AlphaFold predicted structure
BARD1 · Q99728
Mean pLDDT
64.2/ 100
Low
777 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)24%
- Low(50–70)6%
- Very low(< 50)41%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BARD1
Chr 2q35BRCA1 associated RING domain 1
- MANE:
- ENST00000260947.9
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Familial breast cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInherited breast cancer and ovarian cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInherited ovarian cancer (without breast cancer)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Hereditary breast cancer
0.69hereditary breast carcinoma
0.69BARD1-related cancer predisposition
0.66breast cancer
0.65susceptibility to breast cancer
0.60Inherited cancer-predisposing syndrome
0.58hereditary neoplastic syndrome
0.58cancer
0.58Hereditary breast and ovarian cancer syndrome
0.57neuroblastoma
0.57
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BRCA1-associated RING domain protein 1
E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage
Diseases associated with BARD1
Curated MONDO disease pages that list BARD1 among their top associated genes.