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BAX Gene

protein-coding   GIFtS: 72
GCID: GC19P049458

BCL2-Associated X Protein

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BCL2-Associated X Protein1 2     bcl2-L-42
Bcl-2-Like Protein 42 3     BCL2-Associated X Protein Omega2
BCL2L42 3     BCL2-Associated X Protein Transcript Variant Delta22
Apoptosis Regulator BAX2     Bcl2-L-43

External Ids:    HGNC: 9591   Entrez Gene: 5812   Ensembl: ENSG000000870887   OMIM: 6000405   UniProtKB: Q078123   

Export aliases for BAX gene to outside databases

Previous GC identifers: GC19P050116 GC19P049826 GC19P054135 GC19P054149 GC19P045835


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ovary adenocarcinoma. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812
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

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 (Bcl-2-associated X protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAX gene promoter:
         STAT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAX promoter sequence
   Search Chromatin IP Primers for BAX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3-q13.4   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3-q13.4

BAX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAX gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049458:  view genomic region     (about GC identifiers)

Start:
49,458,072 bp from pter      End:
49,465,055 bp from pter
Size:
6,984 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BAX

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812 (See protein sequence)
Recommended Name: Apoptosis regulator BAX  
Size: 192 amino acids; 21184 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for BAX (see all 11):
1F16 (3D)        2G5B (3D)        2K7W (3D)        2LR1 (3D)        3PK1 (3D)        3PL7 (3D)    
Secondary accessions: A8K4W1 P55269 Q07814 Q07815 Q8WZ49 Q9NR76 Q9NYG7 Q9UCZ6 Q9UCZ7 Q9UQD6
Alternative splicing: 8 isoforms:  Q07812-1   Q07812-2, Q07814-1   Q07812-3, Q07815-1   Q07812-4, P55269-1   Q07812-5   Q07812-6   Q07812-7   Q07812-8   

Explore the universe of human proteins at neXtProt for BAX: NX_Q07812

Explore proteomics data for BAX at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21
  • Modification sites at PhosphoSitePlus

  • See BAX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_004315.1  NP_620116.1  NP_620118.1  NP_620119.2  

    ENSEMBL proteins: 
     ENSP00000263262   ENSP00000426328   ENSP00000348871   ENSP00000389971   ENSP00000346461  
     ENSP00000426184   ENSP00000293288   ENSP00000441413   ENSP00000375744  
    Reactome Protein details: Q07812

    BAX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for BAX
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BAX
    GenScript Custom Purified and Recombinant Proteins Services for BAX
    Novus Biologicals BAX Proteins
    Novus Biologicals BAX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for BAX
    Browse Proteins at Cloud-Clone Corp.

    BAX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for BAX
    Cell Signaling Technology (CST) Antibodies for BAX 
    OriGene Antibodies for BAX
    OriGene Custom Antibody Services for BAX
    Novus Biologicals BAX Antibodies
    Abcam antibodies for BAX
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for BAX
    LSBio Antibodies in human, mouse, rat for BAX

    BAX Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BAX
    R&D Systems ELISAs for BAX (Bax-alpha, Bax)         (see all)
    GenScript Custom Assay Services for BAX
    Enzo Life Sciences assays for BAX
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR020728 Bcl2_BH3_motif_CS
     IPR020717 Bcl2_BH1_motif_CS
     IPR026304 BAX
     IPR020726 Bcl2_BH2_motif_CS
     IPR002475 Bcl2-like

    Graphical View of Domain Structure for InterPro Entry Q07812

    ProtoNet protein and cluster: Q07812

    1 Blocks protein domain: IPB000712 Apoptosis regulator Bcl-2 protein

    UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812
    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 (By similarity)
    Similarity: Belongs to the Bcl-2 family


    BAX for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAX_HUMAN, Q07812
    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

         Genatlas biochemistry entry for BAX:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10753914
    GO:0008289lipid binding IDA14522999
    GO:0015267channel activity IDA9219694
    GO:0042802identical protein binding IPI10620504
    GO:0042803protein homodimerization activity IPI9111042
         
    BAX for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bax) (see all 17):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     muscle  nervous system  renal/urinary system  reproductive system  respiratory system 

