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Aliases for BAX Gene

Aliases for BAX Gene

  • BCL2-Associated X Protein 2 3
  • Bcl-2-Like Protein 4 3 4
  • Bcl2-L-4 3 4
  • BCL2L4 3 4
  • BCL2-Associated X Protein Omega 3
  • Apoptosis Regulator BAX 3
  • Baxdelta2G9omega 3
  • Baxdelta2omega 3
  • Baxdelta2G9 3

External Ids for BAX Gene

Summaries for BAX Gene

Entrez Gene Summary for BAX Gene

  • 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 activator. 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, Jul 2008]

GeneCards Summary for BAX Gene

BAX (BCL2-Associated X Protein) is a Protein Coding gene. Diseases associated with BAX include malignant teratoma and leukemia, acute lymphoblastic. Among its related pathways are TGF-Beta Pathway and TGF-Beta Pathway. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot for BAX Gene

  • Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis.

Tocris Summary for BAX Gene

  • Bcl-2 family proteins regulate and contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four BH (bcl-2 homology) domains. Certain members such as Bcl-2, Bcl-xl and Mcl1 are anti-apoptotic, whilst others are pro-apoptotic. The pro-apoptotic group of Bcl-2 proteins can be further sub-divided into the structurally diverse BH3 only proteins (e.g. Bid, Noxa, Puma and Bad) and the multidomain proteins that share BH1 to 3 (e.g. Bax and Bak). Most Bcl-2 family members contain a C-terminal transmembrane domain that functions to target these proteins to the outer mitochondrial and other intracellular membranes.

Gene Wiki entry for BAX Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAX Gene

Genomics for BAX Gene

Genomic Location for BAX Gene

Start:
48,954,815 bp from pter
End:
48,961,798 bp from pter
Size:
6,984 bases
Orientation:
Plus strand

Genomic View for BAX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BAX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAX Gene

Regulatory Elements for BAX Gene

Transcription factor binding sites by QIAGEN in the BAX gene promoter:

Proteins for BAX Gene

  • Protein details for BAX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07812-BAX_HUMAN
    Recommended name:
    Apoptosis regulator BAX
    Protein Accession:
    Q07812
    Secondary Accessions:
    • A8K4W1
    • P55269
    • Q07814
    • Q07815
    • Q8WZ49
    • Q9NR76
    • Q9NYG7
    • Q9UCZ6
    • Q9UCZ7
    • Q9UQD6

    Protein attributes for BAX Gene

    Size:
    192 amino acids
    Molecular mass:
    21184 Da
    Quaternary structure:
    • Homodimer. Forms higher oligomers under stress conditions. Interacts with BCL2L11. Interaction with BCL2L11 promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c. Forms heterodimers with BCL2, E1B 19K protein, BCL2L1 isoform Bcl-X(L), BCL2L2, MCL1 and A1. Interacts with SH3GLB1 and HN. Interacts with SFN and YWHAZ; the interaction occurs in the cytoplasm. Under stress conditions, JNK-mediated phosphorylation of SFN and YWHAZ, releases BAX to mitochondria. Isoform Sigma interacts with BCL2A1 and BCL2L1 isoform Bcl-X(L). Interacts with RNF144B, which regulates the ubiquitin-dependent stability of BAX. Interacts with CLU under stress conditions that cause a conformation change leading to BAX oligomerization and association with mitochondria. Does not interact with CLU in unstressed cells. Interacts with FAIM2/LFG2. Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37. Interacts with BOP/C22orf29. Interacts (via a C-terminal 33 residues) with NOL3 (via CARD domain); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria.

    Three dimensional structures from OCA and Proteopedia for BAX Gene

    Alternative splice isoforms for BAX Gene

neXtProt entry for BAX Gene

Proteomics data for BAX Gene at MOPED

Post-translational modifications for BAX Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys21

No data available for DME Specific Peptides for BAX Gene

Domains for BAX Gene

UniProtKB/Swiss-Prot:

BAX_HUMAN
Domain:
  • Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.:
    • Q07812
Family:
  • Belongs to the Bcl-2 family.:
    • Q07812
genes like me logo Genes that share domains with BAX: view

No data available for Gene Families for BAX Gene

Function for BAX Gene

Molecular function for BAX Gene

GENATLAS Biochemistry: BCL2-associated X protein,promoting of apoptosis,21kDa,extensively homolog to BCL2,translocated and inserted into the mitochondrial membrane binding permeability transition pore and increasing the release of cytochrome c,leading to cell death after homodimerization with BCL2,modulating CDK2 activation during thymocyte apoptosis,mutated in gastric carcinomas and in endometrial atypical hyperplasia,determinant of chemo-sensitivity in tumor cell-lines,maybe involved in the tumorigenesis of HNPCC with microsatellite instability and in the uterine cancer,not mutated in acquired immunodeficiency syndrome-related non Hodgkin lymphoma
UniProtKB/Swiss-Prot Function: Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis.

