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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 Gastric cancer and Human cytomegalovirus infection. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BAK1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for BAX Gene

Genomics for BAX Gene

GeneHancer (GH) Regulatory Elements for BAX Gene

Promoters and enhancers for BAX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J048953 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 473 2.7 SP1 CC2D1A MNT SIX5 CBFA2T2 NKRF POLR2A ZNF121 ZNF384 ZNF687 BAX PRR12 SNRNP70 GRWD1 PIH1D1 SNORD35A PTOV1-AS2 KDELR1 NUP62 RPS11
GH19J049874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.2 +921.9 921919 5.2 SP1 CC2D1A ZFX ELF3 MNT SIX5 CBFA2T2 ZNF148 NKRF POLR2A PNKP AKT1S1 PIR46791 TBC1D17 NUP62 POLD1 PTOV1-AS2 SNORD35A IRF3 ALDH16A1
GH19J049494 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +544.2 544229 9.7 SP1 ZFX ELF3 CC2D1A CTCF MNT SIX5 NKRF POLR2A MLLT1 RPS11 SNORD35B MIR150 GC19P049577 PRR12 RPL13A SNRNP70 PIH1D1 ALDH16A1 CPT1C
GH19J048866 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11 -86.7 -86725 3 CC2D1A ZKSCAN8 CBFA2T2 MLLT1 GTF2F1 ZSCAN21 CDC5L MCM2 TRIM24 SP7 PLEKHA4 PRR12 GRWD1 PIH1D1 SNRNP70 PTOV1-AS2 SNORD35A KDELR1 IRF3 SNORD35B
GH19J048898 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.8 -54.6 -54573 3.8 HDGF ZFX SP1 CC2D1A ELF3 MNT SIX5 POLR2A MLLT1 BACH1 NUCB1 TULP2 PPP1R15A PLEKHA4 BAX FTL DBP SEC1P IRF3 NUCB1-AS1
- 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 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. 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

neXtProt entry for BAX Gene

Post-translational modifications for BAX Gene

  • Ubiquitination at posLast=2121
  • Modification sites at PhosphoSitePlus

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

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

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<tm1Dlo>
  • Bax Bax<tm1Ofxa>

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for BAX - Now 50% OFF >
  • * BAX as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BAX tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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 IDA,IEA 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

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

Pathways by source for BAX Gene

1 R&D Systems pathway for BAX Gene
2 Tocris pathways for BAX Gene
1 Cell Signaling Technology pathway for BAX Gene
3 GeneTex pathways for BAX Gene

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 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

(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 72
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

Drug Products

Transcripts for BAX Gene

mRNA/cDNA for BAX Gene

Unigene Clusters for BAX Gene

BCL2-associated X protein:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for BAX - Now 50% OFF >
  • * BAX as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * BAX tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 35 34
  • 99.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAX 35 34
  • 94.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BAX 35 34
  • 92.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bax 17 35 34
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Bax 34
  • 89.58 (n)
oppossum
(Monodelphis domestica)
Mammalia BAX 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 46 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bax 34
  • 62.06 (n)
MGC76049 34
African clawed frog
(Xenopus laevis)
Amphibia bax-A 34
zebrafish
(Danio rerio)
Actinopterygii baxa 35 35 34
  • 58.97 (n)
OneToMany
BAX (3 of 5) 35
  • 27 (a)
OneToMany
baxb 35
  • 20 (a)
OneToMany
BAX (5 of 5) 35
  • 20 (a)
OneToMany
bax 34
Species where no ortholog for BAX was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BAX: view image

Paralogs for BAX Gene

Paralogs for BAX Gene

(4) SIMAP similar genes for BAX Gene using alignment to 7 proteins:

  • BAX_HUMAN
  • H0YA56_HUMAN
  • I6LPK7_HUMAN
  • K4JQN1_HUMAN
  • Q5ZPJ0_HUMAN
  • Q5ZPJ1_HUMAN
  • Q8WXU1_HUMAN
genes like me logo Genes that share paralogs with BAX: view

Variants for BAX Gene

Sequence variations from dbSNP and Humsavar for BAX Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs398122513 pathogenic, T-cell acute lymphoblastic leukemia, A T-cell acute lymphoblastic leukemia cell line 48,955,799(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs398122840 pathogenic, T-cell acute lymphoblastic leukemia, Carcinoma of colon 48,955,714(+) GGGGGGGG/G/GGGGGGG/GGGGGGGGG coding_sequence_variant, frameshift, initiator_codon_variant, intron_variant, non_coding_transcript_variant
VAR_013576 A Burkitt lymphoma p.Gly108Val
rs1000548611 -- 48,961,828(+) C/T downstream_transcript_variant
rs1000626610 -- 48,955,274(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3618n100 CNV gain 25217958
esv2665637 CNV deletion 23128226
esv2718694 CNV deletion 23290073
esv3556515 CNV deletion 23714750
nsv1114023 CNV deletion 24896259
nsv1130734 CNV deletion 24896259
nsv833856 CNV loss 17160897
nsv833857 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for BAX Gene

Residual Variation Intolerance Score: 24.5% 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)

Additional Variant Information for BAX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAX
Human Gene Mutation Database (HGMD)
BAX

SNP Genotyping and Copy Number Assay Products

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

Disorders for BAX Gene

MalaCards: The human disease database

(47) MalaCards diseases for BAX Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
colorectal cancer
  • crc
acute t cell leukemia
  • precursor t lymphoblastic leukemia
lymphoma
  • lymphoid cancer
colon adenocarcinoma
  • adenocarcinoma of colon
- elite association - COSMIC cancer census association via MalaCards
Search BAX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulatory factor for Bax and apoptosis activation. (PMID: 20300062) Benard G … Karbowski M (The EMBO journal 2010) 3 4 23 58
  2. Humanin peptide suppresses apoptosis by interfering with Bax activation. (PMID: 12732850) Guo B … Reed JC (Nature 2003) 3 4 23 58
  3. Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. (PMID: 8358790) Oltvai ZN … Korsmeyer SJ (Cell 1993) 2 3 4 58
  4. PLEKHN1 promotes apoptosis by enhancing Bax-Bak hetro-oligomerization through interaction with Bid in human colon cancer. (PMID: 29531808) Kuriyama S … Tanaka M (Cell death discovery 2018) 3 4 58
  5. Human Bop is a novel BH3-only member of the Bcl-2 protein family. (PMID: 23055042) Zhang X … Tang H (Protein & cell 2012) 3 4 58

Products for BAX Gene