| 1605410 | TOX | thymocyte selection associated high mobility group box | The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] | 8 | 58805412 | 59119147 | Human | 138 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 16550807 | TOX-DT | TOX divergent transcript | | 8 | 59119210 | 59123478 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 1353863 | DUOX2 | dual oxidase 2 | The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide gen erating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008] | 15 | 45092650 | 45114172 | Human | 378 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1350992 | TOX2 | TOX high mobility group box family member 2 | Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 20 | 43914852 | 44069616 | Human | 91 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1323035 | TOX3 | TOX high mobility group box family member 3 | The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been impl icated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] | 16 | 52436416 | 52547802 | Human | 128 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1350277 | TOX4 | TOX high mobility group box family member 4 | Predicted to enable chromatin DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in chromatin and chromosome, telomeric region. Part of PTW/PP1 phosphatase complex. [provided by Alliance of Genome Resources, Apr 2025] | 14 | 21477195 | 21499170 | Human | 82 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 6484053 | TOX4P1 | TOX high mobility group box family member 4 pseudogene 1 | | 4 | 112455857 | 112457986 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1316162 | ANTXR1 | ANTXR cell adhesion molecule 1 | This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative age nt of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] | 2 | 69013144 | 69249327 | Human | 310 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 736060 | GSTM1 | glutathione S-transferase mu 1 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encod es a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] | 1 | 109687817 | 109693745 | Human | 979 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1349768 | GSTM3 | glutathione S-transferase mu 3 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encod es a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] | 1 | 109733937 | 109741038 | Human | 446 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 737133 | GSTA2 | glutathione S-transferase alpha 2 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental tox ght:700;'>toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] | 6 | 52750087 | 52763475 | Human | 337 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735264 | GSTM2 | glutathione S-transferase mu 2 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encod es a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] | 1 | 109668057 | 109683997 | Human | 496 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606334 | GSTM4 | glutathione S-transferase mu 4 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encod es a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008] | 1 | 109656099 | 109667727 | Human | 213 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343128 | GSTM5 | glutathione S-transferase mu 5 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encod es a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008] | 1 | 109711751 | 109718268 | Human | 105 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 69489 | UGT2A1 | UDP glucuronosyltransferase family 2 member A1 complex locus | The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022] | 4 | 69588417 | 69653247 | Human | 84 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1601678 | UGT2A2 | UDP glucuronosyltransferase family 2 member A2 | The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A1 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022] | 4 | 69588417 | 69639642 | Human | 27 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 16554465 | AL590762.1 | pseudogene similar to part of ras-related C3 botulinum toxin substrate | | | | | Human | | name | gene, processed_pseudogene |
| 1346318 | ANTXR2 | ANTXR cell adhesion molecule 2 | This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multi ple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] | 4 | 79901146 | 80073472 | Human | 291 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1344271 | TNFRSF19 | TNF receptor superfamily member 19 | The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducin g apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] | 13 | 23570412 | 23676093 | Human | 182 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1602061 | ANTXRL | ANTXR like | Predicted to enable transmembrane signaling receptor activity. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 46286092 | 46330129 | Human | 19 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1605371 | SLC47A1 | solute carrier family 47 member 1 | This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] | 17 | 19533854 | 19579034 | Human | 282 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1603576 | SLC47A2 | solute carrier family 47 member 2 | This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and tox -weight:700;'>toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] | 17 | 19678317 | 19718979 | Human | 133 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1347509 | CFLAR | CASP8 and FADD like apoptosis regulator | The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011] | 2 | 201116164 | 201176687 | Human | 451 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 736057 | PROK1 | prokineticin 1 | The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011] | 1 | 110451149 | 110457358 | Human | 74 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1352320 | DPH1 | diphthamide biosynthesis 1 | The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotox style='font-weight:700;'>toxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016] | 17 | 2030112 | 2043898 | Human | 153 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1312184 | DPH2 | diphthamide biosynthesis 2 | This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] | 1 | 43970010 | 43973369 | Human | 156 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1345195 | FADD | Fas associated via death domain | The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-rece ptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008] | 11 | 70203296 | 70207390 | Human | 461 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 7206882 | ANTXRLP1 | ANTXR like pseudogene 1 | INTERACTS WITH benzo[a]pyrene | 10 | 46219025 | 46269608 | Human | 1 | old_gene_name | gene, pseudo, VALIDATED [RefSeq] |
