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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BARD1
BRCA1 associated RING domain 1
Chromosome 2 Β· 2q35
NCBI Gene: 580Ensembl: ENSG00000138376.11HGNC: HGNC:952UniProt: A0A087WZ19
316PubMed Papers
20Diseases
0Drugs
627Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
TrendingVariant-Rich
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-protein transferase activityRNA bindingprotein bindingprotein homodimerization activitybreast cancerBARD1-related cancer predispositionHereditary breast cancerhereditary neoplastic syndrome
✦AI Summary

BARD1 (BRCA1-associated RING domain 1) encodes an E3 ubiquitin-protein ligase that functions as a tumor suppressor through its heterodimeric complex with BRCA1 1. The BRCA1-BARD1 complex mediates formation of Lys-6-linked polyubiquitin chains and coordinates DNA damage repair, ubiquitination, and transcriptional regulation to maintain genomic stability 2. Mechanistically, BARD1 plays a critical role in homologous recombination (HR) by promoting DNA end resection through direct interactions with nucleases EXO1, BLM, and WRN 3. BRCA1-BARD1 also enhances RAD51 recombinase activity and promotes assembly of synaptic complexes essential for DNA joint formation 2. Germline BARD1 variants are associated with inherited cancer susceptibility, particularly in breast and ovarian cancers, though disease penetrance is gene-specific 4. Functional studies demonstrate that HDR-deficient BARD1 missense variants, particularly in the ankyrin repeat and BRCT domains, correlate with increased DNA damage sensitivity and cancer risk 5. BARD1 also functions with CSTF1 to modulate mRNA processing and RNA polymerase II stability. Loss of BARD1 function impairs the balance between homologous recombination and non-homologous end joining repair pathway choice 6, with therapeutic implications for understanding PARP inhibitor resistance.

Sources cited
1
BRCA1-BARD1 promotes RAD51-mediated DNA recombination and enhances synaptic complex assembly
PMID: 28976962
2
BRCA1-BARD1 mediates DNA double-strand break repair by homologous recombination and protects replication forks
PMID: 32094664
3
Germline BARD1 variants confer inherited susceptibility to breast, ovarian, prostate, and pancreatic cancers
PMID: 35008774
4
BRCA1-BARD1 physically interacts with and upregulates EXO1, BLM, and WRN nucleases during DNA end resection
PMID: 39261729
5
HDR-deficient BARD1 missense variants in ankyrin repeat and BRCT domains increase DNA damage sensitivity
PMID: 30925164
6
BRCA1-BARD1 antagonizes CST complex to promote DNA end resection and homologous recombination pathway choice
PMID: 40403056
Disease Associationsβ“˜20
breast cancerOpen Targets
0.65Moderate
BARD1-related cancer predispositionOpen Targets
0.65Moderate
Hereditary breast cancerOpen Targets
0.58Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
hereditary breast carcinomaOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
cancerOpen Targets
0.58Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.57Moderate
neuroblastomaOpen Targets
0.57Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.57Moderate
gastric cancerOpen Targets
0.53Moderate
breast carcinomaOpen Targets
0.51Moderate
susceptibility to breast cancerOpen Targets
0.48Moderate
breast neoplasmOpen Targets
0.45Moderate
ovarian cancerOpen Targets
0.40Moderate
skin basal cell carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Pathogenic Variants627
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Hereditary breast ovarian cancer syndrome|Triple-Negative Breast Cancer Finding|Breast and/or ovarian cancer|Endometrial carcinoma|BARD1-related disorder|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 564
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 19
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Breast and/or ovarian cancer|BARD1-related cancer predisposition|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 767
NM_000465.4(BARD1):c.2262del (p.Val755fs)Pathogenic
Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 755
NM_000465.4(BARD1):c.1678-3C>GPathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
β˜…β˜…β˜†β˜†2026
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Malignant tumor of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 644
NM_000465.4(BARD1):c.592del (p.Ala198fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast
β˜…β˜…β˜†β˜†2026β†’ Residue 198
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Gastric cancer|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 150
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Hereditary breast ovarian cancer syndrome|BARD1-related disorder|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 404
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Breast cancer, susceptibility to|BARD1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 551
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 211
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 674
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 652
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 717
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 350
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Triple-Negative Breast Cancer Finding|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Gastric cancer|BARD1-related cancer predisposition
β˜…β˜…β˜†β˜†2026β†’ Residue 641
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)Pathogenic
not provided|Familial cancer of breast|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 402
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast
β˜…β˜…β˜†β˜†2025β†’ Residue 211
NM_000465.4(BARD1):c.1829del (p.Pro610fs)Pathogenic
Familial cancer of breast|Malignant tumor of breast
β˜…β˜…β˜†β˜†2025β†’ Residue 610
NM_000465.4(BARD1):c.979A>T (p.Arg327Ter)Pathogenic
Familial cancer of breast
β˜…β˜…β˜†β˜†2025β†’ Residue 327
View on ClinVar β†—
Related Genes
ATMProtein interaction100%H2AC8Protein interaction100%H3C12Protein interaction100%H2BC21Protein interaction100%TOPBP1Protein interaction100%ABRAXAS1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
32%
Lung
21%
Ovary
16%
Heart
14%
Liver
7%
Gene Interaction Network
Click a node to explore
BARD1ATMH2AC8H3C12H2BC21TOPBP1ABRAXAS1
PROTEIN STRUCTURE
Preparing viewer…
PDB6M14 Β· 1.88 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.72–1.09]
RankingsWhere BARD1 stands among ~20K protein-coding genes
  • #1,068of 20,598
    Most Researched316 Β· top 10%
  • #78of 5,498
    Most Pathogenic Variants627 Β· top 5%
  • #11,057of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedBARD1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
PMID: 28976962
Nature Β· 2017
1.00
2
Homologous Recombination Deficiencies and Hereditary Tumors.
PMID: 35008774
Int J Mol Sci Β· 2021
0.96
3
The antitumorigenic roles of BRCA1-BARD1 in DNA repair and replication.
PMID: 32094664
Nat Rev Mol Cell Biol Β· 2020
0.90
4
The genetic landscape of high-risk neuroblastoma.
PMID: 23334666
Nat Genet Β· 2013
0.80
5
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
PMID: 26315354
J Natl Cancer Inst Β· 2015
0.70