    BAX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BAX: Baxtm1Dlo Baxtm1Ofxa Baxtm1Sjk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BAX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BAX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BAX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BAX

    miRNA
    Products:
        
    miRTarBase miRNAs that target BAX:
    hsa-mir-30a-5p (MIRT028651), hsa-mir-148b-3p (MIRT019436), hsa-mir-365a-3p (MIRT044018), hsa-mir-1 (MIRT023989), hsa-mir-122-5p (MIRT023402), hsa-mir-504-5p (MIRT016249)

    Block miRNA regulation of human, mouse, rat BAX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAX (see all 12):
    hsa-miR-548w hsa-miR-548j hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548b-5p
    SwitchGear 3'UTR luciferase reporter plasmidBAX 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BAX
    Predesigned siRNA for gene silencing in human, mouse, rat BAX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BAX

    Clone
    Products:
         
    OriGene clones in human, mouse for BAX (see all 28)
    OriGene ORF clones in mouse, rat for BAX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BAX (NM_138764)
    Sino Biological Human cDNA Clone for BAX
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BAX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BAX

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BAX
    Browse ESI BIO Cell Lines and PureStem Progenitors for BAX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAX_HUMAN, Q07812: 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
    BAX_HUMAN, Q07812: Isoform Beta: Cytoplasm
    BAX_HUMAN, Q07812: Isoform Gamma: Cytoplasm
    BAX_HUMAN, Q07812: Isoform Delta: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    endoplasmic reticulum4
    nucleus4
    cytoskeleton2
    extracellular2
    lysosome2
    plasma membrane2
    vacuole2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IMP15102863
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA11912183
    GO:0005741mitochondrial outer membrane TAS--

    BAX for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BAX About   (see all 59)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Pathogenesis of ALS0.31
    Amyotrophic lateral sclerosis (ALS)0.63
    2Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    Apoptosis and survival Role of CDK5 in neuronal death and survival0.37
    Apoptosis and survival Anti apoptotic action of membrane bound ESR10.35
    3Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival FAS signaling cascades0.44
    4TWEAK Pathway
    Apoptosis and survival TNFR1 signaling pathway0.52
    Apoptosis through Death Receptors0.42
    Apoptotic Pathways Triggered By HIV10.42
    5p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BAX
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BAX (see all 39)
        Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    TRKA Signaling
    JNK Pathway

    1 Cell Signaling Technology (CST) Pathway for BAX
        Apoptosis and Autophagy

    2 Tocris Bioscience Pathways for BAX
        Akt Pathway
    VEGF Pathway

    Selected GeneGo (Thomson Reuters) Pathways for BAX (see all 12)
        Apoptosis and survival Caspase cascade
    Apoptosis and survival BAD phosphorylation
    Development Neurotrophin family signaling
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

    Selected BioSystems Pathways for BAX (see all 23)
        Apoptosis
    DNA damage response
    Apoptosis Modulation and Signaling
    DNA damage response (only ATM dependent)
    TP53 network

    2 Sino Biological Pathways for BAX
        p53 Pathway
    Death Receptor Signaling

    1 Reactome Pathway for BAX
        Activation, translocation and oligomerization of BAX

    1 PharmGKB Pathway for BAX
        Vinka Alkaloid Pathway, Pharmacokinetics

    Selected Kegg Pathways  (Kegg details for BAX) (see all 14):
        p53 signaling pathway
    Protein processing in endoplasmic reticulum
    Apoptosis
    Neurotrophin signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)


    BAX for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BAX (see all 21): 
              Lung Cancer in human mouse rat
              HIV Host Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BAX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BAX (Q078121, 2, 3 ENSP000002932884) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L11O435211, 2, 3EBI-516580,EBI-526406 MINT-4980301 MINT-7034079 MINT-4980279 MINT-7034069 MINT-7034114 MINT-4980319 I2D: score=2 
    BAK1Q166111, 2, 3, ENSP000003635914EBI-516580,EBI-519866 MINT-6740900 MINT-7306728 MINT-6740894 I2D: score=5 STRING: ENSP00000363591
    BCL2L1Q078171, 2, 3, ENSP000003025644EBI-516580,EBI-78035 MINT-4980301 MINT-4980319 I2D: score=8 STRING: ENSP00000302564
    BCL2P104151, 2, 3, ENSP000003296234EBI-516580,EBI-77694 MINT-4980319 I2D: score=10 STRING: ENSP00000329623
    MT-RNR2Q8IVG92, 3MINT-19415 MINT-19412 MINT-19414 MINT-19413 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 108):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IEA--
    GO:0001541ovarian follicle development IEA--
    GO:0001764neuron migration IEA--
    GO:0001776leukocyte homeostasis ----
    GO:0001777T cell homeostatic proliferation IEA--

