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BAX Gene(Protein Coding)

BCL2 Associated X, Apoptosis Regulator

GCID:
GC19P048954
GIFtS:
55
Genes Participants
UDN Logo

Aliases for BAX Gene

Aliases for BAX Gene

  • BCL2 Associated X, Apoptosis Regulator 2 3 5
  • BCL2 Associated X Protein 2 3
  • Bcl-2-Like Protein 4 3 4
  • Bcl2-L-4 3 4
  • BCL2L4 3 4
  • BCL2-Associated X Protein Omega 3
  • BCL2-Associated X Protein 2
  • Apoptosis Regulator BAX 3
  • Baxdelta2G9omega 3
  • Baxdelta2omega 3
  • Baxdelta2G9 3

External Ids for BAX Gene

Previous GeneCards Identifiers for BAX Gene

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

Summaries for BAX Gene

Entrez Gene Summary for BAX Gene

  • The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BAX Gene

BAX (BCL2 Associated X, Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BAX include Precursor T-Cell Acute Lymphoblastic Leukemia and Acute T Cell Leukemia. Among its related pathways are Gene Expression and Akt Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

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

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  1. Regulatory Element

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 650.7 +0.5 473 2.7 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 BAX PRR12 SNRNP70 GRWD1 PIH1D1 SNORD35A PTOV1-AS2 KDELR1 NUP62 RPS11
GH19J049494 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.3 +544.2 544229 9.7 CLOCK FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D RPS11 SNORD35B MIR150 GC19P049561 GC19M049503 NUP62 PRR12 ALDH16A1 SNORD35A IRF3
GH19J049450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.3 +498.0 497997 4.7 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 ALDH16A1 PIH1D1 POLD1 NUP62 SNORD35A IRF3 SNORD35B PNKP PRR12 BAX
GH19J048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.6 +9.2 9214 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL GC19P048967 GC19P048966 ENSG00000267898 NUP62 PTOV1-AS2 IRF3 SNORD35A SNORD35B PRR12
GH19J049874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.2 +921.9 921919 5.2 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 PNKP AKT1S1 TBC1D17 PIR46791 NUP62 POLD1 PTOV1-AS2 PRR12 SNORD35A IRF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAX on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for BAX Gene

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

Genomic View for BAX Gene

Genes around BAX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BAX Gene

Proteins for BAX Gene

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  • Protein details for BAX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07812-BAX_HUMAN
    Recommended name:
    Apoptosis regulator BAX
    Protein Accession:
    Q07812
    Secondary Accessions:
    • A8K4W1
    • P55269
    • Q07814
    • Q07815
    • Q8WZ49
    • Q9NR76
    • Q9NYG7
    • Q9UCZ6
    • Q9UCZ7
    • Q9UQD6

    Protein attributes for BAX Gene

    Size:
    192 amino acids
    Molecular mass:
    21184 Da
    Quaternary structure:
    • Homodimer. Forms higher oligomers under stress conditions. 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.
    • (Microbial infection) Interacts with adenovirus E1B 19K protein; this interaction blocks BAX oligomerization (PubMed:11462023).
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein vMIA/UL37.
    • (Microbial infection) Interacts with enterovirus protein 2B; this interaction activates BAX-induced apoptosis.

    Three dimensional structures from OCA and Proteopedia for BAX Gene

    Alternative splice isoforms for BAX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAX Gene

Protein Expression for BAX Gene

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

Post-translational modifications for BAX Gene

  • Ubiquitination at posLast=2121
  • Modification sites at PhosphoSitePlus

Other Protein References for BAX Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BAX Gene

Domains & Families for BAX Gene

Gene Families for BAX Gene

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

Protein Domains for BAX Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BAX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q07812

UniProtKB/Swiss-Prot:

BAX_HUMAN :
  • Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.
  • Belongs to the Bcl-2 family.
Domain:
  • Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BAX: view

