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BAX (BCL2-associated X protein)

Written2009-05Hellinida Thomadaki, Andreas Scorilas
Department of Biochemistry, Molecular Biology, University of Athens, 157 01, Panepistimiopolis, Athens, Greece

(Note : for Links provided by Atlas : click)

Identity

Alias_namesBCL2-associated X protein
BCL2 associated X protein
Alias_symbol (synonym)BCL2L4
Other alias
HGNC (Hugo) BAX
LocusID (NCBI) 581
Atlas_Id 128
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49458117 and ends at 49465055 bp from pter ( according to hg19-Feb_2009)  [Mapping BAX.png]
Local_order Orientation: Plus Strand.
Fusion genes
(updated 2016)
BAX (19q13.33) / DHDH (19q13.33)BAX (19q13.33) / HMGA1 (6p21.31)BAX (19q13.33) / MINOS1 (1p36.13)
BAX (19q13.33) / NUCB1 (19q13.33)BAX (19q13.33) / PTPRO (12p12.3)

DNA/RNA

Description The BAX gene, with 6.939 bases in length, consists of 6 exons and 5 intervening introns.
Transcription The BAX gene is characterized by 5 protein coding transcripts (alpha/psi, beta, delta, epsilon, sigma). Bax-beta encodes the longest isoform (891 bp) of the gene. BAX-alpha/Bax-psi variant is 888 bp in length and codes for a protein isoform that possesses a shorter and different C terminus, as compared with the isoform BAX-beta. The third variant (BAX-delta), which is 741 bp in length, lacks exon 3, whereas it retains the functionally critical C-terminal membrane anchorage region, as well as the BCL2 homology 1 and 2 (BH1 and BH2) domains, although it has a shorter and different C terminus, in comparison with BAX-beta. The fourth identified variant of BAX, which is designated as BAX-epsilon, is 986 bp in length because it contains an extra fragment within the coding region, as well as a distinct 3' coding region and 3' UTR, resulting in a distinct BAX isoform with a shorter and distinct C terminus, as compared with BAX-beta. The fifth identified variant of BAX, BAX-sigma, is 849 bp in length and has also a shorter and different C terminus, when compared with the isoform beta.
Pseudogene Not identified so far.

Protein

Note The BAX gene encodes for a 21 kDa protein, named BAX-alpha. It was the first death-inducing member of the BCL2 family to be identified, and it was detected as a protein co-purified with BCL2 in immunoprecipitation studies. The BH3 domain of BAX is essential for its homodimerization and its heterodimerization with BCL2 and BCL-XL. Furthermore, the protein contains a hydrophobic C-terminal region essential for membrane targeting, while BH1 and BH2 domains show homology to pore-forming proteins that contribute to apoptosis. In addition to BAX-alpha, which is the major protein product of the whole gene, BAX undergoes alternative splicing, resulting in the production of distinct protein isoforms. The tumour suppressor p53 is a transcriptional regulator of BAX, since the promoter of the BAX gene possesses four regions with high homology to the consensus p53 binding sites.
Description The BAX belongs to the BCL2 family of proteins. It is composed of 192 amino acids (21184 kDa), with a calculated molecular mass of 21.184 kDa. The BAX protein exists as a monomer, a homodimer, or as a heterodimer with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), MCL1 and BCL2A1/A1. It also interacts with SH3GLB1 and HN. It contains one BH3 homology domain.
Localisation BAX protein has been reported to be localized in the mitochondria, mitochondrial permeability transition pore complex, mitochondrial outer membrane, endoplasmic reticulum membrane and cytoplasm.
Function BAX protein heterodimerizes either with members of the BCL2 family of proteins or with tyrosine kinases enabling them it to display its proapoptotic function within the cell. It is also implicated in the loss of mitochondrial membrane potential and the release of cytochrome c.
Homology Human BAX shares 99.5% amino acid identity with Pan troglodytes, 97.4% identity with Canis lupus familiaris, 96.4% identity with Bos Taurus, 92.2% identity with Mus musculus, 91.2% identity with Rattus norvegicus and 52.7% identity with Danio rerio. In addition, BAX protein presents high homology to the BCL2 protein, containing the conserved regions BH1, BH2 and BH3.

