BARD1

Summary

BARD1 (BRCA1 associated RING domain 1, HGNC:952) is a protein-coding gene on chromosome 2q35, encoding BRCA1-associated RING domain protein 1 (Q99728). E3 ubiquitin-protein ligase. In precision oncology, BARD1 Mutation confers sensitivity to Olaparib in Castration-resistant Prostate Carcinoma (CIViC Level A); 1 further curated variant–drug associations are listed below. It is a selective cancer dependency (DepMap: 58.4% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

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.

Source: NCBI Gene 580 — RefSeq curated summary.

At a glance

• Gene–disease (curated): BARD1-related cancer predisposition (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 4,653 total — 444 pathogenic, 143 likely-pathogenic
• Phenotypes (HPO): 9
• Precision-oncology evidence (CIViC): 2 curated variant–drug associations
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Cancer dependency (DepMap): dependent in 58.4% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000465

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:952
Approved symbol	BARD1
Name	BRCA1 associated RING domain 1
Location	2q35
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000138376
Ensembl biotype	protein_coding
OMIM	601593
Entrez	580

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000260947, ENST00000421162, ENST00000432456, ENST00000455743, ENST00000465841, ENST00000471590, ENST00000471787, ENST00000479904, ENST00000613192, ENST00000613374, ENST00000613706, ENST00000617164, ENST00000619009, ENST00000620057, ENST00000650978, ENST00000887324, ENST00000915563, ENST00000915564, ENST00000915565, ENST00000915566

RefSeq mRNA: 5 — MANE Select: NM_000465 NM_000465, NM_001282543, NM_001282545, NM_001282548, NM_001282549

CCDS: CCDS2397, CCDS74645, CCDS74646, CCDS74647, CCDS74648

Canonical transcript exons

ENST00000260947 — 11 exons

Exon	Start	End
ENSE00001814041	214725646	214729008
ENSE00002320755	214792297	214792445
ENSE00003475336	214745722	214745854
ENSE00003492578	214797061	214797117
ENSE00003553408	214769232	214769312
ENSE00003576852	214767482	214767654
ENSE00003576984	214745067	214745159
ENSE00003615221	214752447	214752555
ENSE00003740707	214809412	214809683
ENSE00003747825	214780560	214781509
ENSE00003785122	214730411	214730508

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 99.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0954 / max 134.5927, expressed in 1608 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33556	9.6371	1591
33555	0.3563	195
33557	0.1020	23

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.56	gold quality
oocyte	CL:0000023	98.68	gold quality
tongue squamous epithelium	UBERON:0006919	94.55	gold quality
nipple	UBERON:0002030	94.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.24	gold quality
calcaneal tendon	UBERON:0003701	89.15	gold quality
endometrium epithelium	UBERON:0004811	88.77	gold quality
saphenous vein	UBERON:0007318	87.95	gold quality
buccal mucosa cell	CL:0002336	87.56	gold quality
penis	UBERON:0000989	87.25	gold quality
pharyngeal mucosa	UBERON:0000355	87.19	gold quality
bone marrow	UBERON:0002371	87.03	gold quality
trabecular bone tissue	UBERON:0002483	86.96	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.84	gold quality
esophagus squamous epithelium	UBERON:0006920	85.74	gold quality
amniotic fluid	UBERON:0000173	85.41	gold quality
oral cavity	UBERON:0000167	85.37	gold quality
epithelium of esophagus	UBERON:0001976	85.15	gold quality
ventricular zone	UBERON:0003053	85.02	gold quality
squamous epithelium	UBERON:0006914	84.27	gold quality
vena cava	UBERON:0004087	83.88	silver quality
thymus	UBERON:0002370	83.65	gold quality
tendon	UBERON:0000043	83.58	gold quality
oviduct epithelium	UBERON:0004804	83.28	gold quality
mammalian vulva	UBERON:0000997	83.21	gold quality
cervix epithelium	UBERON:0004801	83.13	gold quality
skin of abdomen	UBERON:0001416	82.97	gold quality
gingiva	UBERON:0001828	82.67	gold quality
superior surface of tongue	UBERON:0007371	82.62	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-7051	yes	956.05
E-MTAB-6075	yes	657.42
E-MTAB-7052	yes	284.89
E-GEOD-93593	yes	12.83
E-ANND-3	yes	8.19
E-MTAB-7037	no	217.87

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ESR1	Activation

Upstream regulators (CollecTRI, top): BRCA1, BRIP1, E2F4, ESR1, NR1H3

miRNA regulators (miRDB)

