BAX Gene (Protein Coding)

BCL2 Associated X, Apoptosis Regulator

GC19P048954
GIFtS:
49
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, th... See more...

Aliases for BAX Gene

Aliases for BAX Gene

  • BCL2 Associated X, Apoptosis Regulator 2 3 5
  • BCL2 Associated X Protein 2 3
  • Apoptosis Regulator BAX 3 4
  • Bcl-2-Like Protein 4 3 4
  • Bcl2-L-4 3 4
  • BCL2L4 3 4
  • BCL2-Associated X Protein Omega 3
  • BCL2-Associated X Protein 2
  • 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, Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BAX include Precursor T-Cell Acute Lymphoblastic Leukemia and Colorectal Cancer. Among its related pathways are Endometrial cancer and Overview of nanoparticle effects. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is MCL1.

UniProtKB/Swiss-Prot Summary for BAX Gene

  • Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). 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

Additional gene information for BAX Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAX Gene

Genomics for BAX Gene

GeneHancer (GH) Regulatory Elements for BAX Gene

Promoters and enhancers for BAX Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAX gene promoter:
  • STAT1

Genomic Locations for BAX Gene

Genomic Locations for BAX Gene
chr19:48,954,815-48,961,798
(GRCh38/hg38)
Size:
6,984 bases
Orientation:
Plus strand
chr19:49,458,072-49,465,055
(GRCh37/hg19)
Size:
6,984 bases
Orientation:
Plus strand

Genomic View for BAX Gene

Genes around BAX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAX Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BAX Gene

Proteins for BAX Gene

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  • 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. Forms heterooligomers with BAK (PubMed:29531808). Interacts with BCL2L11. Interaction with BCL2L11 promotes BAX oligomerization and association with mitochondrial membranes, with subsequent release of cytochrome c. Forms heterodimers with BCL2, 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 RTL10/BOP. Interacts (via a C-terminal 33 residues) with NOL3 (via CARD domain); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. Interacts with GIMAP3/IAN4 and GIMAP5/IAN5; this interaction is increased, when cells initiate apoptosis upon IL2 withdrawal (PubMed:16509771).
    • (Microbial infection) Interacts with adenovirus E1B 19K protein; this interaction blocks BAX oligomerization (PubMed:11462023).
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37.
    • (Microbial infection) Interacts with enterovirus protein 2B; this interaction activates BAX-induced apoptosis.

    Three dimensional structures from OCA and Proteopedia for BAX Gene

    Alternative splice isoforms for BAX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAX Gene

Protein Expression for BAX Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BAX Gene

  • Ubiquitination at Lys21
  • Modification sites at PhosphoSitePlus

Other Protein References for BAX Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BAX Gene

Domains & Families for BAX Gene

Gene Families for BAX Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transporters

Protein Domains for BAX Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BAX Gene

GenScript: Design optimal peptide antigens:
  • Bcl-2-like protein 4 (BAX_HUMAN)
  • Bax protein (Q5ZPJ0_HUMAN)
  • Bax protein (Q5ZPJ1_HUMAN)
  • BCL2-associated X protein (Q8WXU1_HUMAN)

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

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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Molecular function for BAX Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). 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.
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

Phenotypes From GWAS Catalog for BAX Gene

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:0030544 Hsp70 protein binding IEA --
GO:0042802 identical protein binding IPI 10620504
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:
  • Bax Bax<tm1Sjk>
  • Bax Bax<tm1Ofxa>
  • Bax Bax<tm1Dlo>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for BAX

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 outer 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAX gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IMP 15102863
GO:0005635 nuclear envelope IDA 12925958
GO:0005737 cytoplasm IEA,IDA 16302269
GO:0005739 mitochondrion IDA,IEA 11912183
GO:0005741 mitochondrial outer membrane TAS --
genes like me logo Genes that share ontologies with BAX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BAX Gene

