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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAX Gene

protein-coding   GIFtS: 73
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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n335064 n335065 n408059      

Export aliases for BAX gene to outside databases

Previous GC identifers: GC19P050116 GC19P049826 GC19P054135 GC19P054149 GC19P045835


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with BAX include malignant teratoma, and ovary adenocarcinoma, and among its related super-pathways are Apoptosis and survival Role of CDK5 in neuronal death and survival and Apoptosis and survival Caspase cascade. GO annotations related to this gene include protein homodimerization activity and identical protein binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAX gene promoter:
         STAT1   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
Subcellular location: Isoform Beta: Cytoplasm
Subcellular location: Isoform Gamma: Cytoplasm
Subcellular location: Isoform Delta: Cytoplasm (Potential)
6/11 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07812

  • BAX Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BAX Protein Expression
    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
    Human Recombinant Protein Products for BAX: 
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    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. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    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



    BAX Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR020728 Bcl2_BH3_motif_CS
     IPR002475 Bcl2-like
     IPR026298 Blc2_fam
     IPR020717 Bcl2_BH1_motif_CS
     IPR026304 BAX

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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:
         15/17 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bax) (see all 17):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  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 - Custom generated mouse model solutions for BAX 
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       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 

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    8/12 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): BAX (NM_138764)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAX


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BAX About   (see all 60)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Development 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
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival Caspase cascade0.44
    3TWEAK Pathway
    Apoptosis and survival TNFR1 signaling pathway0.52
    Apoptosis through Death Receptors0.42
    Apoptotic Pathways Triggered By HIV10.42
    4p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    5p53 Pathway
    p53 Signaling0.38
    p53 Pathway0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/13 EMD Millipore Pathways for BAX (see all 13)
        Apoptosis and survival Role of CDK5 in neuronal death and survival
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Lymphotoxin-beta receptor signaling
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
    Apoptosis and survival TNFR1 signaling pathway

    1 R&D Systems Pathway for BAX
        Apoptosis Signaling Pathways

    5/39 Downloadable PowerPoint Slides of QIAGEN 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

    5/12 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

    5/22 BioSystems Pathways for BAX (see all 22)
        DNA damage response
    Apoptosis
    Apoptosis Modulation and Signaling
    DNA damage response (only ATM dependent)
    TP53 network

    2 Sino Biological Pathways for BAX 
        p53 Pathway
    Death Receptor Signaling

    3        Reactome Pathways for BAX
        Activation, translocation and oligomerization of BAX
    Intrinsic Pathway for Apoptosis
    Apoptosis

    1 PharmGKB Pathway for BAX
        Vinka Alkaloid Pathway, Pharmacokinetics

    5/14         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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAX

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

    5/87 Interacting proteins for BAX (Q078121, 2, 3 ENSP000002932884) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    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
    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 
    BCL2L1Q078172, 3, ENSP000003025644MINT-4980301 MINT-4980319 I2D: score=8 STRING: ENSP00000302564
    About this table

    Gene Ontology (GO): 5/96 biological process terms (GO ID links to tree view) (see all 96):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAX for compounds           About GeneDecksing

    EMD Millipore small molecules for BAX:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for BAX

    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]

    10/139 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)

    Search CenterWatch for drugs/clinical trials and news about BAX

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    8/12 QIAGEN miScript miRNA 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
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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:

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

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAX expression in normal human tissues (normalized intensities)      BAX embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Ameloblasts Dental Enamel
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             huvec   
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   

    See BAX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAX

    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

        SABiosciences Expression via Pathway-Focused 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

    This gene was present in the common ancestor of chordates.

    Orthologs for BAX gene from 4/10 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 BAX6
    BCL2-associated X protein
    47(a)
    1 ↔ 1
    GL343355.1(5041-20804)
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/279 SNPs in BAX are shown (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--------
    VAR_0135754
    ----see VAR_0135752 G E 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--------

    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
    SABiosciences Cancer Mutation 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
    OMIM gene information: 600040    OMIM disorders: --

    20/241 diseases for BAX (see all 241):    About MalaCards
    malignant teratoma    ovary adenocarcinoma    maxillary sinus squamous cell carcinoma    periampullary adenocarcinoma
    brain cancer    serous cystadenocarcinoma    ovarian serous cystadenocarcinoma    fuchs' endothelial dystrophy
    doxorubicin induced cardiomyopathy    esophageal cancer    basaloid squamous cell carcinoma    turcot syndrome
    small intestine adenocarcinoma    retinal ischemia    cheilitis    actinic cheilitis
    lichen planus    li-fraumeni syndrome    gallbladder adenocarcinoma    lymphadenitis

    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:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/89 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)
    About This Section

    PubMed articles for BAX gene, integrated from 9 sources (see all 3568):
    (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. (1993)
    2. IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulat ory factor for Bax and apoptosis activation. (PubMed id 20300062)1, 2, 9 Benard G....Karbowski M. (2010)
    3. Humanin peptide suppresses apoptosis by interfering with Bax activation. (PubMed id 12732850)1, 2, 9 Guo B....Reed J.C. (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. (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. (2007)
    6. Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis. (PubMed id 12161031)1, 4, 9 Kuhlmann T....Bruck W. (2002)
    7. BAK, BAX, and NBK/BIK proapoptotic gene alterations i n iranian patients with ataxia telangiectasia. (PubMed id 19898928)1, 4, 9 Isaian A....Sanati M.H. (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. (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. (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 Ocana M.G....Asensi V. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 581 HGNC: 959 AceView: BAX Ensembl:ENSG00000087088 euGenes: HUgn581
    ECgene: BAX Kegg: 581 H-InvDB: BAX

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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