| 70373 | BAX | BCL2 associated X, apoptosis regulator | The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activ ator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019] | 19 | 48954875 | 48961798 | Human | 3551 | symbol , old_gene_name , COSMIC , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1605964 | TMBIM1 | transmembrane BAX inhibitor motif containing 1 | Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane ; and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025] | 2 | 218274197 | 218292503 | Human | 126 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1602117 | TMBIM4 | transmembrane BAX inhibitor motif containing 4 | Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 66135846 | 66169996 | Human | 75 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 736097 | TMBIM6 | transmembrane BAX inhibitor motif containing 6 | Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of RNA splicing; negative regulation of intracellular signal transduction; and response to L-glutamate. Acts upstream of or within negative regulati on of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Jul 2025] | 12 | 49741557 | 49764934 | Human | 153 | old_gene_name , name , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 12791100 | TMBIM7P | transmembrane BAX inhibitor motif containing 7, pseudogene | INTERACTS WITH aflatoxin B1; sodium arsenite; 6-propyl-2-thiouracil (ortholog) | 7 | 92412550 | 92437314 | Human | 11 | old_gene_name , name | gene, pseudo, VALIDATED [RefSeq] |
| 1312539 | SH3GLB1 | SH3 domain containing GRB2 like, endophilin B1 | This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also b e involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] | 1 | 86704576 | 86748184 | Human | 171 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1315856 | ZBTB24 | zinc finger and BTB domain containing 24 | Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differe ntiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 109462594 | 109483219 | Human | 149 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1319118 | SON | SON DNA and RNA binding protein | This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core p romoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] | 21 | 33543038 | 33577481 | Human | 350 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 1348169 | FAIM2 | Fas apoptotic inhibitory molecule 2 | Predicted to enable calcium channel activity. Involved in regulation of neuron apoptotic process. Acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in Golgi membrane and membrane raft. [provided by Alliance of Genome Resources , Jul 2025] | 12 | 49866896 | 49903900 | Human | 103 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1345873 | GHITM | growth hormone inducible transmembrane protein | Enables calcium:proton antiporter activity. Involved in calcium export from the mitochondrion; inner mitochondrial membrane organization; and negative regulation of release of cytochrome c from mitochondria. Located in endoplasmic reticulum membrane and mitochondrial inner membrane. [provided by All iance of Genome Resources, Jul 2025] | 10 | 84139509 | 84153568 | Human | 140 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1606337 | GRINA | glutamate ionotropic receptor NMDA type subunit associated protein 1 | Predicted to enable calcium channel activity. Predicted to be involved in apoptotic signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reti culum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 143990056 | 143993415 | Human | 141 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1316298 | MOAP1 | modulator of apoptosis 1 | The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexp ressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008] | 14 | 93182199 | 93184897 | Human | 77 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 731070 | AGT | angiotensinogen | The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiol ogically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019] | 1 | 230702523 | 230745583 | Human | 1358 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 731293 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), resp ectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] | 12 | 57623409 | 57633201 | Human | 457 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 731755 | DHCR7 | 7-dehydrocholesterol reductase | This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009] | 11 | 71427287 | 71449043 | Human | 794 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1343567 | F8 | coagulation factor VIII | This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcript s. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] | X | 154835792 | 155022723 | Human | 796 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 732290 | FGFR1 | fibroblast growth factor receptor 1 | The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length r epresentative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] | 8 | 38411143 | 38468635 | Human | 1343 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1348575 | POMT1 | protein O-mannosyltransferase 1 | The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-gird le muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] | 9 | 131502918 | 131523799 | Human | 581 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 736947 | TSC1 | TSC complex subunit 1 | This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] | 9 | 132891349 | 132945378 | Human | 1845 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 736193 | TSC2 | TSC complex subunit 2 | This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signa ling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] | 16 | 2047985 | 2089491 | Human | 4248 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1350991 | WDFY4 | WDFY family member 4 | Predicted to be involved in antigen processing and presentation. Predicted to act upstream of or within with a positive effect on CD8-positive, alpha-beta T cell activation. Predicted to act upstream of or within cellular response to virus. Predicted to be located in early endosome and endoplasmic r eticulum. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 48684873 | 48982956 | Human | 79 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1353095 | BCL2L10 | BCL2 like 10 | The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] | 15 | 52109263 | 52112775 | Human | 122 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1346183 | BID | BH3 interacting domain death agonist | This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by casp ase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020] | 22 | 17734138 | 17774665 | Human | 659 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1347683 | BIK | BCL2 interacting killer | The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survi val-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] | 22 | 43110750 | 43129712 | Human | 234 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1321527 | ING3 | inhibitor of growth family member 3 | The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] | 7 | 120950777 | 120977216 | Human | 111 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1319508 | MTCH1 | mitochondrial carrier 1 | This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identif ied for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012] | 6 | 36968135 | 36986551 | Human | 80 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1347426 | PMAIP1 | phorbol-12-myristate-13-acetate-induced protein 1 | This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family member s, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020] | 18 | 59899996 | 59904305 | Human | 459 | description | gene, protein-coding, VALIDATED [RefSeq] |
