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BARD1 BRCA1 associated RING domain 1

Gene ID: 580, updated on 1-Jul-2024
Gene type: protein coding

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
GeneReviews: Not available
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
GeneReviews: Not available
Familial cancer of breastSee labs
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-05-01)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-01)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
2q35
Sequence:
Chromosome: 2; NC_000002.12 (214725646..214809683, complement)
Total number of exons:
13

Links

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