| 2192 | Bax | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding; heat shock protein binding; protein-containing complex binding; INVOLVED IN cellular respiration; cellular response to hydrogen peroxide; cerebral cortex development; PARTICIPATES IN intrinsic apoptotic pathway; ceramide signaling pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1; acute kidney failure; Acute Lung Injury; FOUND IN cytoplasm; cytosol; mitochondrial membrane; INTERACTS WITH (+)-catechin; (+)-pilocarpine; (+)-sesamin | 1 | 105076472 | 105081906 | Rat | 3541 | symbol , old_gene_name , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 10226 | Bax | BCL2-associated X protein | Enables Hsp70 protein binding activity and identical protein binding activity. Involved in positive regulation of neuron apoptotic process. Acts upstream of or within several processes, including apoptotic signaling pathway; mitochondrion organization; and regulation of apoptotic process. Located in cytosol; endoplasmic reticulum; and mitochondrial outer membrane. Part of BAX complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; ataxia telangiectasia; colon adenocarcinoma; and colorectal cancer. Orthologous to human BAX (BCL2 associated X, apoptosis regulator). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 45111124 | 45116332 | Mouse | 3714 | symbol , old_gene_name , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 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] |
| 9028540 | Bax | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); BH3 domain binding (ortholog); channel activity (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog); PARTICIPATES IN ceramid e signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN BAK complex (ortholog); BAX complex (ortholog); Bcl-2 family protein complex (ortholog) | NW_004955559 | 1695960 | 1700246 | Chinchilla | 423 | symbol , old_gene_name , description | gene, protein-coding, MODEL [RefSeq] |
| 11704027 | BAX | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); BH3 domain binding (ortholog); heat shock protein binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog); PARTICIPATES IN ceramide signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN BAK complex (ortholog); cell periphery (ortholog); cytoplasm (ortholog) | 19 | 45955926 | 45962870 | Bonobo | 418 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 12391987 | BAX | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); BH3 domain binding (ortholog); channel activity (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog); PARTICIPATES IN ceramid e signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN BAX complex (ortholog); Bcl-2 family protein complex (ortholog); cytoplasm (ortholog); INTERACTS WITH spironolactone; toosendanin | 1 | 107423388 | 107426464 | Dog | 452 | symbol , old_gene_name , description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12551199 | Bax | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); heat shock protein binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog ); PARTICIPATES IN ceramide signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); mitochondrial membrane (ortholog) | NW_004936664 | 2968103 | 2973652 | Squirrel | 422 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 14023413 | BAX | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); heat shock protein binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog ); PARTICIPATES IN ceramide signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); mitochondrial membrane (ortholog); INTERACTS WITH 2-deoxy-D-glucose; 3,3',5,5'-tetrabromobisphenol A; 3-acetyldeoxynivalenol | | | | Pig | 491 | symbol , old_gene_name , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 18537741 | BAX | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); heat shock protein binding (ortholog); protein-containing complex binding (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog ); PARTICIPATES IN ceramide signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); mitochondrial membrane (ortholog) | | | | Green Monkey | 423 | symbol , old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 18908494 | Bax | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); BH3 domain binding (ortholog); channel activity (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog); PARTICIPATES IN ceramid e signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN BAK complex (ortholog); BAX complex (ortholog); Bcl-2 family protein complex (ortholog) | | | | Naked Mole-Rat | 421 | symbol , old_gene_name , description | gene, protein-coding, MODEL [RefSeq] |
| 20865862 | BAX | BCL2 associated X, apoptosis regulator | | | | | Green Monkey | | symbol | gene, protein-coding |