169 targeting BARD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-559	99.95	72.28	3609

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 58.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• BARD1 acts in p53-Dependent Apoptosis (PMID:11779501)
• Germline mutations of BARD1 have been detected in hereditary breast and breast/ovarian cancers negative for BRCA1 and BRCA2 alterations. (PMID:11807980)
• BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export (PMID:11925436)
• Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase. (PMID:11927591)
• It is structurally homologous to BRCA1 (it shares the conserved RING finger and BRCT domains); may be involved in tumor suppression because BARD1-BRCA1 complexes in ubiquination of RNA Pol II and BARD1 interacts with CstF-50 (inhibiting mRNA processing). (PMID:11943588)
• BRCA1 and BARD1 are associated with the RNA polymerase II holoenzyme. (PMID:12154023)
• enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein (PMID:12431996)
• Purified RINGs, including BARD1, self-assemble into supramolecular structures in vitro that resemble those they form in cells. Self-assembly controls and amplifies E3 ubiquitin conjugation activity of BARD1:BRCA1. (PMID:12438698)
• BRCA1/BARD1 catalyses the formation of multiple polyubiquitin chains on itself and potentiates the E3 ubiquitin ligase activity of the BRCA1/BARD1 complex >20-fold (PMID:12485996)
• Forms a heterodimer with BRCA1 and the resulting complex functions as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains. (PMID:12890688)
• Data show that expression of truncated mouse or human BARD1 peptides capable of interacting with Brca1 results in a homologous-repair deficiency. (PMID:14560035)
• BRCA1-BARD1 mediates novel polyubiquitin chains that may be distinctly edited by 26 S proteasome from conventional Lys-48-linked polyubiquitin chains. (PMID:14638690)
• BRCA1/BARD1 heterodimer formation is important for optimal nuclear targeting of BARD1 and its role in DNA repair and cell survival. (PMID:14647430)
• cooperates with BRCA1 to increase ubiquitin conjugation in cells (PMID:14976165)
• BRCA1-BARD1 complexes act as an adaptor to mediate phosphorylation of p53, influencing G(1)/S cell cycle progression after DNA damage. (PMID:15159397)
• BRCA1-BARD1 catalyzes the polyubiquitination of nucleolar phosphoprotein nucleophosmin/B23 (PMID:15184379)
• differential gene expression of Bard1, a tumor suppressor gene, plays a significant role in the proliferation of breast cancer (PMID:15218362)
• Our findings identify a novel apoptosis inhibitory function of BARD1 and suggest that nuclear retention of BRCA1-BARD1 complexes contributes to both DNA repair and cell survival. (PMID:15265711)
• results suggest a possible role for BARD1 in hereditary susceptibility to breast cancer (PMID:15342711)
• BARD1 regulation of the cell cycle is a nuclear event and may be linked to its induced expression during mitosis. (PMID:15632137)
• BRCA1 interacts with BARD1 to generate significant ubiquitin ligase activity which catalyzes nontraditional Lys-6-linked polyubiquitin chains in breast csancer. (PMID:15665273)
• BARD1, by binding to the kinase and its substrate, catalyses p53 phosphorylation. (PMID:15782130)
• BARD1 phosphorylation plays a role in the cellular response to DNA damage (PMID:15855157)
• BRCA1 and BARD1 can ubiquitinate phosphorylated RNA polymerase II (PMID:15886201)
• Missense mutations in the BARD1 gene may contribute to the cancer phenotype in breast and ovarian cancer. (PMID:16061562)
• genetic and epigenetic changes might lead to elevated cytoplasmic expression of BARD1 and that cytoplasmic BARD1 might be a poor prognostic factor for breast and ovarian cancers (PMID:16152612)
• Neither Cys557Ser nor Val507Met mutations in BARD1 have an effect on familial breast cancer susceptibility. (PMID:16333312)
• BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation. (PMID:16768547)
• The Cys557Ser mutation within the BARD1 gene is associated with an increased risk of breast cancer. (PMID:16825437)
• The ubiquitin-proteasome degradation pathway plays a significant role in the coordinated protein stability of BRCA1 and its partner BARD1 in ovarian granulosa cells. (PMID:17185394)
• ERalpha associated with the ninth intron of the endogenous BARD 1 gene in MCF-7 cells. (PMID:17275994)
• BARD1 mutations may predispose to breast cancer in Poland (PMID:17333333)
• we were unable to identify either qualitatively or quantitatively tumor-specific expression patterns of the identified BARD1 splicing variants. (PMID:17497650)
• the BARD1 BRCT structure provides insights into the mechanisms by which the cancer-associated missense mutations C645R, V695L, and S761N may adversely affect the structure and function of BARD1. (PMID:17550235)
• Expression of BARD1 and its isoforms is temporally and spatially regulated by human chorionic gonadotropin and by hypoxia, both factors known to regulate the invasive phase and proliferation of cytotrophoblasts. (PMID:17556008)
• BARD1 may regulate the transcriptional activities of p53 as tumor suppressors (PMID:17678435)
• BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer. (PMID:17972171)
• BARD1 isoform expression is required for cancer cell proliferation, which is compatible with the notion that BARD1 isoforms act as cancer maintenance genes in gynecological cancers. (PMID:18089818)
• We propose that BARD1 reduces BRCA1 transcriptional activity, and that this at least partly involves BRCA1/BARD1 E3 ubiquitin ligase activity, which is disrupted by the C61G mutation. (PMID:18243530)
• crystallographic analysis of the BARD1 ankyrin repeat domain and its functional consequences (PMID:18480049)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bard1	ENSDARG00000076733
mus_musculus	Bard1	ENSMUSG00000026196
rattus_norvegicus	Bard1	ENSRNOG00000014960
drosophila_melanogaster	CG7457	FBGN0035812
caenorhabditis_elegans		WBGENE00011802