| 1605432 | RAC1 | Rac family small GTPase 1 | The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases . Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] | 7 | 6374527 | 6403967 | Human | 794 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1316839 | RAC2 | Rac family small GTPase 2 | This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013] | 22 | 37225270 | 37244269 | Human | 332 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1344542 | RAC3 | Rac family small GTPase 3 | The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases . Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] | 17 | 82031678 | 82034204 | Human | 258 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1312119 | ART1 | ADP-ribosyltransferase 1 | ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile e nterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008] | 11 | 3645128 | 3664416 | Human | 53 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1320437 | ART3 | ADP-ribosyltransferase 3 (inactive) | This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] | 4 | 76011190 | 76112786 | Human | 111 | old_gene_name | gene, protein-coding, VALIDATED [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 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1347628 | ART5 | ADP-ribosyltransferase 5 | The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] | 11 | 3638512 | 3642379 | Human | 57 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1345118 | PARP1 | poly(ADP-ribose) polymerase 1 | This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008] | 1 | 226360691 | 226408093 | Human | 2337 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1344897 | PARP14 | poly(ADP-ribose) polymerase family member 14 | This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016 ] | 3 | 122680839 | 122730840 | Human | 184 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1353381 | PARP15 | poly(ADP-ribose) polymerase family member 15 | Enables NAD+ binding activity; pentosyltransferase activity; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II and protein poly-ADP-ribosylation. Predicted to be active in cytoplasm and nucleus. Biomarker of atherosclerosis. [provided by Al liance of Genome Resources, Jul 2025] | 3 | 122577650 | 122639047 | Human | 42 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1602134 | PARP2 | poly(ADP-ribose) polymerase 2 | This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding doma in which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008] | 14 | 20343635 | 20357904 | Human | 163 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1604647 | PARP3 | poly(ADP-ribose) polymerase family member 3 | The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] | 3 | 51942363 | 51948867 | Human | 126 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1606845 | PARP4 | poly(ADP-ribose) polymerase family member 4 | This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-termina l catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008] | 13 | 24420931 | 24512778 | Human | 101 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1347584 | PARP9 | poly(ADP-ribose) polymerase family member 9 | Enables several functions, including ADP-D-ribose binding activity; STAT family protein binding activity; and pentosyltransferase activity. Involved in several processes, including DNA damage checkpoint signaling; regulation of defense response; and regulation of macromolecule metabolic process. Loc ated in several cellular components, including mitochondrion; nucleoplasm; and site of DNA damage. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2025] | 3 | 122527924 | 122564784 | Human | 180 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1322405 | RAET1E | retinoic acid early transcript 1E | This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rathe r than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] | 6 | 149883179 | 149898113 | Human | 79 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1343497 | TNKS | tankyrase | Enables histone binding activity; pentosyltransferase activity; and zinc ion binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; post-translational protein modification; and regulation of chromosome organization. Acts upstream of or with in peptidyl-serine phosphorylation and peptidyl-threonine phosphorylation. Located in several cellular components, including chromosome, telomeric region; mitotic spindle pole; and nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 9555912 | 9782346 | Human | 167 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1312811 | TNKS2 | tankyrase 2 | Enables NAD+ poly-ADP-ribosyltransferase activity; NAD+-protein mono-ADP-ribosyltransferase activity; and enzyme binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; post-translational protein modification; and regulation of telomere main tenance. Located in nuclear envelope; pericentriolar material; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 91798426 | 91865475 | Human | 145 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1348193 | PARP10 | poly(ADP-ribose) polymerase family member 10 | Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008] | 8 | 143977158 | 144012764 | Human | 115 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1344916 | PARP11 | poly(ADP-ribose) polymerase family member 11 | Enables NAD+ poly-ADP-ribosyltransferase activity and NAD+-protein mono-ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Located in cytosol; nuclear body; and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 3808861 | 3873399 | Human | 82 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1318511 | PARP12 | poly(ADP-ribose) polymerase family member 12 | Enables NAD+-protein mono-ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 7 | 140023749 | 140062951 | Human | 117 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1350046 | PARP16 | poly(ADP-ribose) polymerase family member 16 | Enables kinase binding activity; pentosyltransferase activity; and protein serine/threonine kinase activator activity. Involved in IRE1-mediated unfolded protein response; negative regulation of cytoplasmic translation; and protein auto-ADP-ribosylation. Located in endoplasmic reticulum tubular netw ork and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025] | 15 | 65230917 | 65286883 | Human | 109 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1344996 | PARP6 | poly(ADP-ribose) polymerase family member 6 | Enables NAD+-protein-aspartate ADP-ribosyltransferase activity and NAD+-protein-cysteine ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Predicted to be active in endoplasmic reticulum tubular network and nuclear envelope. [provided by Alliance of Genome Resources, Jul 20 25] | 15 | 72241181 | 72272554 | Human | 78 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1350347 | PARP8 | poly(ADP-ribose) polymerase family member 8 | Enables NAD+-protein mono-ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Predicted to be active in endoplasmic reticulum tubular network and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 50665931 | 50846519 | Human | 99 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1314636 | TIPARP | TCDD inducible poly(ADP-ribose) polymerase | This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by Ref Seq, May 2010] | 3 | 156674590 | 156706770 | Human | 268 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 736106 | ZC3HAV1 | zinc finger CCCH-type containing, antiviral 1 | This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses, including Eb ola virus, HIV and SARS-CoV-2 (which causes COVID-19). [provided by RefSeq, Sep 2021] | 7 | 139043515 | 139109720 | Human | 155 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 16552360 | AL450338.1 | ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) pseudogene | | 6 | 85868944 | 85869499 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 733617 | ABTB2 | ankyrin repeat and BTB domain containing 2 | Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 34150987 | 34358010 | Human | 117 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1348641 | AHRR | aryl hydrocarbon receptor repressor | The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-depen dent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] | 5 | 321714 | 438285 | Human | 201 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1347108 | AKR1C4 | aldo-keto reductase family 1 member C4 | This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping bu t distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] | 10 | 5196837 | 5218949 | Human | 213 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1322469 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet fu nction. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017] | 17 | 6996049 | 7010754 | Human | 247 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1353880 | ARF1 | ARF GTPase 1 | ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activat ors of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 228082708 | 228099212 | Human | 214 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1354397 | ARF3 | ARF GTPase 3 | ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022] | 12 | 48935723 | 48957487 | Human | 144 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1352328 | ARF4 | ARF GTPase 4 | This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. T he gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] | 3 | 57571363 | 57597344 | Human | 157 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732462 | ARF5 | ARF GTPase 5 | This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activat ors of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] | 7 | 127588411 | 127591700 | Human | 91 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 734181 | ARF6 | ARF GTPase 6 | This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular traffic king and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] | 14 | 49893082 | 49897054 | Human | 230 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732961 | ARL1 | ARF like GTPase 1 | The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulat e intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] | 12 | 101393116 | 101407820 | Human | 123 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605303 | C8orf34 | chromosome 8 open reading frame 34 | This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing ch emotherapeutic treatment. [provided by RefSeq, Mar 2017] | 8 | 68330373 | 68819023 | Human | 35 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732740 | CAT | catalase | This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] | 11 | 34438934 | 34472060 | Human | 3386 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735525 | CNR1 | cannabinoid receptor 1 | This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009] | 6 | 88139864 | 88167349 | Human | 483 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732246 | CNR2 | cannabinoid receptor 2 | The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. The y inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008] | 1 | 23870515 | 23913362 | Human | 269 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1351527 | CYP2F1 | cytochrome P450 family 2 subfamily F member 1 | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is know n to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] | 19 | 41114432 | 41128381 | Human | 212 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1344529 | DCPS | decapping enzyme, scavenger | This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5′ mRNA cap structure, which appear in the 3′ → 5′ mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes t he triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017] | 11 | 126304060 | 126350005 | Human | 160 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606338 | DFFA | DNA fragmentation factor subunit alpha | Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 10456522 | 10472529 | Human | 167 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731033 | DFFB | DNA fragmentation factor subunit beta | Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013] | 1 | 3857476 | 3885429 | Human | 161 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343992 | DNAJB8 | DnaJ heat shock protein family (Hsp40) member B8 | The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012] | 3 | 128462437 | 128466890 | Human | 38 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1350551 | DNAJC24 | DnaJ heat shock protein family (Hsp40) member C24 | Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria tox 700;'>toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] | 11 | 31369860 | 31432835 | Human | 54 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1346924 | DPH3 | diphthamide biosynthesis 3 | This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the b acterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009] | 3 | 16257061 | 16264943 | Human | 91 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1602122 | DPH5 | diphthamide biosynthesis 5 | This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 100989623 | 101025784 | Human | 138 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1312556 | DPH7 | diphthamide biosynthesis 7 | Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016] | 9 | 137554444 | 137578925 | Human | 50 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731730 | DPYD | dihydropyrimidine dehydrogenase | The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uracilu ria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] | 1 | 97077743 | 97921059 | Human | 761 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606303 | FLVCR1 | FLVCR choline and heme transporter 1 | This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a r ole in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] | 1 | 212858275 | 212899363 | Human | 244 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731694 | GGT7 | gamma-glutamyltransferase 7 | This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008] | 20 | 34844720 | 34872856 | Human | 74 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736383 | GLRX | glutaredoxin | This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlli ng the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011] | 5 | 95813849 | 95822726 | Human | 275 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1317712 | GNA14 | G protein subunit alpha 14 | This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009] | 9 | 77423079 | 77648322 | Human | 187 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733341 | GNAZ | G protein subunit alpha z | The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluid s. [provided by RefSeq, Jul 2008] | 22 | 23070519 | 23125032 | Human | 141 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 734191 | GPT | glutamic--pyruvic transaminase | This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism o f glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009] | 8 | 144503068 | 144507172 | Human | 1397 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1349200 | GSTA1 | glutathione S-transferase alpha 1 | This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detox yle='font-weight:700;'>toxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] | 6 | 52791371 | 52803816 | Human | 397 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1351230 | GSTA3 | glutathione S-transferase alpha 3 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight di stinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] | 6 | 52896646 | 52909698 | Human | 295 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1320601 | GSTA4 | glutathione S-transferase alpha 4 | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight di stinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] | 6 | 52977953 | 52995284 | Human | 267 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731775 | HAAO | 3-hydroxyanthranilate 3,4-dioxygenase | 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HA AO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] | 2 | 42767089 | 42792583 | Human | 242 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1323512 | HEMK2 | HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine | This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less tox 00;'>toxic dimethylarsonic acid. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Mar 2023] | 21 | 28575598 | 28885367 | Human | 99 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735606 | IVD | isovaleryl-CoA dehydrogenase | Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isoval eric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017] | 15 | 40405795 | 40435947 | Human | 340 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1312479 | LOXHD1 | lipoxygenase homology PLAT domains 1 | This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory ha ir cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] | 18 | 46476961 | 46657220 | Human | 203 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 735904 | MGMT | O-6-methylguanine-DNA methyltransferase | Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein cataly zes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015] | 10 | 129467241 | 129770983 | Human | 426 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 737343 | MGST1 | microsomal glutathione S-transferase 1 | The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012] | 12 | 16347115 | 16593331 | Human | 350 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1349540 | MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in several diseases, including MELAS syn drome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Jul 2025] | MT | 3307 | 4262 | Human | 538 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1352993 | MT1B | metallothionein 1B | The protein encoded by this gene binds heavy metals and protects against toxicity from heavy metal ions. This gene is found in a cluster of similar genes on chromosome 16. [provided by RefSeq, Jul 2016] | 16 | 56651886 | 56653204 | Human | 83 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1606267 | MTARC2 | mitochondrial amidoxime reducing component 2 | The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxyla ted nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016] | 1 | 220748322 | 220784815 | Human | 115 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732527 | NAT2 | N-acetyltransferase 2 | This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polym orphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019] | 8 | 18386301 | 18401218 | Human | 302 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1321571 | NPTX1 | neuronal pentraxin 1 | NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008] | 17 | 80466834 | 80476607 | Human | 173 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1607068 | NPTXR | neuronal pentraxin receptor | This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008] | 22 | 38818452 | 38844028 | Human | 95 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1321575 | NUDT14 | nudix hydrolase 14 | The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] | 14 | 105172939 | 105181312 | Human | 77 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1317982 | NUDT15 | nudix hydrolase 15 | This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing tr ansversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016] | 13 | 48037726 | 48052755 | Human | 95 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1605623 | NUDT18 | nudix hydrolase 18 | The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012] | 8 | 22106878 | 22110482 | Human | 87 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1350832 | NUDT7 | nudix hydrolase 7 | The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] | 16 | 77722514 | 77742260 | Human | 168 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1344089 | OBP2A | odorant binding protein 2A | This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or tox ont-weight:700;'>toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] | 9 | 135546126 | 135549969 | Human | 61 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1352736 | PKD1L1 | polycystin 1 like 1, transient receptor potential channel interacting | This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive syst em. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] | 7 | 47774614 | 47960906 | Human | 120 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343423 | PKD1L2 | polycystin 1 like 2 (gene/pseudogene) | This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycyst in-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022] | 16 | 81100875 | 81220394 | Human | 84 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1317476 | PKD1L3 | polycystin 1 like 3, transient receptor potential channel interacting | This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] | 16 | 71929538 | 72000402 | Human | 57 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1315287 | PKDREJ | polycystin family receptor for egg jelly | This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-tox in (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008] | 22 | 46255663 | 46263343 | Human | 41 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342592 | RAC1P5 | Rac family small GTPase 1 pseudogene 5 | This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq, Jul 2008] | 4 | 107202653 | 107204757 | Human | | old_gene_name , description | gene, pseudo, REVIEWED [RefSeq] |
| 1316030 | RHOG | ras homolog family member G | This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011] | 11 | 3826978 | 3840959 | Human | 117 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1350281 | SCFD1 | sec1 family domain containing 1 | Predicted to enable syntaxin binding activity. Involved in negative regulation of autophagosome assembly; regulation of protein transport; and response to toxic substance. Located in cis-Golgi network. [provided by Alliance of Genome Resources, Jul 2025] | 14 | 30622254 | 30735850 | Human | 108 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 732626 | SLC22A1 | solute carrier family 22 member 1 | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation t ransporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] | 6 | 160121815 | 160158718 | Human | 463 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1353940 | SLC22A11 | solute carrier family 22 member 11 | The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, wher e it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] | 11 | 64555941 | 64572875 | Human | 135 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1322509 | SLC22A15 | solute carrier family 22 member 15 | Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solu te facilitators (ASFs).