Gene Ontology (GO) - Molecular Function for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10753914
GO:0008289 lipid binding IDA 14522999
GO:0015267 channel activity IDA 9219694
GO:0042802 identical protein binding IPI 10620504
GO:0042803 protein homodimerization activity IPI 9111042
genes like me logo Genes that share ontologies with BAX: view
genes like me logo Genes that share phenotypes with BAX: view

Animal Models for BAX Gene

MGI Knock Outs for BAX:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BAX Gene

Localization for BAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAX Gene

Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane.
Isoform Beta: Cytoplasm.
Isoform Gamma: Cytoplasm.
Isoform Delta: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAX Gene COMPARTMENTS Subcellular localization image for BAX gene
Compartment Confidence
cytosol 5
mitochondrion 5
endoplasmic reticulum 4
nucleus 4
cytoskeleton 2
extracellular 2
lysosome 2
plasma membrane 2
vacuole 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IMP 15102863
GO:0005635 nuclear envelope IDA 12925958
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 11912183
genes like me logo Genes that share ontologies with BAX: view

Pathways for BAX Gene

genes like me logo Genes that share pathways with BAX: view

Gene Ontology (GO) - Biological Process for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0001764 neuron migration IEA --
GO:0001776 leukocyte homeostasis --
GO:0001777 T cell homeostatic proliferation IEA --
GO:0001782 B cell homeostasis IEA --
genes like me logo Genes that share ontologies with BAX: view

Compounds for BAX Gene

(19) ApexBio Compounds for BAX Gene

Compound Action Cas Number
2,3-DCPE hydrochloride Selectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro. [418788-90-6]
ABT-199 Selective Bcl-2 inhibitor [1257044-40-8]
ABT-263 (Navitoclax) orally sellecitive inhibitor of Bcl-2 family proteins [923564-51-6]
ABT-737 novel and potent inhibitor of BCL-2 family proteins [852808-04-9]
Apogossypolone (ApoG2) pan Bcl-2 inhibitor [886578-07-0]
AT-101 R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1 [90141-22-3]
Bax channel blocker Potent inhibitor of Bax-mediated mitochondrial cytochrome c release. [335165-68-9]
Bax inhibitor peptide P5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-83-4]
Bax inhibitor peptide V5 Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria [579492-81-2]
Bax inhibitor peptide, negative control Negative control peptide for the Bax inhibitor peptides V5 and P5 [1315378-74-5]
BM-1074 potent and efficacious Bcl-2/Bcl-xL inhibitor [1391108-10-3]
Gambogic Acid activates caspases with EC50 of 0.78-1.64 uM and competitively inhibits Bcl-XL, Bcl-2, Bcl-W, Bcl-B, Bfl-1 and Mcl-1 [2752-65-0]
HA14-1 non-peptidic ligand of a Bcl-2 [65673-63-4]
Marinopyrrole A novel and specific Mcl-1 inhibitor [1227962-62-0]
MIM1 Inhibitor of Mcl-1
Obatoclax mesylate (GX15-070) potently inhibits BCL-2 family [803712-79-0]
Sabutoclax pan-Bcl-2 inhibitor [1228108-65-3]
TW-37 potent small-molecule inhibitor of BCL-2 [877877-35-5]
WEHI-539 high affinity (subnanomolar) and selectivity for BCL-XL [1431866-33-9]

(5) Tocris Compounds for BAX Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic [90141-22-3]
Bax channel blocker Inhibits Bax-mediated mitochondrial cytochrome c release [335165-68-9]
Bax inhibitor peptide V5 Inhibitor of Bax-mediated apoptosis [579492-81-2]
HA14-1 Bcl-2 inhibitor. Induces apoptosis [65673-63-4]
MIM1 Mcl-1 inhibitor; proapoptotic

(139) Novoseek inferred chemical compound relationships for BAX Gene

Compound -log(P) Hits PubMed IDs
dutp 73.6 28
adpribose 72.8 35
mononucleotide 71.4 31
oridonin 71.4 9
noxa 68.6 21
genes like me logo Genes that share compounds with BAX: view

Transcripts for BAX Gene

Unigene Clusters for BAX Gene

BCL2-associated X protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BAX Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: -
SP2: -
SP3:

Relevant External Links for BAX Gene

GeneLoc Exon Structure for
BAX
ECgene alternative splicing isoforms for
BAX

Expression for BAX Gene

mRNA expression in normal human tissues for BAX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAX Gene

This gene is overexpressed in Whole Blood (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAX Gene

SOURCE GeneReport for Unigene cluster for BAX Gene Hs.624291

mRNA Expression by UniProt/SwissProt for BAX Gene

Q07812-BAX_HUMAN
Tissue specificity: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro-myelocytic leukemia, histiocytic lymphoma, Burkitts lymphoma, T-cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines.
genes like me logo Genes that share expressions with BAX: view

Orthologs for BAX Gene

This gene was present in the common ancestor of chordates.