Protein

Protein identifiers

BRCA1-associated RING domain protein 1 — Q99728 (reviewed: Q99728)

Alternative names: RING-type E3 ubiquitin transferase BARD1

All UniProt accessions (9): Q99728, A0A087WZ19, A0A087X0C6, A0A087X2H0, A0A494C142, C9IYG1, C9J6M1, F6MDI1, F8WCG2

UniProt curated annotations — full annotation on UniProt →

Function. 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.

Subunit / interactions. Homo- and heterodimer. Heterodimer (RING-type zinc finger) with BRCA1. Heterodimer (via ANK repeats and BRCT domains) with CSTF1/CSTF-50. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Interacts with UBXN1.

Subcellular location. Nucleus.

Post-translational modifications. Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1 heterodimer.

Pathway. Protein modification; protein ubiquitination.

Isoforms (4)

UniProt ID	Names	Canonical?
Q99728-1	1, FL	yes
Q99728-2	alpha
Q99728-3	beta
Q99728-4	gamma

RefSeq proteins (5): NP_000456, NP_001269472, NP_001269474, NP_001269477, NP_001269478 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001357	BRCT_dom	Domain
IPR001841	Znf_RING	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR036420	BRCT_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039503	BARD1_Znf-RING	Domain

Pfam: PF00533, PF12796, PF14835

Enzyme classification (BRENDA):

• EC 2.3.2.27 — RING-type E3 ubiquitin transferase (BRENDA: 28 organisms, 138 substrates, 10 inhibitors, 1 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[UBE2W]-S-UBIQUITINYL-L-CYSTEINE	0.3014	1

UniProt features (83 total): helix 22, strand 14, sequence variant 13, region of interest 5, splice variant 5, repeat 4, modified residue 4, cross-link 4, turn 4, compositionally biased region 2, sequence conflict 2, domain 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
6M14	X-RAY DIFFRACTION	1.88
2NTE	X-RAY DIFFRACTION	1.9
3C5R	X-RAY DIFFRACTION	2
2R1Z	X-RAY DIFFRACTION	2.1
3FA2	X-RAY DIFFRACTION	2.2
7LYC	ELECTRON MICROSCOPY	2.94
7E8I	ELECTRON MICROSCOPY	3.1
7LYB	ELECTRON MICROSCOPY	3.28
8GRQ	ELECTRON MICROSCOPY	3.87
7JZV	ELECTRON MICROSCOPY	3.9
1JM7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99728-F1	64.82	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (8): 186, 299, 391, 394, 160, 170, 423, 548

Function

Pathways and Gene Ontology

Reactome pathways

42 pathways

ID	Pathway
R-HSA-5685938	HDR through Single Strand Annealing (SSA)
R-HSA-5685942	HDR through Homologous Recombination (HRR)
R-HSA-5689603	UCH proteinases
R-HSA-5689901	Metalloprotease DUBs
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange
R-HSA-5693607	Processing of DNA double-strand break ends
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-69473	G2/M DNA damage checkpoint
R-HSA-9663199	Defective DNA double strand break response due to BRCA1 loss of function
R-HSA-9699150	Defective DNA double strand break response due to BARD1 loss of function
R-HSA-9701192	Defective homologous recombination repair (HRR) due to BRCA1 loss of function
R-HSA-9704331	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
R-HSA-9709570	Impaired BRCA2 binding to RAD51
R-HSA-9709603	Impaired BRCA2 binding to PALB2
R-HSA-1640170	Cell Cycle
R-HSA-1643685	Disease
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-392499	Metabolism of proteins
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5688426	Deubiquitination
R-HSA-5693532	DNA Double-Strand Break Repair
R-HSA-5693537	Resolution of D-Loop Structures
R-HSA-5693538	Homology Directed Repair

