| 1351721 | CD70 | CD70 molecule | The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the gen eration of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008] | 19 | 6581648 | 6591150 | Human | 154 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1557740 | Cd70 | CD70 antigen | Enables receptor ligand activity. Involved in T cell proliferation. Is active in plasma membrane. Is expressed in Meckel's cartilage; hip; and skeleton. Human ortholog(s) of this gene implicated in lymphoproliferative syndrome. Orthologous to human CD70 (CD70 tyle='font-weight:700;'>CD70 molecule). [provided by Alliance of Genome Resources, Jul 2025] | 17 | 57452997 | 57456777 | Mouse | 158 | symbol , PhenoGen , name , description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1588573 | Cd70 | Cd70 molecule | ENCODES a protein that exhibits receptor ligand activity (ortholog); INVOLVED IN adaptive immune memory response involving T cells and B cells (ortholog); B cell mediated immunity (ortholog); B cell proliferation (ortholog); PARTICIPATES IN cytokine mediated signaling pathway; ASSOCIATED WITH dilate d cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN plasma membrane (ortholog); INTERACTS WITH 6-propyl-2-thiouracil; arsenous acid; bisphenol A | 9 | 2093540 | 2096692 | Rat | 140 | symbol , old_gene_name , PhenoGen , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 11731004 | CD70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN adaptive immune memory response involving T cells and B cells (inferred); B cell mediated immunity (inferred); B cell proliferation (inferred); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN extracellular exosome (inferred); membrane (inferred); plasma membrane (inferred) | 19 | 5615056 | 5621055 | Bonobo | 30 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12414999 | CD70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN adaptive immune memory response involving T cells and B cells (inferred); B cell mediated immunity (inferred); B cell proliferation (inferred); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | 20 | 53639315 | 53642687 | Dog | 29 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12514230 | Cd70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN adaptive immune memory response involving T cells and B cells (inferred); B cell mediated immunity (inferred); B cell proliferation (inferred); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN extracellular exosome (inferred); membrane (inferred); plasma membrane (inferred) | NW_004936588 | 3918944 | 3921720 | Squirrel | 30 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 13937923 | CD70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (ortholog); INVOLVED IN adaptive immune memory response involving T cells and B cells (ortholog); CD27 signaling pathway (ortholog); T cell activation (ortholog); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); L ymphoproliferative Syndrome 3 (ortholog); FOUND IN plasma membrane (ortholog) | | | | Pig | 33 | symbol , old_gene_name , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18705643 | CD70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN adaptive immune memory response involving T cells and B cells (inferred); B cell mediated immunity (inferred); B cell proliferation (inferred); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN extracellular exosome (inferred); membrane (inferred); plasma membrane (inferred) | | | | Green Monkey | 30 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18915512 | Cd70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (inferred); tumor necrosis factor receptor binding (inferred); INVOLVED IN adaptive immune memory response involving T cells and B cells (ortholog); B cell mediated immunity (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholog); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN plasma membrane (ortholog) | | | | Naked Mole-Rat | 28 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 626064464 | Cd70 | CD70 molecule | ENCODES a protein that exhibits receptor ligand activity (ortholog); INVOLVED IN adaptive immune memory response involving T cells and B cells (ortholog); B cell mediated immunity (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH dilated cardiomyopathy (ortholog); genetic disease (ortholo g); Lymphoproliferative Syndrome 3 (ortholog); FOUND IN plasma membrane (ortholog) | | | | Black Rat | 22 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 8899671 | LOC102003153 | CD70 antigen-like | | NW_004955495 | 2876196 | 2880324 | Chinchilla | | name | gene, protein-coding, MODEL [RefSeq] |
| 8793086 | LOC102008868 | CD70 antigen-like | | NW_004955495 | 3023146 | 3026631 | Chinchilla | | name | gene, protein-coding, MODEL [RefSeq] |
| 16561079 | AC010186.2 | C-type lectin domain family 2 (CLEC2) pseudogene | | 12 | 9617284 | 9658415 | Human | | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1347611 | ACKR1 | atypical chemokine receptor 1 (Duffy blood group) | The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group sys tem. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 159204875 | 159206500 | Human | 95 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 38622638 | ADAM7-AS1 | ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 | | 8 | 24295814 | 24548618 | Human | | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 5684153 | ANKRD18CP | ankyrin repeat domain 18C, pseudogene | INTERACTS WITH benzo[a]pyrene | 9 | 97155893 | 97238742 | Human | 1 | GenBank Nucleotide | gene, pseudo, PROVISIONAL [RefSeq] |