[supplied by OMIM, Apr 2004] | 1 | 115976513 | 116070054 | Human | 92 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1342518 | SLC22A2 | solute carrier family 22 member 2 | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation t ransporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008] | 6 | 160216755 | 160258821 | Human | 608 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1351828 | SLC22A3 | solute carrier family 22 member 3 | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation t ransporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008] | 6 | 160348378 | 160452577 | Human | 372 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733281 | SLC22A4 | solute carrier family 22 member 4 | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation t ransporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008] | 5 | 132294394 | 132344190 | Human | 254 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 733710 | SLC22A5 | solute carrier family 22 member 5 | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral m embrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] | 5 | 132369710 | 132395612 | Human | 706 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 619572 | SLC22A6 | solute carrier family 22 member 6 | The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transc ript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 11 | 62976597 | 62984967 | Human | 352 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732686 | SLC22A7 | solute carrier family 22 member 7 | The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] | 6 | 43295714 | 43305538 | Human | 276 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 732952 | SLC22A8 | solute carrier family 22 member 8 | This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidn ey. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010] | 11 | 62992824 | 63015841 | Human | 378 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1317894 | SLC39A8 | solute carrier family 39 member 8 | This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] | 4 | 102251041 | 102345482 | Human | 369 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736222 | SNN | stannin | Enables metal ion binding activity. Predicted to be involved in response to toxic substance. Located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 11668455 | 11679152 | Human | 97 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1353757 | SQOR | sulfide quinone oxidoreductase | The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [pr ovided by RefSeq, Sep 2012] | 15 | 45631148 | 45691281 | Human | 150 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1603906 | SVOPL | SVOP like | The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016] | 7 | 138594285 | 138701362 | Human | 39 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 69494 | SYNJ2 | synaptojanin 2 | The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediat ed endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] | 6 | 157981296 | 158099176 | Human | 206 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1602315 | TM2D1 | TM2 domain containing 1 | The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been establi shed to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016] | 1 | 61681046 | 61725141 | Human | 75 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1350168 | TPMT | thiopurine S-methyltransferase | This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014] | 6 | 18128311 | 18155169 | Human | 197 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1343349 | UGT2B15 | UDP glucuronosyltransferase family 2 member B15 | This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of si milar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016] | 4 | 68646597 | 68670652 | Human | 179 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1351542 | UGT2B7 | UDP glucuronosyltransferase family 2 member B7 | The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome memb rane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] | 4 | 69051375 | 69112987 | Human | 312 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1602437 | ZFAND2B | zinc finger AN1-type containing 2B | This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encodi ng multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] | 2 | 219206782 | 219209648 | Human | 89 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1315510 | B3GALT5 | beta-1,3-galactosyltransferase 5 | This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this ge ne. [provided by RefSeq, Sep 2017] | 21 | 39612940 | 39673137 | Human | 86 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1346791 | RAC1P1 | Rac family small GTPase 1 pseudogene 1 | | 18 | 24685478 | 24686365 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 1342726 | RAC1P2 | Rac family small GTPase 1 pseudogene 2 | INTERACTS WITH lead diacetate | 4 | 46723670 | 46724607 | Human | 1 | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 1352022 | RAC1P3 | Rac family small GTPase 1 pseudogene 3 | | 13 | 41287506 | 41288460 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 1348059 | RAC1P4 | Rac family small GTPase 1 pseudogene 4 | | X | 137441047 | 137442031 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 5133143 | RAC1P6 | Rac family small GTPase 1 pseudogene 6 | | 7 | 115136576 | 115137162 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 6480980 | RAC1P7 | Rac family small GTPase 1 pseudogene 7 | | 1 | 234026873 | 234027227 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 6480997 | RAC1P8 | Rac family small GTPase 1 pseudogene 8 | | 13 | 61805150 | 61805676 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 8662683 | RAC1P9 | Rac family small GTPase 1 pseudogene 9 | | 7 | 53779749 | 53780263 | Human | | old_gene_name | gene, pseudo, INFERRED [RefSeq] |
| 1605733 | HBEGF | heparin binding EGF like growth factor | Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal t ransduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 140332843 | 140346603 | Human | 402 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
