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Gene : BARD1 Homo sapiens

Name  ? BRCA1 associated RING domain 1 Cytological Location  2q35
Brief Description  BRCA1 associated RING domain 1
Description  This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
  • synonyms:
  • BARD1,
  • OTTHUMG00000133016,
  • HGNC:952,
  • NM_000465,
  • uc021vwi.2
  • identifiers:
  • 580,
  • ENSG00000138376,
  • BARD1

Genome feature

Region: gene ? Length: 84039  
Location: 2:214725645-214809683 reverse strand Cyto location: 2q35


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SNPs

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Disease

1 Diseases

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Expression

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3756 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results