| 155250725 | bax | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626124689 | Bax | BCL2 associated X, apoptosis regulator | ENCODES a protein that exhibits BH domain binding (ortholog); BH3 domain binding (ortholog); channel activity (ortholog); INVOLVED IN apoptotic mitochondrial changes (ortholog); apoptotic process (ortholog); apoptotic process involved in blood vessel morphogenesis (ortholog); PARTICIPATES IN ceramid e signaling pathway; intrinsic apoptotic pathway; syndecan signaling pathway; ASSOCIATED WITH abdominal obesity-metabolic syndrome 1 (ortholog); acute kidney failure (ortholog); Acute Lung Injury (ortholog); FOUND IN BAK complex (ortholog); BAX complex (ortholog); Bcl-2 family protein complex (ortholog) | | | | Black Rat | 423 | symbol , old_gene_name , description | gene, protein-coding, MODEL [RefSeq] |
| 155259292 | bax.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155244184 | bax.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1561847 | Bax-ps1 | BCL2 associated X, apoptosis regulator, pseudogene 1 | INTERACTS WITH bisphenol A | 8 | 106525986 | 106526581 | Rat | 1 | symbol , old_gene_name , PhenoGen | gene, protein-coding, MODEL [RefSeq] |
| 1596776 | Bax-ps2 | BCL2-associated X protein, pseudogene 2 | | 10 | 87032488 | 87033310 | Rat | | symbol , old_gene_name , PhenoGen , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 15003497 | Bax-ps2 | BCL2-associated X protein, pseudogene 2 | | | | | Rat | | symbol , PhenoGen | gene, processed_pseudogene |
| 1313355 | Nkx3-1 | NK3 homeobox 1 | Enables several functions, including DNA-binding transcription factor activity; DNA-binding transcription factor binding activity; and MADS box domain binding activity. Involved in several processes, including chordate embryonic development; regulation of DNA-templated transcription; and reproductiv e structure development. Acts upstream of or within several processes, including epithelial cell proliferation involved in salivary gland morphogenesis; morphogenesis of a branching epithelium; and negative regulation of epithelial cell proliferation involved in prostate gland development. Located in nucleus. Is expressed in several structures, including arterial system; central nervous system; genitourinary system; paraxial mesenchyme; and tooth. Used to study prostate cancer. Human ortholog(s) of this gene implicated in hepatocellular carcinoma. Orthologous to human NKX3-1 (NK3 homeobox 1). [provided by Alliance of Genome Resources, Apr 2025] | 14 | 69428141 | 69432107 | Mouse | 338 | old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 728325 | Bax_v1 | BCL2 associated X, apoptosis regulator, variant 1 | INVOLVED IN positive regulation of apoptotic process; PARTICIPATES IN intrinsic apoptotic pathway | | | | Rat | 2 | symbol , old_gene_symbol | gene, splice |
| 728332 | Bax_v2 | BCL2 associated X, apoptosis regulator, variant 2 | PARTICIPATES IN intrinsic apoptotic pathway | | | | Rat | 1 | symbol , old_gene_symbol | gene, splice |
| 12501297 | LOC101963118 | bax inhibitor 1-like | | NW_004936491 | 9047497 | 9079184 | Squirrel | | old_gene_name , name | gene, pseudo, MODEL [RefSeq] |
| 12572798 | LOC101973459 | bax inhibitor 1-like | | NW_004936612 | 971573 | 972276 | Squirrel | | old_gene_name , name | gene, pseudo, MODEL [RefSeq] |
| 12205002 | LOC102153358 | bax inhibitor 1-like | INVOLVED IN apoptotic process (inferred); calcium ion transmembrane transport (inferred); negative regulation of apoptotic process (inferred); FOUND IN membrane (inferred) | 27 | 14754090 | 14755422 | Dog | 11 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18906284 | LOC101716640 | bax inhibitor 1 pseudogene | | | | | Naked Mole-Rat | | name | gene, pseudo, MODEL [RefSeq] |
| 18916114 | LOC106008935 | bax inhibitor 1 pseudogene | | | | | Naked Mole-Rat | | name | gene, pseudo, MODEL [RefSeq] |
| 625869413 | LOC116908053 | apoptosis regulator BAX-like | | | | | Black Rat | | name | gene, pseudo, MODEL [RefSeq] |
| 625995481 | LOC116909471 | apoptosis regulator BAX-like | | | | | Black Rat | | name | gene, protein-coding, MODEL [RefSeq] |
| 626163153 | LOC116911170 | apoptosis regulator BAX-like | | | | | Black Rat | | name | gene, protein-coding, MODEL [RefSeq] |
| 1359409 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (ortholog); INVOLVED IN negative regulation of catalytic activity (ortholog); negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (ortholog); negative regulation of Fas signaling pathway (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (ortholog); Golgi apparatus (ortholog); Golgi membrane (ortholog); INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine | 9 | 83320972 | 83338469 | Rat | 122 | old_gene_name , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1558557 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | Predicted to enable calcium channel activity and death receptor binding activity. Involved in negative regulation of catalytic activity and positive regulation of blood vessel remodeling. Predicted to be located in endosome membrane and lysosomal membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and membrane. Is expressed in esophagus epithelium; heart valve; naris; and stomach. Orthologous to human TMBIM1 (transmembrane BAX inhibitor motif containing 1). [provided by Alliance of Genome Resources, Apr 2025] | 1 | 74327406 | 74343495 | Mouse | 135 | old_gene_name , name , description | gene, protein-coding, VALIDATED [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] |
