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Gene : BBC3 Homo sapiens

Name  ? BCL2 binding component 3 Cytological Location  19q13.32
Brief Description  BCL2 binding component 3
Description  This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
  • synonyms:
  • BBC3,
  • uc002pgf.5,
  • AF332558,
  • p53-upregulated modulator of apoptosis,
  • PUMA,
  • HGNC:17868,
  • NM_014417,
  • PUMA,
  • OTTHUMG00000183489,
  • JFY-1,
  • JFY1,
  • JFY1
  • identifiers:
  • 27113,
  • ENSG00000105327,
  • BBC3

Genome feature

Region: gene ? Length: 12177  
Location: 19:47220822-47232998 reverse strand Cyto location: 19q13.32


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

0 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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Expression

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Other

87 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results