Pathways & Interactions for BAX Gene

PathCards logo

SuperPathways for BAX Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
2 Apoptosis Modulation and Signaling
Apoptosis
.41
Apoptosis Modulation and Signaling
.41
Apoptosis Signaling Pathways
.36
Death Receptor Signaling
.35
Apoptosis and survival Apoptotic TNF-family pathways
.35
Apoptosis
.31
3 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
4 Endometrial cancer
Colorectal cancer
.50
Endometrial cancer
.50
Pancreatic cancer
.46
Chronic myeloid leukemia
.45
Thyroid cancer
.36
5 Glioma
Glioma
.50
Non-small cell lung cancer
.50
Melanoma
.46
Endocrine resistance
.31
genes like me logo Genes that share pathways with BAX: view

Pathways by source for BAX Gene

3 Sino Biological pathways for BAX Gene
1 R&D Systems pathway for BAX Gene
2 Tocris pathways for BAX Gene
39 Qiagen pathways for BAX Gene
  • 14-3-3 and Regulation of BAD Activity
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Antioxidant Action of Vitamin-C
  • Apoptosis through Death Receptors
1 Cell Signaling Technology pathway for BAX Gene
3 GeneTex pathways for BAX Gene

SIGNOR curated interactions for BAX Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

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 IEA --
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

Products:

  1. Drug

(81) Drugs for BAX Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT-101 Approved, Investigational Pharma BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors 74
Gossypol Investigational Pharma PAF inhibitor;anti-fertility and anti-cancer 24
BAM7 Pharma BAX activator,direct and selective, Selective Bax activator; induces Bax-mediated apoptosis 0
Bax channel blocker Pharma Inhibitor of Bax-mediated mitochondrial cytochrome c release 0
Bax inhibitor peptide P5 Pharma Bax inhibitor 0

(68) 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

(4) Tocris Compounds for BAX Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic 90141-22-3
BAM 7 Selective Bax activator; induces Bax-mediated apoptosis 331244-89-4
SMBA 1 High affinity and selective activator of Bax 906440-37-7
TW 37 Bcl-2 inhibitor; induces apoptosis 877877-35-5

(8) ApexBio Compounds for BAX Gene

Compound Action Cas Number
AT-101 BH3-mimetic,gossypol enantiomer 90141-22-3
BAM7 BAX activator,direct and selective 331244-89-4
Bax channel blocker Inhibitor of Bax-mediated mitochondrial cytochrome c release 335165-68-9
Bax inhibitor peptide P5 Bax inhibitor 579492-83-4
Bax inhibitor peptide V5 Bax inhibitor 579492-81-2
Bax inhibitor peptide, negative control Peptide inhibit Bax translocation to mitochondria 1315378-74-5
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
PRIMA-1 BAX inhibitor 5608-24-2
genes like me logo Genes that share compounds with BAX: view

Transcripts for BAX Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BAX Gene

(9) REFSEQ mRNAs :
(23) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for BAX

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

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAX Gene

mRNA expression in normal human tissues for BAX Gene
mRNA expression by GTEx for BAX GenemRNA expression by BioGPS 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, MaxQB, and MOPED for BAX Gene



Protein tissue co-expression partners for BAX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BAX Gene:

BAX

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, Burkitt's 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.

Evidence on tissue expression from TISSUES for BAX Gene

  • Nervous system(4.5)
  • Skin(4.4)
  • Muscle(2.9)
  • Intestine(2.7)
  • Blood(2.4)
  • Lung(2.4)
  • Stomach(2.4)
  • Heart(2.3)
  • Kidney(2.3)
  • Liver(2.3)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BAX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • reproductive
  • urinary
Regions:
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with BAX: view

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
chimpanzee
(Pan troglodytes)
 Mammalia BAX 33 32
  • 99.83 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BAX 33 32
  • 94.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia BAX 33 32
  • 92.88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bax 17 33 32
  • 89.58 (n)
rat
(Rattus norvegicus)
 Mammalia Bax 32
  • 89.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia BAX 33
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 46 (a)
 OneToMany
-- 33
  • 32 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia bax 32
  • 62.06 (n)
MGC76049 32
African clawed frog
(Xenopus laevis)
 Amphibia