| 8896549 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (ortholog); INVOLVED IN negative regulation of catalytic activity (ortholog); negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (ortholog); negative regulation of Fas signaling pathway (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (ortholog); Golgi apparatus (ortholog); Golgi membrane (ortholog) | NW_004955453 | 15083179 | 15100197 | Chinchilla | 13 | name | gene, protein-coding, MODEL [RefSeq] |
| 11794358 | TMBIM1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (inferred); INVOLVED IN negative regulation of catalytic activity (ortholog); positive regulation of blood vessel remodeling (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endoplasmic reticulum (inferred); endosome membrane (inferred); Golgi apparatus (inferred) | 2B | 105533578 | 105551969 | Bonobo | 18 | name | gene, protein-coding, MODEL [RefSeq] |
| 12358465 | TMBIM1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (inferred); INVOLVED IN negative regulation of catalytic activity (ortholog); positive regulation of blood vessel remodeling (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (inferred); Golgi apparatus (inferred); Golgi membrane (inferred) | 37 | 24952145 | 24983477 | Dog | 21 | name | gene, protein-coding, MODEL [RefSeq] |
| 12680967 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (inferred); INVOLVED IN negative regulation of catalytic activity (ortholog); positive regulation of blood vessel remodeling (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endoplasmic reticulum (inferred); endosome membrane (inferred); Golgi apparatus (inferred) | NW_004936569 | 803154 | 820000 | Squirrel | 18 | name | gene, protein-coding, MODEL [RefSeq] |
| 14278267 | TMBIM1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (ortholog); INVOLVED IN negative regulation of catalytic activity (ortholog); negative regulation of Fas signaling pathway (ortholog); negative regulation of protein localization to plasma membrane (ortholog); ASSOCIATED WITH cerebrotendinous xa nthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (ortholog); Golgi apparatus (ortholog); Golgi membrane (ortholog) | | | | Pig | 20 | name | gene, protein-coding, MODEL [RefSeq] |
| 18744628 | TMBIM1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (inferred); INVOLVED IN negative regulation of catalytic activity (ortholog); positive regulation of blood vessel remodeling (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endoplasmic reticulum (inferred); endosome membrane (inferred); Golgi apparatus (inferred) | | | | Green Monkey | 18 | name | gene, protein-coding, MODEL [RefSeq] |
| 18934340 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (ortholog); INVOLVED IN negative regulation of catalytic activity (ortholog); negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (ortholog); negative regulation of Fas signaling pathway (ortholog); ASSOCIATED WITH cerebrotendinous xanthomatosis (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (ortholog); Golgi membrane (ortholog); lysosomal membrane (ortholog) | | | | Naked Mole-Rat | 17 | name | gene, protein-coding, MODEL [RefSeq] |
| 626096740 | Tmbim1 | transmembrane BAX inhibitor motif containing 1 | ENCODES a protein that exhibits death receptor binding (ortholog); INVOLVED IN negative regulation of catalytic activity (ortholog); negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (ortholog); negative regulation of Fas signaling pathway (ortholog); ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); FOUND IN endosome membrane (ortholog); Golgi apparatus (ortholog); Golgi membrane (ortholog) | | | | Black Rat | 12 | name | gene, protein-coding, MODEL [RefSeq] |
| 735173 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (ortholog); negative regulation of apoptotic process (ortholog); negative regulation of neuron apoptotic process (ortholog); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); Golgi apparatus (ortholog); Golgi stack (ortholog) ; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; flutamide | 7 | 57604275 | 57618861 | Rat | 79 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1557664 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | Predicted to enable calcium channel activity. Involved in locomotory behavior and negative regulation of neuron apoptotic process. Predicted to be located in Golgi stack. Predicted to be active in membrane. Orthologous to human TMBIM4 (transmembrane BAX inhibito r motif containing 4). [provided by Alliance of Genome Resources, Apr 2025] | 10 | 120044731 | 120060802 | Mouse | 82 | old_gene_name , name , description | gene, protein-coding, PROVISIONAL [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] |
