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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
  • Baxdelta2G9omega 3
  • Baxdelta2omega 3
  • Baxdelta2G9 3

External Ids for BAX Gene

Previous GeneCards Identifiers for BAX Gene

  • GC19P050116
  • GC19P049826
  • GC19P054135
  • GC19P054149
  • GC19P049458
  • GC19P045835

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 colon adenocarcinoma. Among its related pathways are TGF-Beta Pathway and Pathways in cancer. 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 contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.

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

Regulatory Elements for BAX Gene

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BAX Gene

Chromosome:
19
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

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

  • Ubiquitination at Lys 21
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BAX Gene

Domains & Families for BAX Gene

Gene Families for BAX Gene

Suggested Antigen Peptide Sequences for BAX Gene

Graphical View of Domain Structure for InterPro Entry

Q07812

UniProtKB/Swiss-Prot:

BAX_HUMAN :
  • 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.
  • Belongs to the Bcl-2 family.
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.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BAX: view

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 9027312
GO:0008289 lipid binding IDA 14522999
GO:0015267 channel activity IDA 9219694
GO:0031072 heat shock protein binding IEA --
GO:0032403 protein complex binding IEA --
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:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BAX

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
mitochondrion 5
endoplasmic reticulum 4
nucleus 4
plasma membrane 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 & Interactions for BAX Gene

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

PCR Array Products

SIGNOR curated interactions for BAX Gene

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

Drugs & Compounds for BAX Gene

(69) Drugs for BAX Gene - From: NovoSeek, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Experimental, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 758
Celecoxib Approved, Investigational Pharma Inhibition, Inhibitor Selective cyclooxygenase-2 (COX-2) inhibitor 395
Chlorambucil Approved Pharma 52
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Cytarabine Approved, Investigational Pharma 995

(78) Additional Compounds for BAX Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AT 101
90141-22-3
SMBA 1
906440-37-7
1 methyl 4 phenylpyridinium
2-Chlorodeoxyadenosine
2-Hydroxycinnamaldehyde
genes like me logo Genes that share compounds with BAX: view

Drug Products

Transcripts for BAX Gene

Unigene Clusters for BAX Gene

BCL2-associated X protein:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BAX

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for BAX Gene

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for BAX Gene

This gene is overexpressed in Bone (24.6) and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BAX: view

Protein tissue co-expression partners for BAX Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BAX Gene

Orthologs for BAX Gene

This gene was present in the common ancestor of chordates.

Orthologs for BAX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAX 35
  • 94.44 (n)
  • 97.4 (a)
BAX 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAX 35
  • 92.88 (n)
  • 97.4 (a)
BAX 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bax 35
  • 89.58 (n)
  • 92.19 (a)
Bax 16
Bax 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAX 35
  • 99.83 (n)
  • 99.48 (a)
BAX 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bax 35
  • 89.58 (n)
  • 91.15 (a)
oppossum
(Monodelphis domestica)
Mammalia BAX 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 32 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bax 35
  • 62.06 (n)
  • 63.54 (a)
MGC76049 35
African clawed frog
(Xenopus laevis)
Amphibia bax-A 35
zebrafish
(Danio rerio)
Actinopterygii bax 35
baxa 35
  • 58.97 (n)
  • 52.75 (a)
BAX (3 of 5) 36
  • 27 (a)
OneToMany
BAX (5 of 5) 36
  • 20 (a)
OneToMany
baxa 36
  • 27 (a)
OneToMany
baxa 36
  • 38 (a)
OneToMany
baxb 36
  • 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

(4) 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/G/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

Variation tolerance for BAX Gene

Residual Variation Intolerance Score: 24.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAX Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAX Gene

Disorders for BAX Gene

MalaCards: The human disease database

(42) MalaCards diseases for BAX Gene - From: OMIM, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
malignant teratoma
  • primary malignant extragonadal teratoma
colon adenocarcinoma
  • adenocarcinoma of colon
ovary adenocarcinoma
  • ovarian adenocarcinoma
breast adenocarcinoma
  • mammary adenocarcinoma
leukemia, acute lymphoblastic
  • leukemia, t-cell acute lymphocytic, somatic
- elite association
Search BAX in MalaCards View complete list of genes associated with diseases

Relevant External Links for BAX

Genetic Association Database (GAD)
BAX
Human Genome Epidemiology (HuGE) Navigator
BAX
Tumor Gene Database (TGDB):
BAX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAX
genes like me logo Genes that share disorders with BAX: view

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

Publications for BAX Gene

  1. Combination of p53 codon 72 polymorphism and inactive p53 mutation predicts chemosensitivity to 5-fluorouracil in colorectal cancer. (PMID: 19810096) Tominaga T. … Yamaue H. (Int. J. Cancer 2010) 23 67
  2. Inhibition of peptidyl-prolyl cis/trans isomerase Pin1 induces cell cycle arrest and apoptosis in vascular smooth muscle cells. (PMID: 19904610) Lv L. … Zhang J. (Apoptosis 2010) 23 67
  3. Aloe-emodin induces apoptosis of human nasopharyngeal carcinoma cells via caspase-8-mediated activation of the mitochondrial death pathway. (PMID: 19942342) Lin M.L. … Chen S.S. (Cancer Lett. 2010) 23 67
  4. Combinational treatment of gap junctional activator and tamoxifen in breast cancer cells. (PMID: 19966541) Gakhar G. … Nguyen T.A. (Anticancer Drugs 2010) 23 67
  5. Molecular details of Bax activation, oligomerization, and membrane insertion. (PMID: 20008353) Bleicken S. … Bordignon E. (J. Biol. Chem. 2010) 23 67

Products for BAX Gene

  • Addgene plasmids for BAX

Sources for BAX Gene

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