    BAX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for BAX
    Selected ApexBio Compounds for BAX (see all 19)     About this table
    CompoundAction CAS #
    2,3-DCPE hydrochlorideSelectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro[418788-90-6]
    ABT-199Selective Bcl-2 inhibitor[1257044-40-8]
    ABT-263 (Navitoclax)orally sellecitive inhibitor of Bcl-2 family proteins[923564-51-6]
    ABT-737novel and potent inhibitor of BCL-2 family proteins[852808-04-9]
    Apogossypolone (ApoG2)pan Bcl-2 inhibitor[886578-07-0]
    AT-101R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1[90141-22-3]
    Bax channel blockerPotent inhibitor of Bax-mediated mitochondrial cytochrome c release[335165-68-9]
    Bax inhibitor peptide P5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-83-4]
    Bax inhibitor peptide V5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-81-2]
    Bax inhibitor peptide, negative controlNegative control peptide for the Bax inhibitor peptides V5 and P5[1315378-74-5]

    Compounds for BAX available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AT 101Downregulates Bcl-2 and Mcl-1; pro-apoptotic[90141-22-3]
    HA14-1Bcl-2 inhibitor. Induces apoptosis[65673-63-4]
    MIM1Mcl-1 inhibitor; proapoptotic--
    Bax channel blockerInhibits Bax-mediated mitochondrial cytochrome c release[335165-68-9]
    Bax inhibitor peptide V5Inhibitor of Bax-mediated apoptosis[579492-81-2]

    Selected Novoseek inferred chemical compound relationships for BAX gene (see all 139)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dutp 73.6 29 10830721 (1), 12860918 (1), 17352871 (1), 20090882 (1) (see all 28)
    adpribose 72.8 38 12490780 (2), 15486061 (1), 18565645 (1), 11205313 (1) (see all 34)
    mononucleotide 71.4 36 11753956 (3), 10699890 (2), 10918391 (2), 9639521 (2) (see all 26)
    oridonin 71.4 9 15703811 (2), 16638644 (1), 15875084 (1), 17473426 (1) (see all 8)
    noxa 68.6 25 15598651 (3), 15878356 (2), 15705586 (2), 18712736 (1) (see all 17)
    3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide 67.4 5 15033191 (1), 15749633 (1), 16243419 (1), 18279588 (1) (see all 5)
    gambogic acid 66.5 12 19200201 (2), 17693016 (1), 19379569 (1), 20011242 (1) (see all 8)
    sp 600125 65.3 19 15034932 (2), 19427996 (2), 18695917 (1), 19699753 (1) (see all 12)
    etoposide 64 69 11521193 (6), 19271688 (3), 10620629 (3), 11029754 (3) (see all 40)
    cisplatin 63.5 142 9635829 (5), 11267864 (4), 18362892 (4), 10063313 (4) (see all 80)



    BAX for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for BAX gene (5 alternative transcripts): 
    NM_004324.3  NM_138761.3  NM_138763.3  NM_138764.4  NM_138762.2  

    Unigene Cluster for BAX:

    BCL2-associated X protein
    Hs.624291  [show with all ESTs]
    Unigene Representative Sequence: BF983096
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502487 ENST00000345358(uc002plk.3 uc002pll.3 uc002plm.3)
    ENST00000513545 ENST00000515540 ENST00000356483 ENST00000415969 ENST00000354470
    ENST00000506183 ENST00000293288(uc002plf.1 uc002plg.1 uc002plh.1)
    ENST00000503726 ENST00000513217 ENST00000539787(uc010xzx.2 uc002plj.3)
    ENST00000391871
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    hsa-miR-548w hsa-miR-548j hsa-miR-559 hsa-miR-548h hsa-miR-548i hsa-miR-548c-5p hsa-miR-548y hsa-miR-548b-5p
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    Additional mRNA sequence: 

