ENSG00000087088


Homo sapiens

Features
Gene ID: ENSG00000087088
  
Biological name :BAX
  
Synonyms : BAX / BCL2 associated X, apoptosis regulator / Q07812
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 48954815
Gene end: 48961798
  
Corresponding Affymetrix probe sets: 208478_s_at (Human Genome U133 Plus 2.0 Array)   211833_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000441413
Ensembl peptide - ENSP00000426184
Ensembl peptide - ENSP00000426328
Ensembl peptide - ENSP00000263262
Ensembl peptide - ENSP00000293288
Ensembl peptide - ENSP00000346461
Ensembl peptide - ENSP00000348871
Ensembl peptide - ENSP00000375744
Ensembl peptide - ENSP00000389971
NCBI entrez gene - 581     See in Manteia.
OMIM - 600040
RefSeq - XM_017027077
RefSeq - NM_001291428
RefSeq - NM_001291429
RefSeq - NM_001291430
RefSeq - NM_001291431
RefSeq - NM_004324
RefSeq - NM_138761
RefSeq - NM_138763
RefSeq - NM_138764
RefSeq Peptide - NP_620119
RefSeq Peptide - NP_001278360
RefSeq Peptide - NP_004315
RefSeq Peptide - NP_620116
RefSeq Peptide - NP_620118
RefSeq Peptide - NP_001278357
RefSeq Peptide - NP_001278358
RefSeq Peptide - NP_001278359
swissprot - H0YA56
swissprot - K4JQN1
swissprot - Q07812
swissprot - I6LPK7
Ensembl - ENSG00000087088
  