| 8729280 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (ortholog); negative regulation of apoptotic process (ortholog); negative regulation of neuron apoptotic process (ortholog); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); Golgi apparatus (ortholog); Golgi stack (ortholog) | NW_004955458 | 12795484 | 12818277 | Chinchilla | 10 | name | gene, protein-coding, MODEL [RefSeq] |
| 11876568 | TMBIM4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (inferred); negative regulation of apoptotic process (inferred); negative regulation of neuron apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | 12 | 22739658 | 22773228 | Bonobo | 13 | name | gene, protein-coding, MODEL [RefSeq] |
| 12200083 | TMBIM4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN calcium ion transmembrane transport (inferred); locomotory behavior (inferred); negative regulation of apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | 10 | 8643982 | 8670948 | Dog | 15 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12718005 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (inferred); negative regulation of apoptotic process (inferred); negative regulation of neuron apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | NW_004936545 | 4207344 | 4225071 | Squirrel | 13 | name | gene, protein-coding, MODEL [RefSeq] |
| 14142032 | TMBIM4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN calcium ion transmembrane transport (inferred); locomotory behavior (inferred); negative regulation of apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | | | | Pig | 15 | name | gene, protein-coding, MODEL [RefSeq] |
| 18724371 | TMBIM4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (inferred); negative regulation of apoptotic process (inferred); negative regulation of neuron apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | | | | Green Monkey | 13 | name | gene, protein-coding, MODEL [RefSeq] |
| 18912441 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (inferred); negative regulation of apoptotic process (inferred); negative regulation of neuron apoptotic process (inferred); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); Golgi stack (inferred) | | | | Naked Mole-Rat | 13 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 625839716 | Tmbim4 | transmembrane BAX inhibitor motif containing 4 | INVOLVED IN locomotory behavior (ortholog); negative regulation of apoptotic process (ortholog); negative regulation of neuron apoptotic process (ortholog); ASSOCIATED WITH ovarian cyst (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog); Golgi apparatus (ortholog); Golgi stack (ortholog) | | | | Black Rat | 10 | name | gene, protein-coding, MODEL [RefSeq] |
| 3842 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (ortholog); enzyme binding (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN lung development; spermatogenesis; cellular response to unfolded protein (ortholog); ASSOCIATED WITH invasive ductal carcinoma; Reperfus ion Injury; Subarachnoid Hemorrhage; FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene | 7 | 132405217 | 132422492 | Rat | 144 | old_gene_name , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 11405 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | Enables endoribonuclease inhibitor activity and enzyme binding activity. Involved in cellular response to unfolded protein; negative regulation of macromolecule biosynthetic process; and response to endoplasmic reticulum stress. Acts upstream of or within endoplasmic reticulum calcium ion homeostasi s; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; and neuron intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum and mitochondrial membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in head and retina. Orthologous to human TMBIM6 (transmembrane BAX inhibitor motif containing 6). [provided by Alliance of Genome Resources, Apr 2025] | 15 | 99290828 | 99307930 | Mouse | 166 | old_gene_name , name , description | 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] |