MSigDB gene sets: 429 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, GOBP_RESPONSE_TO_IONIZING_RADIATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, FISCHER_G1_S_CELL_CYCLE, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_EXPORT_FROM_NUCLEUS, FRASOR_RESPONSE_TO_SERM_OR_FULVESTRANT_DN, GOBP_REGULATION_OF_DNA_REPAIR

GO Biological Process (21): tissue homeostasis (GO:0001894), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), protein ubiquitination (GO:0016567), negative regulation of mRNA 3’-end processing (GO:0031441), homologous recombination (GO:0035825), regulation of phosphorylation (GO:0042325), positive regulation of apoptotic process (GO:0043065), negative regulation of apoptotic process (GO:0043066), mitotic G2/M transition checkpoint (GO:0044818), positive regulation of protein catabolic process (GO:0045732), negative regulation of cell cycle (GO:0045786), negative regulation of protein export from nucleus (GO:0046826), regulation of cell cycle (GO:0051726), cellular response to ionizing radiation (GO:0071479), protein K6-linked ubiquitination (GO:0085020), DNA strand resection involved in replication fork processing (GO:0110025), regulation of DNA damage checkpoint (GO:2000001)

GO Molecular Function (13): RNA binding (GO:0003723), ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), kinase binding (GO:0019900), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), ubiquitin-modified histone reader activity (GO:0061649), histone H2AK127 ubiquitin ligase activity (GO:0140863), histone H2AK129 ubiquitin ligase activity (GO:0140864), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872), ubiquitin protein ligase activity (GO:0061630)

GO Cellular Component (11): ubiquitin ligase complex (GO:0000151), nuclear ubiquitin ligase complex (GO:0000152), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear speck (GO:0016607), BRCA1-BARD1 complex (GO:0031436), cytoplasmic ribonucleoprotein granule (GO:0036464), BRCA1-A complex (GO:0070531), BRCA1-B complex (GO:0070532), BRCA1-C complex (GO:0070533)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	3
Diseases of DNA Double-Strand Break Repair	3
Deubiquitination	2
Resolution of D-Loop Structures	2
Defective homologous recombination repair (HRR) due to PALB2 loss of function	2
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	2
DNA Double Strand Break Response	1
DNA Double-Strand Break Repair	1
HDR through Homologous Recombination (HRR)	1
Homologous DNA Pairing and Strand Exchange	1
Regulation of TP53 Activity	1
G2/M Checkpoints	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear protein-containing complex	4
DNA metabolic process	2
apoptotic process	2
regulation of apoptotic process	2
cell cycle	2
protein dimerization activity	2
histone H2A ubiquitin ligase activity	2
cellular anatomical structure	2
multicellular organismal-level homeostasis	1
anatomical structure homeostasis	1
DNA damage response	1
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
chromatin organization	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cellular response to stress	1
protein modification by small protein conjugation	1
mRNA 3’-end processing	1
regulation of mRNA 3’-end processing	1
negative regulation of mRNA processing	1
DNA recombination	1
phosphorylation	1
regulation of metabolic process	1
positive regulation of programmed cell death	1
negative regulation of programmed cell death	1
mitotic cell cycle checkpoint signaling	1
negative regulation of G2/M transition of mitotic cell cycle	1
positive regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
positive regulation of protein metabolic process	1
negative regulation of cellular process	1
regulation of cell cycle	1
protein export from nucleus	1
negative regulation of nucleocytoplasmic transport	1
regulation of protein export from nucleus	1
maintenance of protein location in nucleus	1
negative regulation of intracellular protein transport	1

Protein interactions and networks

STRING

3430 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BARD1	BRCA2	P51587	996
BARD1	UIMC1	Q96RL1	996
BARD1	BABAM2	Q9NXR7	995
BARD1	BRCC3	P46736	994
BARD1	RAD51	Q06609	994
BARD1	BRCA1	P38398	993
BARD1	ABRAXAS1	Q6UWZ7	993
BARD1	CSTF1	Q05048	987
BARD1	BABAM1	Q9NWV8	986
BARD1	PALB2	Q86YC2	967
BARD1	BAP1	Q92560	948
BARD1	RAD51C	O43502	931
BARD1	RBBP8	Q99708	918
BARD1	OLA1	Q9NTK5	914
BARD1	ATM	Q13315	893

