BARD1 Gene

HGNC Family	Ankyrin repeat domain containing (ANKRD)
Name	BRCA1 associated RING domain 1
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. [provided by RefSeq, Sep 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BARD1 is a multifunctional protein that serves as the critical binding partner of BRCA1 to form a heterodimeric tumor suppressor complex essential for the maintenance of genomic stability. In this complex, BARD1 not only enhances the E3 ubiquitin ligase activity of BRCA1 by directing the assembly of predominantly unconventional (lysine‐6–linked) polyubiquitin chains, but it also facilitates the proper recruitment and retention of DNA repair factors at sites of DNA double‐strand breaks and replication stress."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, BARD1 plays a pivotal role in homologous recombination by promoting RAD51-mediated strand invasion through its cooperation with BRCA1 and by modulating local chromatin states at damaged DNA foci. In addition, it acts as a nuclear chaperone for BRCA1 by masking BRCA1’s nuclear export signals, thereby ensuring efficient nuclear localization and robust DNA damage checkpoint control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Germline studies have also implicated variants in BARD1 as moderate risk factors for cancers—including breast, ovarian, and neuroblastoma—underscoring its tumor suppressor function in a genetic context."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "11"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, BARD1’s interactions with deubiquitinating enzymes (such as BAP1) suggest an additional layer of regulation through which it helps balance ubiquitination during the DNA damage response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Collectively, these findings define BARD1 as an essential modulator of BRCA1 function whose dual roles—enhancing ligase activity and ensuring proper nuclear targeting—are fundamental to coordinating effective DNA repair and tumor suppression.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sergio Amaro, Dolors Soy, Víctor Obach, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A pilot study of dual treatment with recombinant tissue plasminogen activator and uric acid in acute ischemic stroke."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stroke (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/STROKEAHA.106.480699"}], "href": "https://doi.org/10.1161/STROKEAHA.106.480699"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17525395"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17525395"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michal Zimmermann, Francisca Lottersberger, Sara B Buonomo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "53BP1 regulates DSB repair using Rif1 to control 5' end resection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1231573"}], "href": "https://doi.org/10.1126/science.1231573"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23306437"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23306437"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Weixing Zhao, Justin B Steinfeld, Fengshan Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature24060"}], "href": "https://doi.org/10.1038/nature24060"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28976962"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28976962"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Donna L Mallery, Cassandra J Vandenberg, Kevin Hiom "}, {"type": "b", "children": [{"type": "t", "text": "Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/emboj/cdf691"}], "href": "https://doi.org/10.1093/emboj/cdf691"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12485996"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12485996"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuanshu Dong, Mohamed-Ali Hakimi, Xiaowei Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s1097-2765(03)00424-6"}], "href": "https://doi.org/10.1016/s1097-2765(03"}, {"type": "t", "text": "00424-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14636569"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14636569"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Foon Wu-Baer, Karen Lagrazon, Wei Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.C300249200"}], "href": "https://doi.org/10.1074/jbc.C300249200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12890688"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12890688"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Angus Chen, Frida E Kleiman, James L Manley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M201252200"}], "href": "https://doi.org/10.1074/jbc.M201252200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11927591"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11927591"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Fergus J Couch, Hermela Shimelis, Chunling Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA Oncol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jamaoncol.2017.0424"}], "href": "https://doi.org/10.1001/jamaoncol.2017.0424"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28418444"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28418444"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Susan J Ramus, Honglin Song, Ed Dicks, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Natl Cancer Inst (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jnci/djv214"}], "href": "https://doi.org/10.1093/jnci/djv214"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26315354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26315354"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Mario Capasso, Marcella Devoto, Cuiping Hou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variations in BARD1 influence susceptibility to high-risk neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.374"}], "href": "https://doi.org/10.1038/ng.374"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19412175"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19412175"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Sharon J Diskin, Mario Capasso, Robert W Schnepp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2387"}], "href": "https://doi.org/10.1038/ng.2387"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22941191"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22941191"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Hiroyuki Nishikawa, Wenwen Wu, Ayaka Koike, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-08-3355"}], "href": "https://doi.org/10.1158/0008-5472.CAN-08-3355"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19117993"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19117993"}]}]}]}
Proteins	BARD1_HUMAN
NCBI Gene ID	580
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BARD1 has 8,540 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 134 datasets.

Click the + buttons to view associations for BARD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BARD1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BARD1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BARD1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BARD1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BARD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BARD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BARD1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving BARD1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BARD1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BARD1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BARD1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BARD1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BARD1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BARD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BARD1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BARD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BARD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BARD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with BARD1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with BARD1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BARD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BARD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BARD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BARD1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BARD1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BARD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BARD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing BARD1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BARD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BARD1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BARD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with BARD1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BARD1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving BARD1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving BARD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with BARD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with BARD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BARD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BARD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BARD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BARD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.