 | 133275201 | Human | 99 | GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349497 | AFG1L | AFG1 like ATPase | This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV sub units. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016] | 6 | 108295054 | 108526001 | Human | 70 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 70369 | AQP1 | aquaporin 1 (Colton blood group) | This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [p rovided by RefSeq, Aug 2016] | 7 | 30911853 | 30925516 | Human | 461 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1315084 | ART4 | ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) | This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosp hatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008] | 12 | 14825569 | 14843526 | Human | 83 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 68545 | BCAM | basal cell adhesion molecule (Lutheran blood group) | This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This p rotein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] | 19 | 44809059 | 44821421 | Human | 134 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1317506 | BCR | BCR activator of RhoGEF and GTPase | A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is e ncoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020] | 22 | 23180509 | 23318037 | Human | 297 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 731272 | CALCR | calcitonin receptor | This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphism s in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] | 7 | 93424486 | 93574724 | Human | 141 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352959 | CD40LG | CD40 ligand | The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008] | X | 136648158 | 136660390 | Human | 520 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349023 | CLEC2D | C-type lectin domain family 2 member D | This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants hav e been identified for this gene. [provided by RefSeq, Oct 2010] | 12 | 9669713 | 9699553 | Human | 156 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 2311268 | COL6A4P1 | collagen type VI alpha 4 pseudogene 1 | This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this trunca ted collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009] | 3 | 15165362 | 15205959 | Human | 19 | GenBank Nucleotide | gene, pseudo, PROVISIONAL [RefSeq] |
| 1319183 | CYLD | CYLD lysine 63 deubiquitinase | This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] | 16 | 50742086 | 50801935 | Human | 312 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343567 | F8 | coagulation factor VIII | This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcript s. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] | X | 154835792 | 155022723 | Human | 799 | 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 | 100 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343149 | HLA-C | major histocompatibility complex, class I, C | HLA-C 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 endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, 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. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020] | 6 | 31268749 | 31272092 | Human | 173 | UniProt , GenBank Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351810 | HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 mo lecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 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. 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. [provided by RefSeq, Jul 2008] | 6 | 32637406 | 32655272 | Human | 464 | GenBank Nucleotide | 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 Protein , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343169 | HLA-DRB3 | major histocompatibility complex, class II, DR beta 3 | HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] | | | | Human | 79 | UniProt , GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1345500 | HLA-DRB4 | major histocompatibility complex, class II, DR beta 4 | HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] | | | | Human | 75 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350012 | HLA-DRB5 | major histocompatibility complex, class II, DR beta 5 | HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II mo lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020] | 6 | 32517353 | 32530287 | Human | 84 | UniProt , GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1345710 | HLA-DRB9 | major histocompatibility complex, class II, DR beta 9 (pseudogene) | Predicted to be involved in antigen processing and presentation and immune response. Predicted to be located in membrane. Predicted to be part of MHC class II protein complex. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 32459820 | 32460089 | Human | 4 | GenBank Nucleotide | gene, pseudo, INFERRED [RefSeq] |
| 1319842 | INTS6 | integrator complex subunit 6 | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addi tion, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015] | 13 | 51334405 | 51453036 | Human | 120 | 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 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351159 | KIR2DL3 | killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 | Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The g ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] | 19 | 54738513 | 54753052 | Human | 35 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1342944 | LAT | linker for activation of T cells | The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon pho sphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] | 16 | 28984803 | 28990784 | Human | 179 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732713 | LCP2 | lymphocyte cytosolic protein 2 | This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A si milar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016] | 5 | 170246233 | 170297777 | Human | 145 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 69123 | LEP | leptin | This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy ex penditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017] | 7 | 128241278 | 128257629 | Human | 1060 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605118 | LGR5 | leucine rich repeat containing G protein-coupled receptor 5 | The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] | 12 | 71439129 | 71586310 | Human | 173 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350145 | MED12 | mediator complex subunit 12 | The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by t his gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009] | X | 71118596 | 71142450 | Human | 668 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1314945 | NOD2 | nucleotide binding oligomerization domain containing 2 | This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysacc harides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014] | 16 | 50693606 | 50733075 | Human | 658 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353367 | NUP35 | nucleoporin 35 | This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear p ore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013] | 2 | 183117514 | 183161680 | Human | 105 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736990 | OXR1 | oxidation resistance 1 | Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cystein e S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2025] | 8 | 106270178 | 106752694 | Human | 157 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 730916 | PDGFRA | platelet derived growth factor receptor alpha | This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodim er or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] | 4 | 54229293 | 54298245 | Human | 3856 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1319304 | PKP3 | plakophilin 3 | This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellula r desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] | 11 | 392596 | 404908 | Human | 148 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1312601 | PRTN3 | proteinase 3 | Enables enzyme binding activity; serine-type endopeptidase activity; and signaling receptor binding activity. Involved in several processes, including mature conventional dendritic cell differentiation; neutrophil extravasation; and positive regulation of GTPase activity. Located in azurophil granul e lumen; cytosol; and plasma membrane raft. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 840999 | 848175 | Human | 208 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1313491 | PSMG1 | proteasome assembly chaperone 1 | Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Part of protein folding chaperone complex. [provided by Alliance of Genome Resources, Jul 2025] | 21 | 39174769 | 39183514 | Human | 98 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1604848 | RHCE | Rh blood group CcEe antigens | 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 both the R hC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. 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. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016] | 1 | 25362249 | 25430203 | Human | 58 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344783 | SEC11A | SEC11 homolog A, signal peptidase complex subunit | This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseud ogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012] | 15 | 84669544 | 84716139 | Human | 89 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320418 | SEC14L1 | SEC14 like lipid binding 1 | The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been fou nd for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011] | 17 | 77088685 | 77217101 | Human | 112 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352309 | SGMS1 | sphingomyelin synthase 1 | The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] | 10 | 50305600 | 50625184 | Human | 180 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1604178 | SLC25A42 | solute carrier family 25 member 42 | This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3 ',5'-diphosphate. [provided by RefSeq, Feb 2012] | 19 | 19063994 | 19113030 | Human | 136 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733072 | SLC40A1 | solute carrier family 40 member 1 | The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] | 2 | 189560590 | 189580786 | Human | 479 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1601745 | SLC44A2 | solute carrier family 44 member 2 (CTL2 blood group) | Enables choline transmembrane transporter activity and ethanolamine transmembrane transporter activity. Involved in choline transport; ethanolamine transport; and transmembrane transport. Located in mitochondrial outer membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025 ] | 19 | 10602455 | 10644557 | Human | 141 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 2304147 | SNHG20 | small nucleolar RNA host gene 20 | Predicted to be involved in several processes, including cellular response to fatty acid; macrophage activation; and tyrosine phosphorylation of STAT protein. Predicted to be located in nucleolus. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 77088643 | 77094986 | Human | 25 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 732035 | SP1 | Sp1 transcription factor | The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodelin g. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] | 12 | 53380176 | 53416446 | Human | 585 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737205 | SRY | sex determining region Y | This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesi s (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008] | Y | 2786855 | 2787682 | Human | 226 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1314951 | SUPT4H1 | SPT4 homolog, DSIF elongation factor subunit | This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large su bunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] | 17 | 58345178 | 58352201 | Human | 70 | 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 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344756 | SYNPO2 | synaptopodin 2 | Enables alpha-actinin binding activity and filamin binding activity. Involved in positive regulation of actin filament bundle assembly; positive regulation of cell migration; and regulation of Rho-dependent protein serine/threonine kinase activity. Located in several cellular components, including Z disc; focal adhesion; and stress fiber. [provided by Alliance of Genome Resources, Jul 2025] | 4 | 118850681 | 119061247 | Human | 126 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 6481297 | TM4SF1-AS1 | TM4SF1 antisense RNA 1 | INTERACTS WITH aflatoxin B1; bisphenol A; okadaic acid | 3 | 149377778 | 149386583 | Human | 4 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 1344776 | TMEM18 | transmembrane protein 18 | Predicted to enable DNA binding activity. Involved in cell migration. Located in nuclear membrane. