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Gene : BAX Homo sapiens

Name  ? BCL2 associated X, apoptosis regulator Cytological Location  19q13.33
Brief Description  BCL2 associated X, apoptosis regulator
Description  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]
  • synonyms:
  • NM_138763,
  • OTTHUMG00000160476,
  • HGNC:959,
  • BCL2L4,
  • BCL2L4,
  • BAX,
  • BCL2 associated X protein,
  • BCL2-associated X protein,
  • uc002plk.4
  • identifiers:
  • 581,
  • ENSG00000087088,
  • BAX

Genome feature

Region: gene ? Length: 6974  
Location: 19:48954825-48961798 Cyto location: 19q13.33


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

119 SN Ps

5 Cross References

19 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results