Entrez gene ID | | 580 |
Official gene symbol | | BARD1 |
Full name | | BRCA1 associated RING domain 1 |
Aliases | | ,-, |
Gene 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. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q34-q35 |
Gene position | | 215674428 - 215593262 Map Viewer |
Gene orientation | | minus |
Gene size | | 81167 bp |
Gene sequence |
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