IntAct

165 interactions, top by confidence:

A	B	Type	Score
BRCA1	BARD1	psi-mi:“MI:0915”(physical association)	0.960
BRCA1	BARD1	psi-mi:“MI:0407”(direct interaction)	0.960
BARD1	BRCA1	psi-mi:“MI:0915”(physical association)	0.960
BARD1	BRCA1	psi-mi:“MI:0407”(direct interaction)	0.960
LDOC1	BARD1	psi-mi:“MI:0915”(physical association)	0.780
BARD1	LDOC1	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	BARD1	psi-mi:“MI:0915”(physical association)	0.720
BARD1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.720
BARD1	CSTF2	psi-mi:“MI:0915”(physical association)	0.700
CSTF2	BARD1	psi-mi:“MI:0915”(physical association)	0.700
BARD1	CSTF2	psi-mi:“MI:0914”(association)	0.700
BRCA1	BRCA1	psi-mi:“MI:0914”(association)	0.650
	BARD1	psi-mi:“MI:0407”(direct interaction)	0.650
BARD1		psi-mi:“MI:0407”(direct interaction)	0.650
	BARD1	psi-mi:“MI:0915”(physical association)	0.650
	BARD1	psi-mi:“MI:0403”(colocalization)	0.650

BioGRID (635): GOLGA2 (Two-hybrid), TRAF1 (Two-hybrid), SPAG5 (Two-hybrid), EXOC5 (Two-hybrid), LDOC1 (Two-hybrid), CCDC136 (Two-hybrid), CEP70 (Two-hybrid), KRT40 (Two-hybrid), FAM9B (Two-hybrid), BRCA1 (Two-hybrid), BARD1 (Affinity Capture-MS), BRCA1 (Affinity Capture-Western), BARD1 (Reconstituted Complex), BARD1 (Biochemical Activity), BARD1 (Biochemical Activity)

ESM2 similar proteins: A0A0G2L7I0, A0A0R4IWG9, A0JMK9, A5D979, B0BLU1, D3ZVU1, F6UH96, G3X912, O70445, O88700, P54132, P59110, Q03111, Q0VBD2, Q1LVK9, Q22557, Q24558, Q24595, Q28E45, Q5EAW4, Q5I2W8, Q5R1T0, Q5SPR8, Q5XI59, Q6A037, Q6DJS0, Q6INS5, Q6P2L6, Q6XV80, Q6ZPI0, Q71M44, Q7KW09, Q7L590, Q7T308, Q7ZVP1, Q7ZXG4, Q801E2, Q803U7, Q80Z32, Q8AXF4

Diamond homologs: A0A0R4I9Y1, A6H5X4, B6VQ60, F4I443, O08550, O15344, P10862, P15533, P20659, P82457, Q08DR0, Q0PF16, Q1ACD5, Q1ACD6, Q1ACD7, Q24742, Q2HJ93, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3UWZ0, Q3ZEE5, Q587N6, Q587N7, Q5A4N5, Q5BN31, Q5C8T8, Q5C8U1, Q5C8U3, Q5C8U4, Q5D7H7, Q5D7H8, Q5D7I0, Q5D7I1, Q5D7I2, Q5D7I3, Q5D7I5, Q5D7I6, Q5D7I9

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
BARD1	up-regulates	BRCA1	binding
Ub:E2	“up-regulates activity”	BARD1	ubiquitination
BARD1	“down-regulates quantity”	ESR1	ubiquitination
CDK2	“down-regulates activity”	BARD1	phosphorylation
BARD1	“form complex”	“BRCA1-BARD1 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of TP53 Activity through Acetylation	5	36.2×	3e-05
Nonhomologous End-Joining (NHEJ)	10	26.7×	2e-09
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	10	23.2×	4e-09
G2/M DNA damage checkpoint	10	19.1×	2e-08
Processing of DNA double-strand break ends	9	16.3×	5e-07
TP53 Regulates Transcription of DNA Repair Genes	5	14.4×	1e-03
Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex	5	12.9×	2e-03
Regulation of TP53 Activity	6	12.7×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of DNA repair	5	22.7×	8e-04
double-strand break repair	7	18.0×	5e-05
proteasome-mediated ubiquitin-dependent protein catabolic process	9	5.9×	5e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — PRAD.