    AF247393.1 AF250190.1 AJ417988.1 AJ586909.1 AK291076.1 BC014175.2 HQ889830.1 JX524562.1 
    L22473.1 L22474.1 NR_027882.1 U19599.1 

    13 DOTS entries:

    DT.406858  DT.95248066  DT.121501083  DT.86844259  DT.100044370  DT.100044294  DT.92453441  DT.95272565 
    DT.100777418  DT.92453437  DT.91818423  DT.99971095  DT.95248065 

    16 AceView cDNA sequences:

    CR595189 AF250190 AJ417988 NM_138762 L22474 NM_004324 L22475 AF247393 
    NM_138764 AF007826 NM_138761 NM_138763 BC014175 U19599 NM_138765 L22473 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BAX    About this scheme

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


    ECgene alternative splicing isoforms for BAX

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BAX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCATTTTTC
    BAX Expression
    About this image


    BAX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Odontoblasts Dentin
     
     Bone (Muscoskeletal System)
             Bone Marrow
    BAX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.624291

    UniProtKB/Swiss-Prot: BAX_HUMAN, Q07812
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BAX (see all 21): 
              Lung Cancer in human mouse rat
              HIV Host Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Autophagy in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for BAX gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bax1 , 5 BCL2-associated X protein1, 5 89.58(n)1
    92.19(a)1
      7 (29.32 cM)5
    120281  NM_007527.31  NP_031553.11 
     454616955 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    46(a)
    32(a)
    many → 1
    many → 1
    GL343355.1(5041-20804)
    GL343287.1(852-3936)
    African clawed frog
    (Xenopus laevis)
    Amphibia bax-A2 BCL2-associated X protein 73.82(n)    AF288809.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bax2 bcl2-associated X protein 76.49(n)   58081  BC055592.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAX gene
    4 SIMAP similar genes for BAX using alignment to 7 protein entries:     BAX_HUMAN (see all proteins):
    BCL2L2-PABPN1    BCL2L2    BCL2L1    bcl-2

    BAX for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BAX (see all 279)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0135764
    A Burkitt lymphoma4--see VAR_0135762 G V mis40--------
    VAR_0078094
    A T-cell acute lymphoblastic leukemia cell line4--see VAR_0078092 G R mis40--------
    rs1417723911,2
    --45833057(+) GGGTGA/GATGAA 5 -- us2k10--------
    rs116673511,2
    C,F,H--45833075(+) AACATT/GAAATT 5 -- us2k1 tfbs329Minor allele frequency- G:0.12NS EA NA WA CSA 2772
    rs1899573741,2
    --45833090(+) CACTGC/TACACA 5 -- us2k10--------
    rs755625291,2
    C,F--45833192(+) ACTGAG/AGCTGG 5 -- us2k14Minor allele frequency- A:0.16WA CSA 124
    rs116716101,2
    C,F,A,H--45833200(+) TGGAGA/TGCAAG 5 -- us2k1 tfbs311Minor allele frequency- T:0.13NA WA CSA EA 373
    rs129837171,2
    C--45833217(+) ATCTCG/AGCTCA 5 -- us2k1 tfbs39Minor allele frequency- A:0.11NA WA CSA 134
    rs1820167181,2
    --45833271(+) CTCCCA/GAGTAG 5 -- us2k10--------
    rs751442871,2
    C--45833425(+) CAGAAG/TTGAGC 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for BAX (49458072 - 49465055 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BAX:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665637CNV Deletion23128226
    esv2718694CNV Deletion23290073
    nsv833857CNV Loss17160897
    nsv833856CNV Loss17160897
    nsv912248CNV Loss21882294
    nsv9739CNV Gain+Loss18304495

