BRCA1-Associated Ring Domain 1

Alternative Names

  • BARD1

Associated Diseases

Breast Cancer
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OMIM Number

601593

NCBI Gene ID

580

Uniprot ID

Q99728

Length

84,039 bases

No. of Exons

13

No. of isoforms

4

Protein Name

BRCA1-associated RING domain protein 1

Molecular Mass

86648 Da

Amino Acid Count

777

Genomic Location

chr2:214,725,645-214,809,683

Gene Map Locus
2q35

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000465.4:c.1075_1095delLebanonchr2:214780783-214780803Benign, Likely BenignUncertain SignificanceBreast CancerNG_012047.2:g.33906_33926del; NM_000465.4:c.1075_1095del; NP_000456.2:p.Leu359_Pro365del28997575140795
NM_000465.4:c.119C>TLebanonchr2:214809451Uncertain SignificanceBreast CancerNG_012047.2:g.5254C>T; NM_000465.4:c.119C>T; NP_000456.2:p.Ala40Val71579841142910
NM_000465.4:c.253G>TLebanonchr2:214792408Benign, Likely BenignUncertain SignificanceBreast CancerNG_012047.2:g.22297G>T; NM_000465.4:c.253G>T; NP_000456.2:p.Val85Leu370359540142450

Other Reports

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patient with a variant of uncertain significance in the BARD1 gene.

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