Orthologs for BAX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAX 36
  • 99.83 (n)
  • 99.48 (a)
BAX 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAX 36
  • 94.44 (n)
  • 97.4 (a)
BAX 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAX 36
  • 92.88 (n)
  • 97.4 (a)
BAX 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bax 36
  • 89.58 (n)
  • 92.19 (a)
Bax 16
Bax 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAX 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bax 36
  • 89.58 (n)
  • 91.15 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 32 (a)
OneToMany
-- 37
  • 46 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia bax-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia bax 36
  • 62.06 (n)
  • 63.54 (a)
MGC76049 36
zebrafish
(Danio rerio)
Actinopterygii bax 36
BAX (3 of 5) 37
  • 27 (a)
OneToMany
BAX (5 of 5) 37
  • 20 (a)
OneToMany
baxa 36
  • 58.97 (n)
  • 52.75 (a)
baxa 37
  • 27 (a)
OneToMany
baxa 37
  • 38 (a)
OneToMany
baxb 37
  • 20 (a)
OneToMany
Species with no ortholog for BAX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAX Gene

ENSEMBL:
Gene Tree for BAX (if available)
TreeFam:
Gene Tree for BAX (if available)

Paralogs for BAX Gene

Selected SIMAP similar genes for BAX Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with BAX: view

No data available for Paralogs for BAX Gene

Variants for BAX Gene

Sequence variations from dbSNP and Humsavar for BAX Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs704243 -- 48,961,714(+) GGGAC(A/G)TGGGC utr-variant-3-prime, downstream-variant-500B, nc-transcript-variant
rs905238 -- 48,962,127(+) TCTGT(A/G)CGGGA downstream-variant-500B
rs1009315 -- 48,955,197(+) GATCT(C/G)GGAAG intron-variant
rs1009316 -- 48,955,313(+) ATGCA(C/T)ATAGC intron-variant
rs1010103 -- 48,957,954(-) ATTTC(A/C)CCACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAX Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833856 CNV Loss 17160897
nsv833857 CNV Loss 17160897
nsv912248 CNV Loss 21882294
esv2718694 CNV Deletion 23290073
esv2665637 CNV Deletion 23128226

Relevant External Links for BAX Gene

HapMap Linkage Disequilibrium report
BAX
Human Gene Mutation Database (HGMD)
BAX

Disorders for BAX Gene

(2) OMIM Diseases for BAX Gene (600040)

(89) Novoseek inferred disease relationships for BAX Gene

Disease -log(P) Hits PubMed IDs
tumors 74.9 257
microsatellite instability 74.4 63
cancer 71.9 123
leukemia 64 51
colon cancer 63.7 50

Relevant External Links for BAX

Genetic Association Database (GAD)
BAX
Human Genome Epidemiology (HuGE) Navigator
BAX
Tumor Gene Database (TGDB):
BAX
genes like me logo Genes that share disorders with BAX: view

No data available for UniProtKB/Swiss-Prot for BAX Gene

Publications for BAX Gene

  1. The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients. (PMID: 11912183) Cartron P.F. … Vallette F.M. (Hum. Mol. Genet. 2002) 3 4 23
  2. Association of a novel single nucleotide polymorphism, G(-248)A, in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance. (PMID: 12359369) Saxena A. … Sheridan D.P. (Cancer Lett. 2002) 3 23 49
  3. Humanin peptide suppresses apoptosis by interfering with Bax activation. (PMID: 12732850) Guo B. … Reed J.C. (Nature 2003) 3 4 23
  4. Common polymorphism G(-248)A in the promoter region of the bax gene results in significantly shorter survival in patients with chronic lymphocytic Leukemia once treatment is initiated. (PMID: 15735127) Starczynski J. … Fegan C. (J. Clin. Oncol. 2005) 3 23 49
  5. Clusterin inhibits apoptosis by interacting with activated Bax. (PMID: 16113678) Zhang H. … Wang C.Y. (Nat. Cell Biol. 2005) 3 4 23

Products for BAX Gene

  • Addgene plasmids for BAX

Sources for BAX Gene

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