Mutations

Note One regulatory type of mutation has been identified according to which a guanine substituting adenosine substitution at position 125 (G125A) in the BAX promoter is associated with higher stage of chronic lymphocytic leukemia (CLL) and failure to respond to treatment in CLL patients. Additionally, 110 SNPs, with uknown clinical association and the following IDs, have been reported in Entrez SNP database: rs62125987, rs62125961, rs61473366, rs61415800, rs60900019, rs59878749, rs59152877, rs57453473, rs57028628, rs56251427, rs56251427, rs55692456, rs55692456, rs36101119, rs36096807, rs36017265, rs35946201, rs35630245, rs35475300, rs35258702, rs34873472, rs34124134, rs34043541, rs28624947, rs28450536, rs12983717, rs12976339, rs12976283, rs12975003, rs11671610, rs11669164, rs11669162, rs11668424, rs11668008, rs11667351, rs11400412, rs11358529, rs11302449, rs10644606, rs7508566, rs7259013, rs7255991, rs7255559, rs4645904, rs4645903, rs4645902, rs4645903, rs4645902, rs4645901, rs4645900, rs4645899, rs4645898, rs4645897, rs4645896, rs4645895, rs4645894, rs4645893, rs4645891, rs4645890, rs4645889, rs4645888, rs4645887, rs4645886, rs4645885, rs4645884, rs4645883, rs4645882, rs4645881, rs4645880, rs4645879, rs4645878, rs4309503, rs3817074, rs3817073, rs2387583, rs1985882, rs1974820, rs1805419, rs1805418, rs1805417, rs1805416, rs1075531, rs1057369, rs1010104, rs1010103, rs1009316, rs1009315, rs905238, rs704243.

Implicated in

Note
  
Entity Various cancers and diseases
Disease Colorectal cancer, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia (CLL), B cell chronic lymphocytic leukemia, osteomyelitis.
Prognosis BAX mutations have been found to be associated with positive prognosis in Dukes B2 patients, concerning survival.
The G(-248)A polymorphism in the promoter region of the BAX gene has been associated with reduced BAX expression, advanced disease stage, reduced treatment response and short overall survival in B-cell chronic lymphocytic leukemia (CLL).
Polymorphisms were found for BAX, caused by variation in nucleotide A repeat number at position 360 in the 5'-region of BAX gene. These allelic frequencies of BAX polymorphism were significantly different between males and females and therefore associated with gender-based heamatocrite (HCT) differences.
Substitution of the nucleotide G-->A at position -248 in the BAX gene was more frequent in patients with osteomyelitis and was associated with a longer lifespan of their peripheral blood neutrophils, probably possessing a significant role in the pathogenesis of osteomyelitis.
In cases of malignancies, the concentration of BAX protein in cancer cells is reduced. In addition, p53- deficient mice show reduced BAX levels, ultimately developing T-cell lymphoma.
Reduction of BAX expression levels is negatively associated with many cancers outcome. It is associated with a variety of adverse prognostic factors such as poor response to radio- and chemotherapy, advanced stage, lymph node metastasis, and reduced disease-free and overall survival in variety cancer types, such as colorectal, pancreatic, breast, head and neck, prostate, small cell lung cancer and gynecological (ovarian) malignancies. More specifically, the enhanced expression of BAX protein is a positive prognostic factor for pancreatic cancer and sensitizes human pancreatic cancer cells to apoptosis induced by chemotherapeutic agents. In the case of stage II colon cancer, treated only with surgery, BAX protein expression may be a predictor for prognosis. In ovarian cancer, BAX protein may have a predictive potential in taxane-platinum-treated patients. Moreover, in resected non-small cell lung cancer, low expression of BAX implies poor prognosis. In addition, in patients with advanced esophageal cancer, treated with chemoradiotherapy, reduced expression levels of BAX predict poor prognosis. Low expression of BAX was also significantly associated with poor PFS and OS in nasopharyngeal cancer patients.
In lung cancer, BAX is translocated to the nucleus, enhancing tumour development. Furthermore, mutational analysis of the gene in cases of lung cancer patients revealed the presence of a silent point mutation in codon 184 (TCG>TCA), as well as intronic mutations.
In T cells and endometrium of patients with acute lymphoblastic leukaemia, frameshift mutations have been detected in the BAX gene.
It is a common observation in cases of gastrointestinal cancer, the detection of two specific missense mutations of the BAX gene in codon 169 (Thr > Ala or Thr > Met), which cause inhibition of the proapoptotic activity of the protein and enhance the development of cancer.
Various chemotherapeutic treatments act via up-regulation of the BAX gene to block tumour progression.
BAX is highly expressed in HL-60 but it was found to be hardly expressed in HL-CR cells, a C2-ceramide-resistant HL-60 subline, which has been recently established. These cells showed reduced response to a variety of anticancer drugs including ceramide, doxorubicin, etoposide and cytosine arabinoside.
Hybrid/Mutated Gene Not identified so far.
Abnormal Protein Not identified so far.
  