| 8968593 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (ortholog); enzyme binding (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN cellular response to unfolded protein (ortholog); endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signalin g pathway in response to endoplasmic reticulum stress (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | NW_004955547 | 335344 | 358503 | Chinchilla | 40 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12015113 | TMBIM6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (inferred); enzyme binding (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum str ess (ortholog); lung development (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) | 12 | 38986844 | 39010307 | Bonobo | 47 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12059348 | TMBIM6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits enzyme binding (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (ortholog); lung development (ortholog); ASS OCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | 27 | 4921606 | 4944830 | Dog | 44 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 12578829 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (inferred); enzyme binding (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum str ess (ortholog); lung development (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) | NW_004936512 | 7427926 | 7448700 | Squirrel | 47 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 14220192 | TMBIM6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (inferred); enzyme binding (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum str ess (ortholog); lung development (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred) | | | | Pig | 48 | old_gene_name , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18692483 | TMBIM6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (inferred); enzyme binding (inferred); ubiquitin protein ligase binding (inferred); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum str ess (ortholog); lung development (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN endoplasmic reticulum membrane (ortholog) | | | | Green Monkey | 47 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18919558 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (ortholog); lung develo pment (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | | | | Naked Mole-Rat | 43 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 625854035 | Tmbim6 | transmembrane BAX inhibitor motif containing 6 | ENCODES a protein that exhibits endoribonuclease inhibitor activity (ortholog); enzyme binding (ortholog); ubiquitin protein ligase binding (ortholog); INVOLVED IN cellular response to unfolded protein (ortholog); endoplasmic reticulum calcium ion homeostasis (ortholog); intrinsic apoptotic signalin g pathway in response to endoplasmic reticulum stress (ortholog); ASSOCIATED WITH cervical squamous cell carcinoma (ortholog); invasive ductal carcinoma (ortholog); prostate carcinoma (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | | | | Black Rat | 40 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 1306626 | Tmbim7 | transmembrane BAX inhibitor motif containing 7 | INVOLVED IN calcium ion transmembrane transport (inferred); FOUND IN membrane (inferred); INTERACTS WITH 6-propyl-2-thiouracil; bisphenol A; indole-3-methanol | 4 | 31421371 | 31454319 | Rat | 16 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1315350 | Tmbim7 | transmembrane BAX inhibitor motif containing 7 | Predicted to enable calcium channel activity. Predicted to be active in Golgi apparatus and membrane. Is expressed in ductus deferens; epididymis; ileum; prostate gland; and testis. Orthologous to human TMBIM7P (transmembrane BAX inhibitor motif containing 7, ps eudogene). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 3707004 | 3729865 | Mouse | 19 | old_gene_name , name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 12424115 | TMBIM7 | transmembrane BAX inhibitor motif containing 7 | INVOLVED IN calcium ion transmembrane transport (inferred); FOUND IN membrane (inferred) | 14 | 18005913 | 18039573 | Dog | 5 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18934226 | Tmbim7 | transmembrane BAX inhibitor motif containing 7 | FOUND IN membrane (inferred) | | | | Naked Mole-Rat | 2 | old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 12178103 | LOC476118 | transmembrane BAX inhibitor motif containing 6 pseudogene | | 19 | 31320201 | 31321080 | Dog | | old_gene_name , name | gene, pseudo, INFERRED [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] |
| 12495612 | LOC101971390 | protein lifeguard 1 | FOUND IN membrane (inferred) | NW_004936803 | 1365717 | 1385841 | Squirrel | 2 | old_gene_name | gene, protein-coding, MODEL [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] |
| 1558124 | Ahcyl2 | S-adenosylhomocysteine hydrolase-like 2 | Predicted to enable adenosylhomocysteinase activity. Predicted to be involved in S-adenosylmethionine cycle. Located in cytosol; intracellular membrane-bounded organelle; and neuron projection. Is expressed in several structures, including alimentary system; central nervous system; nose; respiratory system; and urinary system. Orthologous to human AHCYL2 (adenosylhomocysteinase like 2). [provided by Alliance of Genome Resources, Apr 2025] | 6 | 29768378 | 29912309 | Mouse | 94 | GenBank Protein | gene, protein-coding, VALIDATED [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] |