| 1350086 | ASCC1 | activating signal cointegrator 1 complex subunit 1 | This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and ser um response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] | 10 | 72096032 | 72217134 | Human | 119 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1319131 | BCO2 | beta-carotene oxygenase 2 | This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] | 11 | 112175512 | 112218946 | Human | 118 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1318795 | BLM | BLM RecQ like helicase | The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase un winds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020] | 15 | 90717346 | 90816166 | Human | 986 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1350737 | BTLA | B and T lymphocyte associated | This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene ha ve been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] | 3 | 112463966 | 112499624 | Human | 78 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1346267 | BTN3A2 | butyrophilin subfamily 3 member A2 | This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively s pliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] | 6 | 26365169 | 26378320 | Human | 84 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1602870 | C17orf75 | chromosome 17 open reading frame 75 | Involved in intracellular protein transport and vesicle tethering to Golgi. Located in cytoplasmic vesicle; cytosol; and trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 32328441 | 32350014 | Human | 37 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1602983 | C1orf87 | chromosome 1 open reading frame 87 | FOUND IN axoneme; cilium; INTERACTS WITH aflatoxin B1; benzo[a]pyrene; bisphenol A | 1 | 59990394 | 60073770 | Human | 13 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 737362 | CAST | calpastatin | The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin s ystem is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] | 5 | 95961429 | 96774683 | Human | 231 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343969 | CBY1 | chibby 1, beta catenin antagonist | Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcri ption factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 22 | 38656638 | 38673850 | Human | 129 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1318406 | CCR6 | C-C motif chemokine receptor 6 | This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] | 6 | 167111795 | 167139141 | Human | 233 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1604658 | CD86 | CD86 molecule | This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this p rotein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] | 3 | 122055362 | 122121136 | Human | 497 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1354444 | CLEC4F | C-type lectin domain family 4 member F | Predicted to enable galactose binding activity; glycolipid binding activity; and pattern recognition receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within NK T cell activation. Predicted to be located in plasma membrane. Predicted to be active in exte rnal side of plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 70808643 | 70825235 | Human | 81 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1314534 | COX7A2L | cytochrome c oxidase subunit 7A2 like | Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits e ncoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016] | 2 | 42335559 | 42368957 | Human | 101 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1318600 | DDX23 | DEAD-box helicase 23 | This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation , nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] | 12 | 48829756 | 48852163 | Human | 130 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 6481325 | DGUOK-AS1 | DGUOK antisense RNA 1 | INTERACTS WITH 2-hydroxypropanoic acid; GSK-J4; rac-lactic acid | 2 | 73957967 | 73981439 | Human | 3 | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 735779 | DIO2 | iodothyronine deiodinase 2 | The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, includi ng in thyroid and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018] | 14 | 80197526 | 80231057 | Human | 317 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1603257 | DNAH12 | dynein axonemal heavy chain 12 | Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in axoneme and microtubule. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Jul 2025] | 3 | 57293700 | 57556034 | Human | 76 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1603291 | DPY30 | dpy-30 histone methyltransferase complex regulatory subunit | This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016] | 2 | 32011649 | 32039835 | Human | 88 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1320061 | EAPP | E2F associated phosphoprotein | This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative sp licing results in multiple transcript variants. [provided by RefSeq, Jan 2016] | 14 | 34515938 | 34539701 | Human | 49 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1607076 | EMG1 | EMG1 N1-specific pseudouridine methyltransferase | This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Con radi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] | 12 | 6970913 | 6997428 | Human | 158 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343894 | FLACC1 | flagellum associated containing coiled-coil domains 1 | Predicted to be located in cytoplasmic vesicle and outer dense fiber. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 201288271 | 201364289 | Human | 60 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1603714 | FYB1 | FYN binding protein 1 | The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provid ed by RefSeq, Jul 2011] | 5 | 39105252 | 39274528 | Human | 145 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1602228 | G3BP2 | G3BP stress granule assembly factor 2 | Enables molecular condensate scaffold activity. Involved in positive regulation of stress granule assembly; protein homooligomerization; and stress granule assembly. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Apr 2025] | 4 | 75642786 | 75724437 | Human | 134 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1604390 | GPATCH8 | G-patch domain containing 8 | The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple trans cript variants encoding different isoforms. [provided by RefSeq, Feb 2015] | 17 | 44395281 | 44503406 | Human | 66 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736934 | GSTT1 | glutathione S-transferase theta 1 | The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, t heta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2015] | | | | Human | 574 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1353912 | HDAC9 | histone deacetylase 9 | Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histon e deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] | 7 | 18086825 | 19002416 | Human | 209 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1348965 | HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein en coded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016] | 12 | 54280726 | 54287087 | Human | 429 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1606679 | HYLS1 | HYLS1 centriolar and ciliogenesis associated | This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] | 11 | 125883614 | 125900646 | Human | 228 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735947 | IL2RA | interleukin 2 receptor subunit alpha | The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020] | 10 | 6010689 | 6062367 | Human | 387 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320295 | IL7R | interleukin 7 receptor | The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015] | 5 | 35856891 | 35879603 | Human | 386 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1347000 | KCNE3 | potassium voltage-gated channel subfamily E regulatory subunit 3 | Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte tran sport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008] | 11 | 74454841 | 74467549 | Human | 223 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 735390 | LGALS2 | galectin 2 | The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008] | 22 | 37570248 | 37580087 | Human | 119 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 8699340 | LINC01507 | long intergenic non-protein coding RNA 1507 | | 9 | 79824530 | 80034555 | Human | | GenBank Nucleotide | gene, ncrna, VALIDATED [RefSeq] |
| 1604070 | LYST | lysosomal trafficking regulator | This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013] | 1 | 235661031 | 235883713 | Human | 458 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 733503 | MNAT1 | MNAT1 component of CDK activating kinase | The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding differe nt isoforms have been found for this gene. [provided by RefSeq, Sep 2011] | 14 | 60734761 | 60969965 | Human | 107 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1349436 | MPI | mannose phosphate isomerase | Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate -deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] | 15 | 74890042 | 74902219 | Human | 200 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1313641 | MS4A7 | membrane spanning 4-domains A7 | This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] | 11 | 60378532 | 60395948 | Human | 79 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1606574 | MYL12A | myosin light chain 12A | This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing trans cription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014] | 18 | 3247482 | 3256237 | Human | 106 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1344668 | NAT1 | N-acetyltransferase 1 | This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabo lize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] | 8 | 18170467 | 18223689 | Human | 209 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605379 | NKAPD1 | NKAP domain containing 1 | Enables identical protein binding activity. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 112074299 | 112085150 | Human | 33 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1604057 | NME6 | NME/NM23 nucleoside diphosphate kinase 6 | Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010] | 3 | 48287640 | 48301367 | Human | 113 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1344013 | PBDC1 | polysaccharide biosynthesis domain containing 1 | INTERACTS WITH (+)-catechin; 2,4,6-tribromophenol; 3,3',5,5'-tetrabromobisphenol A | X | 76173062 | 76178314 | Human | 68 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1349730 | PCM1 | pericentriolar material 1 | The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centros ome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] | 8 | 17922988 | 18029948 | Human | 198 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343939 | PGD | phosphogluconate dehydrogenase | 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogl uconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] | 1 | 10399064 | 10420511 | Human | 253 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 