Related genetic diseases (OMIM): 114500 - Colorectal cancer, somatic, 114500
  613065 - T-cell acute lymphoblastic leukemia, somatic, 613065
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 baxaENSDARG00000089129Danio rerio
 baxaENSDARG00000020623Danio rerio
 baxbENSDARG00000030881Danio rerio
 BX511080.1ENSDARG00000089995Danio rerio
 BaxENSMUSG00000003873Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002475  Bcl2-like
 IPR020717  Apoptosis regulator, Bcl-2, BH1 motif, conserved site
 IPR020726  Apoptosis regulator, Bcl-2, BH2 motif, conserved site
 IPR020728  Apoptosis regulator, Bcl-2, BH3 motif, conserved site
 IPR026298  Blc2 family
 IPR026304  Apoptosis regulator BAX
 IPR036834  Blc2-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001541 ovarian follicle development IEA
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0001776 leukocyte homeostasis IEA
 biological_processGO:0001777 T cell homeostatic proliferation IEA
 biological_processGO:0001782 B cell homeostasis IEA
 biological_processGO:0001783 B cell apoptotic process IDA
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001836 release of cytochrome c from mitochondria IEA
 biological_processGO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0002262 myeloid cell homeostasis IEA
 biological_processGO:0002352 B cell negative selection IEA
 biological_processGO:0002358 B cell homeostatic proliferation IEA
 biological_processGO:0002904 positive regulation of B cell apoptotic process IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006687 glycosphingolipid metabolic process IEA
 biological_processGO:0006808 regulation of nitrogen utilization IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
 biological_processGO:0006987 obsolete activation of signaling protein activity involved in unfolded protein response TAS
 biological_processGO:0007281 germ cell development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007548 sex differentiation IEA
 biological_processGO:0008053 mitochondrial fusion IDA
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IEA
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA
 biological_processGO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c IDA
 biological_processGO:0008637 apoptotic mitochondrial changes IDA
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0009611 response to wounding IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0009651 response to salt stress IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0010212 response to ionizing radiation IEA
 biological_processGO:0010248 establishment or maintenance of transmembrane electrochemical gradient IDA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0010524 positive regulation of calcium ion transport into cytosol IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0021854 hypothalamus development IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0032461 positive regulation of protein oligomerization IDA
 biological_processGO:0032469 endoplasmic reticulum calcium ion homeostasis TAS
 biological_processGO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration IEA
 biological_processGO:0032976 release of matrix enzymes from mitochondria IDA
 biological_processGO:0033137 negative regulation of peptidyl-serine phosphorylation IEA
 biological_processGO:0033599 regulation of mammary gland epithelial cell proliferation IEA
 biological_processGO:0034644 cellular response to UV IEA
 biological_processGO:0035108 limb morphogenesis IEA
 biological_processGO:0035234 ectopic germ cell programmed cell death IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0043496 regulation of protein homodimerization activity IDA
 biological_processGO:0043497 regulation of protein heterodimerization activity IPI
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043525 positive regulation of neuron apoptotic process IEA
 biological_processGO:0043653 mitochondrial fragmentation involved in apoptotic process IDA
 biological_processGO:0045136 development of secondary sexual characteristics IEA
 biological_processGO:0046666 retinal cell programmed cell death IEA
 biological_processGO:0048087 positive regulation of developmental pigmentation IEA
 biological_processGO:0048147 negative regulation of fibroblast proliferation IEA
 biological_processGO:0048515 spermatid differentiation IEA
 biological_processGO:0048597 post-embryonic camera-type eye morphogenesis IEA
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 biological_processGO:0051259 protein complex oligomerization IDA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051402 neuron apoptotic process IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0051881 regulation of mitochondrial membrane potential IDA
 biological_processGO:0060011 Sertoli cell proliferation IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0060058 positive regulation of apoptotic process involved in mammary gland involution IEA
 biological_processGO:0060068 vagina development IEA
 biological_processGO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
 biological_processGO:0070242 thymocyte apoptotic process IEA
 biological_processGO:0070584 mitochondrion morphogenesis IEA
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IEA
 biological_processGO:0090200 positive regulation of release of cytochrome c from mitochondria IDA
 biological_processGO:0097190 apoptotic signaling pathway IDA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IDA
 biological_processGO:0097192 extrinsic apoptotic signaling pathway in absence of ligand IEA
 biological_processGO:0097193 intrinsic apoptotic signaling pathway IDA
 biological_processGO:0097296 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway IEA
 biological_processGO:1900103 positive regulation of endoplasmic reticulum unfolded protein response IMP
 biological_processGO:1901030 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway TAS
 biological_processGO:1902108 regulation of mitochondrial membrane permeability involved in apoptotic process IEA
 biological_processGO:1902110 positive regulation of mitochondrial membrane permeability involved in apoptotic process IEA
 biological_processGO:1902262 apoptotic process involved in blood vessel morphogenesis IEA
 biological_processGO:1902263 apoptotic process involved in embryonic digit morphogenesis IEA
 biological_processGO:1902445 regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IEA
 biological_processGO:1902512 positive regulation of apoptotic DNA fragmentation IMP
 biological_processGO:1903896 positive regulation of IRE1-mediated unfolded protein response TAS
 biological_processGO:1990117 B cell receptor apoptotic signaling pathway IDA
 biological_processGO:2001234 negative regulation of apoptotic signaling pathway IEA
 biological_processGO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
 biological_processGO:2001244 positive regulation of intrinsic apoptotic signaling pathway IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005757 mitochondrial permeability transition pore complex IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 cellular_componentGO:0046930 pore complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071944 cell periphery IDA
 cellular_componentGO:0097136 Bcl-2 family protein complex IDA
 cellular_componentGO:0097144 BAX complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008289 lipid binding IDA
 molecular_functionGO:0015267 channel activity IDA
 molecular_functionGO:0030544 Hsp70 protein binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0051087 chaperone binding IEA
 molecular_functionGO:0051434 BH3 domain binding IPI


Pathways (from Reactome)
Pathway description
Release of apoptotic factors from the mitochondria
Activation, translocation and oligomerization of BAX
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Transcriptional regulation by RUNX2
NTRK3 as a dependence receptor


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000175793 SFN / P31947 / stratifin  / reaction / complex
 ENSG00000087088 BAX / Q07812 / BCL2 associated X, apoptosis regulator  / reaction / complex
 ENSG00000015475 BID / P55957 / BH3 interacting domain death agonist  / complex / reaction






 

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