| 731294 | B4galnt1 | beta-1,4-N-acetyl-galactosaminyl transferase 1 | Enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Acts upstream of or within several processes, including determination of adult lifespan; lipid storage; and motor behavior. Predicted to be located in Gol gi membrane. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 26. Orthologous to human B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1). [provided by Alliance of Genome Resources, Jul 2025] | 10 | 127001025 | 127008209 | Mouse | 186 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 1617884 | Calhm1 | calcium homeostasis modulator 1 | Enables voltage-gated calcium channel activity. Involved in ATP export; protein heterooligomerization; and sensory perception of taste. Located in basolateral plasma membrane and plasma membrane raft. Is expressed in forebrain; gut; and male reproductive gland or organ. Orthologous to human CALHM1 ( calcium homeostasis modulator 1). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 47129474 | 47132613 | Mouse | 65 | GenBank Protein | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12185951 | CD14 | CD14 molecule | ENCODES a protein that exhibits lipopolysaccharide binding (inferred); lipopolysaccharide immune receptor activity (inferred); lipoteichoic acid binding (inferred); INVOLVED IN cellular response to lipopolysaccharide (ortholog); cellular response to lipoteichoic acid (ortholog); positive regulation of cytokine production (ortholog); PARTICIPATES IN cardiovascular system disease pathway; innate immune response pathway; Toll-like receptor signaling pathway; ASSOCIATED WITH Acute Liver Failure (ortholog); allergic disease (ortholog); asthma (ortholog); FOUND IN cell surface (ortholog); extracellular space (ortholog) | 2 | 35790505 | 35792967 | Dog | 133 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
| 14297975 | COL1A1 | collagen type I alpha 1 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); extracellular matrix structural constituent conferring tensile strength (inferred); identical protein binding (inferred); INVOLVED IN blood vessel development (ortholog); bone trabecula formation (ortholog); cart ilage development involved in endochondral bone morphogenesis (ortholog); PARTICIPATES IN acenocoumarol pharmacodynamics pathway; alteplase pharmacodynamics pathway; aminocaproic acid pharmacodynamics pathway; ASSOCIATED WITH aggressive periodontitis (ortholog); alcoholic hepatitis (ortholog); aortic valve insufficiency (ortholog); FOUND IN collagen trimer (ortholog); cytoplasm (ortholog); extracellular space (ortholog); INTERACTS WITH Bisphenol A diglycidyl ether; deoxynivalenol; dexamethasone | | | | Pig | 303 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
| 14128732 | COL1A2 | collagen type I alpha 2 chain | ENCODES a protein that exhibits extracellular matrix structural constituent (inferred); identical protein binding (inferred); metal ion binding (inferred); INVOLVED IN bone mineralization (ortholog); cellular response to aldehyde (ortholog); cellular response to amino acid stimulus (ortholog); PARTI CIPATES IN endothelin signaling pathway; interleukin-4 signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Acute Liver Failure (ortholog); ARTERIAL DISSECTION (ortholog); BCARD syndrome (ortholog); FOUND IN collagen trimer (inferred); collagen type I trimer (inferred); endoplasmic reticulum (inferred); INTERACTS WITH deoxynivalenol; resveratrol | | | | Pig | 119 | GenBank Protein | gene, protein-coding, VALIDATED [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] |
| 1557152 | Edn3 | endothelin 3 | This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleave d again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013] | 2 | 174602412 | 174625835 | Mouse | 195 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 2581 | Esr1 | estrogen receptor 1 | ENCODES a protein that exhibits DNA binding; enzyme binding; estrogen binding; INVOLVED IN baculum development; cellular response to estradiol stimulus; cellular response to estrogen stimulus; PARTICIPATES IN estrogen signaling pathway; insulin-like growth factor signaling pathway; phosphatidylinosi tol 3-kinase-Akt signaling pathway; ASSOCIATED WITH abnormal body size; abnormal female reproductive system morphology; abnormal male reproductive system morphology; ASSOCIATED WITH cryptorchidism; Diabetic Nephropathies; Experimental Diabetes Mellitus; FOUND IN nucleus; perikaryon; perinuclear region of cytoplasm; INTERACTS WITH (R,R,R)-alpha-tocopherol; (S)-naringenin; 1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane | 1 | 43511685 | 43904454 | Rat | 2346 | GenBank Protein | gene, protein-coding, VALIDATED [RefSeq] |
| 10551 | Esr1 | estrogen receptor 1 (alpha) | This gene encodes an estrogen receptor, a member of the nuclear hormone family of intracellular receptors. The encoded protein, activated by the sex hormone estrogen, is a transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Es trogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Similar genes in human have been implicated in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] | 10 | 4561989 | 4955633 | Mouse | 2845 | 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] |