Function for BAX Gene

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  2. CRISPR
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Molecular function for BAX Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis.
GENATLAS Biochemistry:
BCL2-associated X protein,promoting of apoptosis,21kDa,extensively homolog to BCL2,translocated and inserted into the mitochondrial membrane binding permeability transition pore and increasing the release of cytochrome c,leading to cell death after homodimerization with BCL2,modulating CDK2 activation during thymocyte apoptosis,mutated in gastric carcinomas and in endometrial atypical hyperplasia,determinant of chemo-sensitivity in tumor cell-lines,maybe involved in the tumorigenesis of HNPCC with microsatellite instability and in the uterine cancer,not mutated in acquired immunodeficiency syndrome-related non Hodgkin lymphoma

Phenotypes From GWAS Catalog for BAX Gene

Gene Ontology (GO) - Molecular Function for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9027312
GO:0008289 lipid binding IDA 14522999
GO:0015267 channel activity IDA 9219694
GO:0030544 Hsp70 protein binding IEA --
GO:0042802 identical protein binding IPI 1558161
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAX

Clone Products

  • Addgene plasmids for BAX

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAX Gene

Localization for BAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAX Gene

Isoform Alpha: Mitochondrion 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
extracellular 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IMP 15102863
GO:0005635 nuclear envelope IDA 12925958
GO:0005737 cytoplasm IEA,IDA 16302269
GO:0005739 mitochondrion IEA,IDA 11912183
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

3 Sino Biological pathways for BAX Gene
3 GeneTex pathways 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

SIGNOR curated interactions for BAX Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0001764 neuron migration IEA --
GO:0001776 leukocyte homeostasis IEA --
GO:0001777 T cell homeostatic proliferation IEA --
GO:0001782 B cell homeostasis IEA --
genes like me logo Genes that share ontologies with BAX: view

Drugs & Compounds for BAX Gene

Products:

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(80) Drugs for BAX Gene - From: 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 62
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

(69) 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
genes like me logo Genes that share compounds with BAX: view

Drug Products

Transcripts for BAX Gene

Products:

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

mRNA/cDNA for BAX Gene

(10) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BAX Gene

BCL2-associated X protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAX

Clone Products

  • Addgene plasmids for BAX

Alternative Splicing Database (ASD) splice patterns (SP) for BAX Gene

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

Relevant External Links for BAX Gene

GeneLoc Exon Structure for
BAX
ECgene alternative splicing isoforms for
BAX

Expression for BAX Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for BAX Gene
mRNA expression by GTEx for BAX GenemRNA expression by BioGPS for BAX Gene

mRNA differential expression in normal tissues according to GTEx for BAX Gene

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

Protein differential expression in normal tissues from HIPED for BAX Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAX Gene



Protein tissue co-expression partners for BAX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BAX Gene:

BAX

SOURCE GeneReport for Unigene cluster for BAX Gene:

Hs.624291

mRNA Expression by UniProt/SwissProt for BAX Gene:

Q07812-BAX_HUMAN
Tissue specificity: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breast, ovary, testis, lung, colon, brain and at low levels in skin. Isoform Alpha and isoform Sigma are expressed in pro-myelocytic leukemia, histiocytic lymphoma, Burkitts lymphoma, T-cell lymphoma, lymphoblastic leukemia, breast adenocarcinoma, ovary adenocarcinoma, prostate carcinoma, prostate adenocarcinoma, lung carcinoma, epidermoid carcinoma, small cell lung carcinoma and colon adenocarcinoma cell lines.

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 34 33
  • 99.83 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BAX 34 33
  • 94.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia BAX 34 33
  • 92.88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Bax 16 34 33
  • 89.58 (n)
rat
(Rattus norvegicus)
 Mammalia Bax 33
  • 89.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia BAX 34
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 46 (a)
 OneToMany
-- 34
  • 32 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia bax 33
  • 62.06 (n)
MGC76049 33
African clawed frog
(Xenopus laevis)
 Amphibia bax-A 33
zebrafish
(Danio rerio)
 Actinopterygii baxa 34 34 33
  • 58.97 (n)
 OneToMany
BAX (3 of 5) 34
  • 27 (a)
 OneToMany
baxb 34
  • 20 (a)
 OneToMany
BAX (5 of 5) 34
  • 20 (a)
 OneToMany
bax 33
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

(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

No data available for Paralogs for BAX Gene

Variants for BAX Gene

Products:

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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

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

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