732360 | RGS2 | regulator of G protein signaling 2 | Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G protein s into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009] | 1 | 192809039 | 192812275 | Human | 377 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316925 | RHOH | ras homolog family member H | The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013] | 4 | 40191080 | 40246967 | Human | 124 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1320822 | RNASE1 | ribonuclease A family member 1, pancreatic | This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] | 14 | 20801228 | 20802844 | Human | 86 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 2305220 | RPL19P12 | ribosomal protein L19 pseudogene 12 | INTERACTS WITH chloropicrin; sunitinib | 7 | 103141270 | 103142403 | Human | 2 | GenBank Nucleotide | gene, pseudo, VALIDATED [RefSeq] |
| 1312654 | RUBCNL | rubicon like autophagy enhancer | This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017] | 13 | 46334681 | 46390042 | Human | 79 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352515 | SAXO6 | stabilizer of axonemal microtubules 6 | This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019] | 12 | 68294566 | 68332362 | Human | 107 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1602000 | SELENOT | selenoprotein T | This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson's disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [provided by RefSeq, Sep 2017] | 3 | 150603321 | 150630436 | Human | 84 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 736732 | SERPINB7 | serpin family B member 7 | This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] | 18 | 63753057 | 63805370 | Human | 99 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1603889 | SLFN5 | schlafen family member 5 | Predicted to enable ATP binding activity. Predicted to be involved in cell differentiation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 35243072 | 35273655 | Human | 129 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1348339 | SMARCA2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around t hose genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014] | 9 | 2015347 | 2193620 | Human | 527 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1352789 | SREK1 | splicing regulatory glutamic acid and lysine rich protein 1 | This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] | 5 | 66144300 | 66183615 | Human | 93 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1322081 | TARDBP | TAR DNA binding protein | HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008] | 1 | 11012654 | 11030528 | Human | 456 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1351026 | TCEAL4 | transcription elongation factor A like 4 | This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. This family is comprised of nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternatively splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 13. [provided by RefSeq, Apr 2015] | X | 103576231 | 103587729 | Human | 30 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1316870 | THAP1 | THAP domain containing 1 | The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] | 8 | 42836674 | 42843325 | Human | 181 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1604280 | TMEM163 | transmembrane protein 163 | Predicted to enable zinc ion binding activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating leukodystrophy 25. [provided by Al liance of Genome Resources, Jul 2025] | 2 | 134455759 | 134719000 | Human | 139 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1346827 | TNFRSF10D | TNF receptor superfamily member 10d | The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL -induced cell apoptosis. [provided by RefSeq, Jul 2008] | 8 | 23135588 | 23164027 | Human | 123 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1605425 | TRAF5 | TNF receptor associated factor 5 | The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal tr ansduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] | 1 | 211326635 | 211374946 | Human | 135 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 737348 | UBA3 | ubiquitin like modifier activating enzyme 3 | 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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 3 | 69054730 | 69080373 | Human | 115 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1323075 | USP28 | ubiquitin specific peptidase 28 | The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016] | 11 | 113797875 | 113875572 | Human | 123 | GenBank Nucleotide | gene, protein-coding, REVIEWED [RefSeq] |
| 1343710 | ZNF226 | zinc finger protein 226 | Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 44165100 | 44199490 | Human | 54 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1344905 | ZNF343 | zinc finger protein 343 | Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 20 | 2481817 | 2524999 | Human | 46 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1342692 | ZNF708 | zinc finger protein 708 | Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 19 | 21291160 | 21329410 | Human | 30 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1606270 | ZNF770 | zinc finger protein 770 | Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 34978341 | 34988287 | Human | 54 | GenBank Nucleotide | gene, protein-coding, VALIDATED [RefSeq] |
| 1353701 | CD27 | CD27 molecule | The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008] | 12 | 6443892 | 6451713 | Human | 164 | description | gene, protein-coding, REVIEWED [RefSeq] |