Bibliography

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PMID 18948948
 
Low expression of Bax predicts poor prognosis in resected non-small cell lung cancer patients with non-squamous histology.
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PMID 18772168
 
Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers.
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PMID 16380996
 
Low expression of Bax predicts poor prognosis in patients with locally advanced esophageal cancer treated with definitive chemoradiotherapy.
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PMID 9843949
 
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PMID 19221769
 
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PMID 18783338
 
Proapoptotic BAX and BAK: a requisite gateway to mitochondrial dysfunction and death.
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PMID 11326099
 
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PMID 17289999
 
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PMID 17404017
 
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PMID 16059649
 
Overexpression of Bax sensitizes human pancreatic cancer cells to apoptosis induced by chemotherapeutic agents.
Xu ZW, Friess H, Buchler MW, Solioz M.
Cancer Chemother Pharmacol. 2002 Jun;49(6):504-10. Epub 2002 Mar 12.
PMID 12107556
 
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Yin XM, Oltvai ZN, Korsmeyer SJ.
Nature. 1994 May 26;369(6478):321-3.
PMID 8183370
 
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PMID 14714449
 
Clusterin inhibits apoptosis by interacting with activated Bax.
Zhang H, Kim JK, Edwards CA, Xu Z, Taichman R, Wang CY.
Nat Cell Biol. 2005 Sep;7(9):909-15. Epub 2005 Aug 21.
PMID 16113678
 
Role of BAX in the apoptotic response to anticancer agents.
Zhang L, Yu J, Park BH, Kinzler KW, Vogelstein B.
Science. 2000 Nov 3;290(5493):989-92.
PMID 11062132
 
TP53, BCL-2 and BAX analysis in 199 ovarian cancer patients treated with taxane-platinum regimens.
Ziolkowska-Seta I, Madry R, Kraszewska E, Szymanska T, Timorek A, Rembiszewska A, Kupryjanczyk J.
Gynecol Oncol. 2009 Jan;112(1):179-84. Epub 2008 Oct 19.
PMID 18937971
 

Citation

This paper should be referenced as such :
Thomadaki, H ; Scorilas, A
BAX (BCL2-associated X protein)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):356-360.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BAXID128ch19q13.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  del(13q) in chronic lymphocytic leukemia
Follicular lymphoma (FL)
t(14;18)(q32;q21) IGH/BCL2::t(2;18)(p11;q21) IGK/BCL2::t(18;22)(q21;q11) IGL/BCL2


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Colon: Colorectal adenocarcinoma
Penile tumors: an overview