| 14052636 | LOC100517502 | small EDRK-rich factor 1 | INVOLVED IN amyloid fibril formation (inferred); protein destabilization (inferred); FOUND IN cytosol (inferred); nucleus (inferred); protein-containing complex (inferred) | | | | Pig | 7 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
| 32732799 | LOC117979948 | blood group Rh(CE) polypeptide | INVOLVED IN ammonium transmembrane transport (ortholog); erythrocyte development (ortholog); multicellular organismal-level iron ion homeostasis (ortholog); ASSOCIATED WITH congenital hemolytic anemia (ortholog); Rh isoimmunization (ortholog); FOUND IN membrane (ortholog) | 1 | 24563794 | 24701364 | Bonobo | 8 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
| 32728213 | LOC117979952 | RH-like protein IC | | 1 | 24473973 | 24530783 | Bonobo | | GenBank Protein | gene, protein-coding, MODEL [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] |
| 61797 | Prkn | parkin RBR E3 ubiquitin protein ligase | ENCODES a protein that exhibits protein kinase binding; protein-containing complex binding; actin binding (ortholog); INVOLVED IN cellular response to hydrogen sulfide; cellular response to L-glutamate; cellular response to L-glutamine; PARTICIPATES IN altered mitochondrial autophagy pathway; mitoch ondrial autophagy pathway; Parkinson's disease pathway; ASSOCIATED WITH Experimental Liver Cirrhosis; metabolic dysfunction-associated steatohepatitis; Parkinson's disease; FOUND IN axon; cytoplasm; cytosol; INTERACTS WITH 1,3-dichloropropan-2-ol; 3-chloropropane-1,2-diol; 3-methyladenine | 1 | 51236410 | 52430242 | Rat | 852 | GenBank Protein | gene, protein-coding, PROVISIONAL [RefSeq] |
| 13844401 | SLC30A6 | solute carrier family 30 member 6 | ENCODES a protein that exhibits zinc:proton antiporter activity (ortholog); INVOLVED IN Golgi to endosome transport (ortholog); zinc ion transport (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); FOUND IN apical plasma membrane (ortholog); cytoplasm (ortholog) | | | | Pig | 27 | GenBank Protein | gene, protein-coding, PROVISIONAL [RefSeq] |
| 14012246 | SMN1 | survival of motor neuron 1, telomeric | ENCODES a protein that exhibits fibroblast growth factor binding (ortholog); identical protein binding (ortholog); INVOLVED IN axonogenesis (ortholog); chemical synaptic transmission (ortholog); DNA-templated transcription termination (ortholog); PARTICIPATES IN apoptotic cell death pathway; ASSOCIA TED WITH adult spinal muscular atrophy (ortholog); childhood spinal muscular atrophy (ortholog); genetic disease (ortholog); FOUND IN COPI-coated vesicle (ortholog); cytoplasmic ribonucleoprotein granule (ortholog); cytosol (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 101 | GenBank Protein | gene, protein-coding, PROVISIONAL [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] |
| 18763787 | TYR | tyrosinase | ENCODES a protein that exhibits copper ion binding (ortholog); identical protein binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN cell population proliferation (ortholog); melanin biosynthetic process (ortholog); pigmentation (ortholog); PARTICIPATES IN alkaptonuria path way; disulfiram pharmacodynamics pathway; dopamine beta-hydroxylase deficiency pathway; ASSOCIATED WITH Albinism (ortholog); basal cell carcinoma (ortholog); breast cancer (ortholog); FOUND IN cytoplasm (ortholog); melanosome (ortholog); perinuclear region of cytoplasm (ortholog) | | | | Green Monkey | 83 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
| 1303107 | Vkorc1 | vitamin K epoxide reductase complex, subunit 1 | ENCODES a protein that exhibits vitamin-K-epoxide reductase (warfarin-insensitive) activity; vitamin-K-epoxide reductase (warfarin-sensitive) activity; INVOLVED IN regulation of blood coagulation; blood coagulation (ortholog); bone development (ortholog); PARTICIPATES IN acenocoumarol pharmacodynami cs pathway; alteplase pharmacodynamics pathway; aminocaproic acid pharmacodynamics pathway; ASSOCIATED WITH Aortic Calcification; warfarin sensitivity; Aortic Rupture (ortholog); FOUND IN endoplasmic reticulum (ortholog); endoplasmic reticulum lumen (ortholog); endoplasmic reticulum membrane (ortholog); INTERACTS WITH (+)-schisandrin B; 1,4-dithiothreitol; 17alpha-ethynylestradiol | 1 | 191932969 | 191935490 | Rat | 242 | 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] |
| 13873821 | YIPF4 | Yip1 domain family member 4 | INVOLVED IN endoplasmic reticulum to Golgi vesicle-mediated transport (inferred); FOUND IN endomembrane system (inferred); endoplasmic reticulum (inferred); Golgi apparatus (inferred) | | | | Pig | 17 | GenBank Protein | gene, protein-coding, MODEL [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] |