    Human Gene Mutation Database (HGMD): BAX
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600040   
    OMIM disorders: 114500  613065  
    Selected diseases for BAX (see all 247):    
    About MalaCards
    malignant teratoma    ovary adenocarcinoma    periampullary adenocarcinoma    maxillary sinus squamous cell carcinoma
    colorectal cancer    acute t cell leukemia    brain cancer    serous cystadenocarcinoma
    ovarian serous cystadenocarcinoma    fuchs' endothelial dystrophy    doxorubicin induced cardiomyopathy    retinal ischemia
    cheilitis    small intestine adenocarcinoma    actinic cheilitis    esophageal cancer
    panniculitis    turcot syndrome    basaloid squamous cell carcinoma    li-fraumeni syndrome

    8 diseases from the University of Copenhagen DISEASES database for BAX:
    Cancer     Vascular disease     Toxic encephalopathy     Parkinson's disease
    Heart disease     Alzheimer's disease     Eye disease     Gastrointestinal system disease

    BAX for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for BAX gene (see all 89)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 74.9 848 17295204 (7), 17352871 (5), 11712682 (5), 11759059 (5) (see all 99)
    microsatellite instability 74.4 67 9500210 (4), 12378532 (3), 9849580 (2), 12866376 (2) (see all 51)
    cancer 71.9 171 12120204 (3), 15832769 (3), 9890562 (3), 19723045 (3) (see all 99)
    leukemia 64 59 9583678 (2), 9446661 (2), 18059532 (2), 9031099 (1) (see all 48)
    colon cancer 63.7 65 12378532 (5), 19003586 (4), 15262986 (2), 15661804 (2) (see all 38)
    breast cancer 58.8 170 17626754 (5), 11469882 (4), 9035310 (3), 10481938 (3) (see all 99)
    carcinoma squamous cell 56.7 100 9039223 (3), 10492046 (3), 9649682 (3), 17384243 (3) (see all 58)
    necrosis 56.3 78 17470554 (3), 12393866 (2), 10523849 (2), 16443387 (2) (see all 65)
    prostate cancer 56.2 74 18247359 (4), 16880611 (3), 16794010 (3), 9836559 (3) (see all 48)
    gastric cancer 55.3 80 11172605 (4), 19160045 (4), 11532860 (3), 10880019 (3) (see all 48)

    Genetic Association Database (GAD): BAX
    Human Genome Epidemiology (HuGE) Navigator: BAX (56 documents)
    Tumor Gene Database (TGDB): BAX

    Export disorders for BAX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BAX gene, integrated from 10 sources (see all 3595):
    (articles sorted by number of sources associating them with BAX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. (PubMed id 8358790)1, 2, 3 Oltvai Z.N.... Korsmeyer S.J. (Cell 1993)
    2. IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulatory factor for Bax and apoptosis activation. (PubMed id 20300062)1, 2, 9 Benard G....Karbowski M. (EMBO J. 2010)
    3. Humanin peptide suppresses apoptosis by interfering with Bax activation. (PubMed id 12732850)1, 2, 9 Guo B....Reed J.C. (Nature 2003)
    4. Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996)1, 4, 9 Jung B....Carethers J.M. (Int. J. Cancer 2006)
    5. Single-nucleotide polymorphisms at the TP53-binding or responsive promoter regions of BAX and BCL2 genes and risk of squamous cell carcinoma of the head and neck. (PubMed id 17693666)1, 4, 9 Chen K....Wei Q. (Carcinogenesis 2007)
    6. Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis. (PubMed id 12161031)1, 4, 9 Kuhlmann T....BrA1ck W. (J. Neuroimmunol. 2002)
    7. BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. (PubMed id 19898928)1, 4, 9 Isaian A....Sanati M.H. (J. Clin. Immunol. 2010)
    8. 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. (PubMed id 15735127)1, 4, 9 Starczynski J....Fegan C. (J. Clin. Oncol. 2005)
    9. The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients. (PubMed id 11912183)1, 2, 9 Cartron P.F.... Vallette F.M. (Hum. Mol. Genet. 2002)
    10. Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis. (PubMed id 17438390)1, 4, 9 OcaA+a M.G....Asensi V. (Genet. Med. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 581 HGNC: 959 AceView: BAX Ensembl:ENSG00000087088 euGenes: HUgn581
    ECgene: BAX Kegg: 581 H-InvDB: BAX

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BAX Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BAX Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/bax/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAX gene:
    Search GeneIP for patents involving BAX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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