External links

Nomenclature
HGNC (Hugo)BAX   959
Cards
AtlasBAXID128ch19q13
Entrez_Gene (NCBI)BAX  581  BCL2-associated X protein
AliasesBCL2L4
GeneCards (Weizmann)BAX
Ensembl hg19 (Hinxton)ENSG00000087088 [Gene_View]  chr19:49458117-49465055 [Contig_View]  BAX [Vega]
Ensembl hg38 (Hinxton)ENSG00000087088 [Gene_View]  chr19:49458117-49465055 [Contig_View]  BAX [Vega]
ICGC DataPortalENSG00000087088
TCGA cBioPortalBAX
AceView (NCBI)BAX
Genatlas (Paris)BAX
WikiGenes581
SOURCE (Princeton)BAX
Genetics Home Reference (NIH)BAX
Genomic and cartography
GoldenPath hg19 (UCSC)BAX  -     chr19:49458117-49465055 +  19q13.3-q13.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BAX  -     19q13.3-q13.4   [Description]    (hg38-Dec_2013)
EnsemblBAX - 19q13.3-q13.4 [CytoView hg19]  BAX - 19q13.3-q13.4 [CytoView hg38]
Mapping of homologs : NCBIBAX [Mapview hg19]  BAX [Mapview hg38]
OMIM600040   
Gene and transcription
Genbank (Entrez)AF007826 AF247393 AF250190 AI565203 AJ417988
RefSeq transcript (Entrez)NM_001291428 NM_001291429 NM_001291430 NM_001291431 NM_004324 NM_138761 NM_138762 NM_138763 NM_138764
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_012191 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)BAX
Cluster EST : UnigeneHs.624291 [ NCBI ]
CGAP (NCI)Hs.624291
Alternative Splicing GalleryENSG00000087088
Gene ExpressionBAX [ NCBI-GEO ]   BAX [ EBI - ARRAY_EXPRESS ]   BAX [ SEEK ]   BAX [ MEM ]
Gene Expression Viewer (FireBrowse)BAX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)581
GTEX Portal (Tissue expression)BAX
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07812   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07812  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07812
Splice isoforms : SwissVarQ07812
PhosPhoSitePlusQ07812
Domaine pattern : Prosite (Expaxy)BCL2_FAMILY (PS50062)    BH1 (PS01080)    BH2 (PS01258)    BH3 (PS01259)   
Domains : Interpro (EBI)BAX    Bcl2-like    Bcl2_BH1_motif_CS    Bcl2_BH2_motif_CS    Bcl2_BH3_motif_CS    Blc2_fam   
Domain families : Pfam (Sanger)Bcl-2 (PF00452)   
Domain families : Pfam (NCBI)pfam00452   
Conserved Domain (NCBI)BAX
DMDM Disease mutations581
Blocks (Seattle)BAX
PDB (SRS)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
PDB (PDBSum)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
PDB (IMB)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
PDB (RSDB)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
Structural Biology KnowledgeBase1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
SCOP (Structural Classification of Proteins)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
CATH (Classification of proteins structures)1F16    2G5B    2K7W    2LR1    3PK1    3PL7    4BD2    4BD6    4BD7    4BD8    4BDU    4UF2    4ZIE    4ZIF    4ZIG    4ZIH    4ZII   
SuperfamilyQ07812
Human Protein AtlasENSG00000087088
Peptide AtlasQ07812
HPRD02498
IPIIPI00443773   IPI00444945   IPI00445503   IPI00439209   IPI00071059   IPI00885178   IPI00885203   IPI00845474   
Protein Interaction databases
DIP (DOE-UCLA)Q07812
IntAct (EBI)Q07812
FunCoupENSG00000087088
BioGRIDBAX
STRING (EMBL)BAX
ZODIACBAX
Ontologies - Pathways
QuickGOQ07812
Ontology : AmiGOovarian follicle development  neuron migration  T cell homeostatic proliferation  B cell homeostasis  B cell apoptotic process  kidney development  release of cytochrome c from mitochondria  protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  blood vessel remodeling  myeloid cell homeostasis  B cell negative selection  B cell homeostatic proliferation  positive regulation of B cell apoptotic process  protein binding  nucleus  nucleus  nuclear envelope  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  mitochondrial permeability transition pore complex  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cytosol  glycosphingolipid metabolic process  regulation of nitrogen utilization  apoptotic process  apoptotic process  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  transformed cell apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  activation of signaling protein activity involved in unfolded protein response  inner mitochondrial membrane organization  outer mitochondrial membrane organization  germ cell development  aging  mitochondrial fusion  lipid binding  extrinsic apoptotic signaling pathway via death domain receptors  intrinsic apoptotic signaling pathway in response to DNA damage  activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c  apoptotic mitochondrial changes  fertilization  response to toxic substance  response to salt stress  establishment or maintenance of transmembrane electrochemical gradient  response to gamma radiation  channel activity  membrane  viral process  hypothalamus development  cerebral cortex development  heat shock protein binding  negative regulation of protein binding  protein complex binding  positive regulation of protein oligomerization  endoplasmic reticulum calcium ion homeostasis  negative regulation of