Clinical variants and AI predictions

ClinVar

4653 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	444
Likely pathogenic	143
Uncertain significance	2124
Likely benign	737
Benign	157

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1049655	NM_000465.4(BARD1):c.1904-502_*2del	Pathogenic
1050223	NM_000465.4(BARD1):c.1569-1_1677+2del	Pathogenic
1065537	NM_000465.2:c.(1903+1_1904-1)_(2001+1_2002-1)dup	Pathogenic
1068665	NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT (p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer)	Pathogenic
1070088	NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter)	Pathogenic
1070091	NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)	Pathogenic
1070148	NC_000002.11:g.(?215617161)(215617289_?)del	Pathogenic
1070149	NC_000002.11:g.(?215645274)(215674293_?)del	Pathogenic
1070150	NC_000002.11:g.(?215617161)(215674293_?)del	Pathogenic
1070151	NC_000002.11:g.(?215593400)(215657179_?)del	Pathogenic
1070152	NC_000002.11:g.(?215593400)(215646243_?)del	Pathogenic
1072209	NM_000465.4(BARD1):c.616dup (p.Gln206fs)	Pathogenic
1073711	NM_000465.4(BARD1):c.1535del (p.Leu512fs)	Pathogenic
1073954	NC_000002.11:g.(?215590360)(215674445_?)del	Pathogenic
1073955	NC_000002.11:g.(?215645274)(215646243_?)del	Pathogenic
1074066	NM_000465.4(BARD1):c.925dup (p.Thr309fs)	Pathogenic
1076077	NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)	Pathogenic
1076131	NC_000002.11:g.(?215593394)(215634042_?)del	Pathogenic
1076132	NC_000002.11:g.(?215593400)(215617289_?)del	Pathogenic
1076133	NC_000002.11:g.(?215593400)(215610588_?)del	Pathogenic
1076501	NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)	Pathogenic
1076949	NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs)	Pathogenic
127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	Pathogenic
127742	NM_000465.4(BARD1):c.623dup (p.Lys209fs)	Pathogenic
1366276	NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter)	Pathogenic
1375539	NM_000465.4(BARD1):c.1068_1071del (p.Ile357fs)	Pathogenic
1379809	NC_000002.11:g.(?215661775)(215674293_?)del	Pathogenic
1400811	NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)	Pathogenic
1404252	NM_000465.4(BARD1):c.185_186del (p.Cys62fs)	Pathogenic
1405632	NM_000465.4(BARD1):c.99del (p.Trp34fs)	Pathogenic

SpliceAI

2422 predictions. Top by Δscore:

Variant	Effect	Δscore
2:214729009:C:CC	acceptor_gain	1.0000
2:214730410:CCAG:C	donor_gain	1.0000
2:214730506:CCC:C	acceptor_gain	1.0000
2:214730507:CCC:C	acceptor_gain	1.0000
2:214745065:A:AC	donor_gain	1.0000
2:214745066:C:CC	donor_gain	1.0000
2:214745066:CATT:C	donor_gain	1.0000
2:214745139:C:CT	acceptor_gain	1.0000
2:214745158:TA:T	acceptor_gain	1.0000
2:214745160:C:CC	acceptor_gain	1.0000
2:214745855:C:CC	acceptor_gain	1.0000
2:214752445:A:AC	donor_gain	1.0000
2:214752446:C:CC	donor_gain	1.0000
2:214752446:CTA:C	donor_gain	1.0000
2:214767479:T:TG	donor_loss	1.0000
2:214767480:A:AC	donor_gain	1.0000
2:214767480:ACACA:A	donor_loss	1.0000
2:214767481:C:A	donor_loss	1.0000
2:214767481:C:CG	donor_gain	1.0000
2:214767481:CA:C	donor_gain	1.0000
2:214767481:CACA:C	donor_gain	1.0000
2:214767481:CACAG:C	donor_gain	1.0000
2:214767653:TG:T	acceptor_gain	1.0000
2:214767654:GC:G	acceptor_loss	1.0000
2:214767655:C:CC	acceptor_gain	1.0000
2:214767655:CT:C	acceptor_loss	1.0000
2:214767656:T:A	acceptor_loss	1.0000
2:214767659:T:C	acceptor_gain	1.0000
2:214767659:T:TC	acceptor_gain	1.0000
2:214767664:T:C	acceptor_gain	1.0000

