The BARD1 gene homepage
| General information |
| Gene symbol |
BARD1 |
| Gene name |
BRCA1 associated RING domain 1 |
| Chromosome |
2 |
| Chromosomal band |
q34-q35 |
| Imprinted |
- |
| Genomic reference |
NG_012047.1 |
| Transcript reference |
NM_000465.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
161 |
| Unique public DNA variants reported |
96 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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, Jul 2008] |
| Date created |
April 14, 2013 |
Active transcripts
| Copyright & disclaimer |
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