endoplasmic reticulum calcium ion concentration  release of matrix enzymes from mitochondria  negative regulation of peptidyl-serine phosphorylation  regulation of mammary gland epithelial cell proliferation  glial cell apoptotic process  cellular response to UV  ectopic germ cell programmed cell death  response to cocaine  odontogenesis of dentin-containing tooth  response to drug  identical protein binding  protein homodimerization activity  protein homodimerization activity  regulation of apoptotic process  positive regulation of apoptotic process  regulation of protein homodimerization activity  regulation of protein heterodimerization activity  negative regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  mitochondrial fragmentation involved in apoptotic process  development of secondary sexual characteristics  cellular respiration  retinal cell programmed cell death  response to copper ion  pore complex  protein heterodimerization activity  positive regulation of developmental pigmentation  negative regulation of fibroblast proliferation  perinuclear region of cytoplasm  spermatid differentiation  post-embryonic camera-type eye morphogenesis  response to axon injury  homeostasis of number of cells within a tissue  chaperone binding  protein oligomerization  protein homooligomerization  positive regulation of release of sequestered calcium ion into cytosol  neuron apoptotic process  response to corticosterone  BH3 domain binding  BH3 domain binding  regulation of mitochondrial membrane potential  Sertoli cell proliferation  retina development in camera-type eye  positive regulation of apoptotic process involved in mammary gland involution  vagina development  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  extracellular exosome  thymocyte apoptotic process  mitochondrion morphogenesis  intrinsic apoptotic signaling pathway by p53 class mediator  positive regulation of release of cytochrome c from mitochondria  Bcl-2 family protein complex  BAX complex  apoptotic signaling pathway  extrinsic apoptotic signaling pathway  extrinsic apoptotic signaling pathway in absence of ligand  intrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of endoplasmic reticulum unfolded protein response  positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  apoptotic process involved in patterning of blood vessels  apoptotic process involved in embryonic digit morphogenesis  regulation of mitochondrial membrane permeability involved in programmed necrotic cell death  positive regulation of apoptotic DNA fragmentation  positive regulation of IRE1-mediated unfolded protein response  B cell receptor apoptotic signaling pathway  negative regulation of apoptotic signaling pathway  positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIovarian follicle development  neuron migration  T cell homeostatic proliferation  B cell homeostasis  B cell apoptotic process  kidney development  release of cytochrome c from mitochondria  protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  blood vessel remodeling  myeloid cell homeostasis  B cell negative selection  B cell homeostatic proliferation  positive regulation of B cell apoptotic process  protein binding  nucleus  nucleus  nuclear envelope  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  mitochondrial permeability transition pore complex  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cytosol  glycosphingolipid metabolic process  regulation of nitrogen utilization  apoptotic process  apoptotic process  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  transformed cell apoptotic process  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  activation of signaling protein activity involved in unfolded protein response  inner mitochondrial membrane organization  outer mitochondrial membrane organization  germ cell development  aging  mitochondrial fusion  lipid binding  extrinsic apoptotic signaling pathway via death domain receptors  intrinsic apoptotic signaling pathway in response to DNA damage  activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c  apoptotic mitochondrial changes  fertilization  response to toxic substance  response to salt stress  establishment or maintenance of transmembrane electrochemical gradient  response to gamma radiation  channel activity  membrane  viral process  hypothalamus development  cerebral cortex development  heat shock protein binding  negative regulation of protein binding  protein complex binding  positive regulation of protein oligomerization  endoplasmic reticulum calcium ion homeostasis  negative regulation of endoplasmic reticulum calcium ion concentration  release of matrix enzymes from mitochondria  negative regulation of peptidyl-serine phosphorylation  regulation of mammary gland epithelial cell proliferation  glial cell apoptotic process  cellular response to UV  ectopic germ cell programmed cell death  response to cocaine  odontogenesis of dentin-containing tooth  response to drug  identical