AlphaMissense

5127 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:214769243:A:G	W462R	0.996
2:214769243:A:T	W462R	0.996
2:214767643:G:C	C469W	0.995
2:214769254:T:G	D458A	0.995
2:214769255:C:G	D458H	0.995
2:214769254:T:A	D458V	0.994
2:214792414:A:G	C83R	0.994
2:214809422:A:G	C50R	0.994
2:214745067:A:G	W635R	0.993
2:214745067:A:T	W635R	0.993
2:214752552:A:C	N524K	0.993
2:214752552:A:T	N524K	0.993
2:214767644:C:T	C469Y	0.993
2:214767645:A:G	C469R	0.993
2:214767648:C:G	A468P	0.993
2:214769253:G:C	D458E	0.993
2:214769253:G:T	D458E	0.993
2:214767611:A:G	L480S	0.992
2:214769236:G:C	P464R	0.992
2:214767548:G:T	A501E	0.991
2:214769236:G:T	P464Q	0.991
2:214780567:G:T	S436Y	0.991
2:214769241:C:A	W462C	0.990
2:214769241:C:G	W462C	0.990
2:214769296:A:T	V444D	0.990
2:214767512:A:G	L513S	0.989
2:214767549:C:G	A501P	0.989
2:214767557:A:T	L498H	0.989
2:214767647:G:T	A468D	0.989
2:214792413:C:G	C83S	0.989

dbSNP variants (sampled 300 via entrez): RS1000035643 (2:214742707 A>AGGCATATT), RS1000044906 (2:214779337 T>C), RS1000061071 (2:214733722 A>T), RS1000069606 (2:214790239 A>G), RS1000176032 (2:214796139 T>C), RS1000180872 (2:214739922 T>C), RS1000191145 (2:214775679 G>A), RS1000292745 (2:214807509 T>G), RS1000293460 (2:214802069 A>G), RS1000314147 (2:214734514 A>G), RS1000333251 (2:214762730 C>A,T), RS1000333459 (2:214727858 T>C), RS1000356163 (2:214772900 G>A), RS1000425630 (2:214734675 T>A), RS1000445830 (2:214807765 T>A,C)

Disease associations

OMIM: gene MIM:601593 | disease phenotypes: MIM:114480, MIM:608456, MIM:167000, MIM:613659, MIM:260350, MIM:211980, MIM:612555, MIM:254500

GenCC curated gene-disease

Disease	Classification	Inheritance
BARD1-related cancer predisposition	Definitive	Autosomal dominant
breast cancer	Definitive	Autosomal dominant
hereditary breast carcinoma	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
familial ovarian cancer	Disputed	AD
BARD1-related cancer predisposition	Definitive	AD

Mondo (20): hereditary breast carcinoma (MONDO:0016419), hereditary neoplastic syndrome (MONDO:0015356), hereditary breast ovarian cancer syndrome (MONDO:0003582), breast cancer (MONDO:0007254), BARD1-related cancer predisposition (MONDO:0700267), colon carcinoma (MONDO:0002032), endometrial carcinoma (MONDO:0002447), familial adenomatous polyposis 2 (MONDO:0012041), ovarian cancer (MONDO:0008170), gastric cancer (MONDO:0001056), familial pancreatic carcinoma (MONDO:0015278), familial ovarian cancer (MONDO:0016248), lung cancer (MONDO:0008903), thyroid cancer (MONDO:0002108), breast carcinoma (MONDO:0004989)

Orphanet (11): Hereditary breast cancer (Orphanet:227535), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Attenuated familial adenomatous polyposis (Orphanet:220460), MUTYH-related polyposis (Orphanet:247798), Rare ovarian cancer (Orphanet:213500), Familial pancreatic carcinoma (Orphanet:1333), Hepatoblastoma (Orphanet:449), Multiple myeloma (Orphanet:29073), AL amyloidosis (Orphanet:85443), OBSOLETE: Familial ovarian cancer (Orphanet:213517)

HPO phenotypes

9 total (10 of 9 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001442	Typified by somatic mosaicism
HP:0002861	Melanoma
HP:0002894	Neoplasm of the pancreas
HP:0003002	Breast carcinoma
HP:0011027	Abnormal fallopian tube morphology
HP:0012125	Prostate cancer
HP:0030406	Primary peritoneal carcinoma
HP:0100615	Ovarian neoplasm
HP:0012114	Endometrial carcinoma

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000384_1	Neuroblastoma (high-risk)	9.000000e-18
GCST000901_1	Neuroblastoma	5.000000e-13
GCST001660_1	Neuroblastoma	4.000000e-14
GCST004510_1	Sporadic neuroblastoma	3.000000e-11
GCST004885_2	Neuroblastoma (MYCN amplification)	6.000000e-14
GCST006940_128	Neurociticism	2.000000e-08
GCST006947_41	Feeling fed-up	2.000000e-08
GCST007325_38	General risk tolerance (MTAG)	4.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0009588	feeling “fed-up” measurement
EFO:0008579	risk-taking behaviour