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 663877 | 677406 | Human | 60 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1354073 | TNFRSF13C | TNF receptor superfamily member 13C | B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in s erum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008] | 22 | 41922032 | 41926806 | Human | 112 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1604181 | VSTM1 | V-set and transmembrane domain containing 1 | Predicted to enable cytokine activity. Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular space and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 54040825 | 54063897 | Human | 25 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1343061 | ZCCHC2 | zinc finger CCHC-type containing 2 | Predicted to enable nucleic acid binding activity; phosphatidylinositol binding activity; and zinc ion binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 18 | 62523025 | 62586729 | Human | 92 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 734288 | PGGT1B | protein geranylgeranyltransferase type I subunit beta | Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010] | 5 | 115204012 | 115262877 | Human | 103 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1322248 | ROBO3 | roundabout guidance receptor 3 | This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for R OBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019] | 11 | 124865432 | 124881471 | Human | 162 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 16555693 | AL356417.2 | novel transcript, antisense to FNDC1 | | | | | Human | | name | gene, lncrna |
| 16555492 | AL591719.2 | novel transcript, antisense to FNDC7 | | | | | Human | | name | gene, lncrna |
| 16563566 | AC024361.1 | novel transcript, sense intronic FN3K | | | | | Human | | name | gene, lncrna |
| 16567476 | AL161421.1 | novel transcript, antisense to FNDC3A | | | | | Human | | name | gene, lncrna |
| 16570304 | AC007326.3 | fructosamine 3 kinase (FN3K) pseudogene | | | | | Human | | name | gene, unprocessed_pseudogene |
| 16566277 | AL139022.2 | novel transcript, antisense to CHURC1-FNTB | | | | | Human | | name | gene, lncrna |
| 16556900 | AP000358.1 | pseudogene similar to part of fructosamine 3 kinase (FN3K) | | | | | Human | | name | gene, processed_pseudogene |
| 16553015 | AC062016.1 | pseudogene similar to part of fibronectin type III domain containing 3A (FNDC3A) | | | | | Human | | name | gene, processed_pseudogene |
| 1354263 | ELSPBP1 | epididymal sperm binding protein 1 | The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn weight:700;'>Fn2-module protein family. [provided by RefSeq, Jul 2008] | 19 | 47994632 | 48025154 | Human | 13 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1346005 | FSD2 | fibronectin type III and SPRY domain containing 2 | This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] | 15 | 82755362 | 82806069 | Human | 48 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605997 | LAMTOR1 | late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 | Enables GTPase binding activity and protein-membrane adaptor activity. Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cholesterol homeostasis; positive regulation of TORC1 signaling; and regulation of cholesterol tra nsport. Located in lysosome. Part of FNIP-folliculin RagC/D GAP. Is active in Ragulator complex and lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2025] | 11 | 72097292 | 72103297 | Human | 143 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1604690 | LAMTOR4 | late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 | Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cellular response to amino acid stimulus; positive regulation of TORC1 signaling; and protein localization to lysosome. Located in lysosome. Part of FN ight:700;'>FNIP-folliculin RagC/D GAP and Ragulator complex. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 100148918 | 100154203 | Human | 75 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1318580 | MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-gr oup transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] | 5 | 7850859 | 7901113 | Human | 293 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1349440 | RRAGA | Ras related GTP binding A | Enables several functions, including GTP binding activity; protein dimerization activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cellular response to amino acid starvation; positive regulation of TORC1 signaling; and tumor necrosis factor-mediated sig naling pathway. Located in GATOR1 complex; lysosome; and nucleoplasm. Part of FNIP-folliculin RagC/D GAP. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 19049427 | 19051025 | Human | 138 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1604225 | SLC38A9 | solute carrier family 38 member 9 | Enables several functions, including L-amino acid transmembrane transporter activity; cholesterol binding activity; and guanyl-nucleotide exchange factor activity. Involved in carboxylic acid transport; cellular response to amino acid stimulus; and positive regulation of TORC1 signaling. Located in Ragulator complex; late endosome; and lysosomal membrane. Part of FNIP-folliculin RagC/D GAP. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 55625845 | 55712335 | Human | 90 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1350160 | TNFSF12 | TNF superfamily member 12 | The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue dist ribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] | 17 | 7549058 | 7557881 | Human | 141 | description | gene, protein-coding, REVIEWED [RefSeq] |