protein binding  protein homodimerization activity  protein homodimerization activity  regulation of apoptotic process  positive regulation of apoptotic process  regulation of protein homodimerization activity  regulation of protein heterodimerization activity  negative regulation of neuron apoptotic process  positive regulation of neuron apoptotic process  mitochondrial fragmentation involved in apoptotic process  development of secondary sexual characteristics  cellular respiration  retinal cell programmed cell death  response to copper ion  pore complex  protein heterodimerization activity  positive regulation of developmental pigmentation  negative regulation of fibroblast proliferation  perinuclear region of cytoplasm  spermatid differentiation  post-embryonic camera-type eye morphogenesis  response to axon injury  homeostasis of number of cells within a tissue  chaperone binding  protein oligomerization  protein homooligomerization  positive regulation of release of sequestered calcium ion into cytosol  neuron apoptotic process  response to corticosterone  BH3 domain binding  BH3 domain binding  regulation of mitochondrial membrane potential  Sertoli cell proliferation  retina development in camera-type eye  positive regulation of apoptotic process involved in mammary gland involution  vagina development  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  extracellular exosome  thymocyte apoptotic process  mitochondrion morphogenesis  intrinsic apoptotic signaling pathway by p53 class mediator  positive regulation of release of cytochrome c from mitochondria  Bcl-2 family protein complex  BAX complex  apoptotic signaling pathway  extrinsic apoptotic signaling pathway  extrinsic apoptotic signaling pathway in absence of ligand  intrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of endoplasmic reticulum unfolded protein response  positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  apoptotic process involved in patterning of blood vessels  apoptotic process involved in embryonic digit morphogenesis  regulation of mitochondrial membrane permeability involved in programmed necrotic cell death  positive regulation of apoptotic DNA fragmentation  positive regulation of IRE1-mediated unfolded protein response  B cell receptor apoptotic signaling pathway  negative regulation of apoptotic signaling pathway  positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  positive regulation of intrinsic apoptotic signaling pathway  
Pathways : BIOCARTAHypoxia and p53 in the Cardiovascular system [Genes]    Role of Mitochondria in Apoptotic Signaling [Genes]    Regulation of BAD phosphorylation [Genes]    Apoptotic Signaling in Response to DNA Damage [Genes]    Ceramide Signaling Pathway [Genes]    p53 Signaling Pathway [Genes]   
Pathways : KEGGp53 signaling pathway    Protein processing in endoplasmic reticulum    Apoptosis    Neurotrophin signaling pathway    Non-alcoholic fatty liver disease (NAFLD)    Amyotrophic lateral sclerosis (ALS)    Huntington's disease    Prion diseases    Tuberculosis    Hepatitis B    HTLV-I infection    Pathways in cancer    Viral carcinogenesis    Colorectal cancer   
REACTOMEQ07812 [protein]
REACTOME Pathways114294 [pathway]   6803204 [pathway]   6804114 [pathway]   
NDEx NetworkBAX
Atlas of Cancer Signalling NetworkBAX
Wikipedia pathwaysBAX
Orthology - Evolution
OrthoDB581
GeneTree (enSembl)ENSG00000087088
Phylogenetic Trees/Animal Genes : TreeFamBAX
HOVERGENQ07812
HOGENOMQ07812
Homologs : HomoloGeneBAX
Homology/Alignments : Family Browser (UCSC)BAX
Gene fusions - Rearrangements
Fusion : MitelmanBAX/DHDH [19q13.33/19q13.33]  
Fusion: TCGABAX 19q13.33 DHDH 19q13.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAX
dbVarBAX
ClinVarBAX
1000_GenomesBAX 
Exome Variant ServerBAX
ExAC (Exome Aggregation Consortium)BAX (select the gene name)
Genetic variants : HAPMAP581
Genomic Variants (DGV)BAX [DGVbeta]
DECIPHER (Syndromes)19:49458117-49465055  ENSG00000087088
CONAN: Copy Number AnalysisBAX 
Mutations
ICGC Data PortalBAX 
TCGA Data PortalBAX 
Broad Tumor PortalBAX
OASIS PortalBAX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBAX
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BAX
DgiDB (Drug Gene Interaction Database)BAX
DoCM (Curated mutations)BAX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BAX (select a term)
intoGenBAX
NCG5 (London)BAX
Cancer3DBAX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600040   
Orphanet
MedgenBAX
Genetic Testing Registry BAX
NextProtQ07812 [Medical]
TSGene581
GENETestsBAX
Huge Navigator BAX [HugePedia]
snp3D : Map Gene to Disease581
BioCentury BCIQBAX
ClinGenBAX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD581
Chemical/Pharm GKB GenePA25269
Clinical trialBAX
Miscellaneous
canSAR (ICR)BAX (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBAX
EVEXBAX
GoPubMedBAX
iHOPBAX
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Apr 12 11:28:18 CEST 2017

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