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D001943	Breast Neoplasms	C04.588.180; C17.800.090.500
D018197	Hepatoblastoma	C04.557.435.380
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009101	Multiple Myeloma	C04.557.595.500; C14.907.454.460; C15.378.147.780.650; C15.378.463.515.460; C20.683.515.845; C20.683.780.650
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
C562840	Breast Cancer, Familial (supp.)
C563924	Colorectal Adenomatous Polyposis, Autosomal Recessive (supp.)
C535837	Pancreatic carcinoma, familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 2 predictive associations from 2 curated evidence items.

Variant	Therapy	Indication	Effect	Level	CIViC
BARD1 Mutation	Olaparib	Castration-resistant Prostate Carcinoma	Sensitivity/Response	CIViC A	EID11209
BARD1 Loss-of-function	Olaparib	Colorectal Cancer	Sensitivity/Response	CIViC D	EID5953

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2070096	Efficacy	3	carboplatin;docetaxel;trastuzumab	Breast Neoplasms

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2070096	BARD1	3	2.50	1	carboplatin;docetaxel;trastuzumab
rs2229571	BARD1		0.00	0

Binding affinities (BindingDB)

19 measured of 20 human assays (20 total across all organisms); most potent 19 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
2-hydroxy-6-isopropyl-cyclohepta-2,4,6-trien-1-one	KI	3.32 nM	US-9790158: Substituted tropolone derivatives and methods of use
SMR000206694	IC50	3.53 nM
(3Z,5E)-1-ethyl-3,5-bis(3-hydroxy-4-methoxy-benzylidene)-4-piperidone	EC50	380 nM
MLS000051475	IC50	1180 nM
(3,4-Dihydro-2H-quinolin-1-yl)-acetic acid [1-(2-hydroxy-naphthalen-1-yl)-meth-(E)-ylidene]-hydrazide	IC50	1970 nM
(2-fluorophenyl)-[5-[1-(2-methoxyethyl)-2,5-dimethyl-pyrrol-3-yl]-6H-1,3,4-thiadiazin-2-yl]amine	EC50	3040 nM
O4-[2-[(diphenylmethyl)amino]-2-oxidanylidene-ethyl] O1-ethyl (E)-but-2-enedioate	IC50	3900 nM
SMR000612014	IC50	4130 nM
2-nitro-N-quinolin-8-yl-benzenesulfonamide	IC50	4370 nM
5-(4-acetylphenyl)-N-[4-(2-pyridinyl)-2-thiazolyl]-2-furancarboxamide	IC50	4850 nM
cid_6517668	IC50	5350 nM
MLS000778288	IC50	6640 nM
4-[2-(4,5-dichloro-6-oxo-1-pyridazinyl)-1-oxoethyl]-3,3-dimethyl-1H-quinoxalin-2-one	IC50	8390 nM
2-chloro-N-[2-[(2-chloropyridine-3-carbonyl)amino]-4-(diethylsulfamoyl)phenyl]pyridine-3-carboxamide	IC50	10100 nM
SMR000631236	IC50	10600 nM
SMR000142674	IC50	12300 nM
N-[4-[5-(3,4,5-trimethoxyphenyl)-1,2,4-oxadiazol-3-yl]phenyl]-1,3-benzodioxole-5-carboxamide	IC50	13400 nM
4-[(4-amino-6,7-dimethoxy-2-quinazolinyl)amino]benzoic acid ethyl ester	IC50	14300 nM
(4,8-dimethylquinazolin-2-yl)-[3-(3-morpholinopropyl)-2,4-dihydro-1H-s-triazin-6-yl]amine	EC50	34300 nM

CTD chemical–gene interactions

79 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
Valproic Acid	decreases expression, increases expression, affects expression	4
Cyclosporine	affects expression, decreases expression	3
Cadmium Chloride	decreases expression	3
bisphenol A	decreases expression, increases expression	2
palbociclib	decreases expression	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Aflatoxin B1	increases expression, affects expression	2
aristolochic acid I	decreases expression	1
abemaciclib	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
pradimicin-IRD	decreases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	decreases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
titanium dioxide	affects binding, decreases expression	1
riddelliine	decreases expression, increases metabolic processing	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
periodate-oxidized adenosine	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_2682	PEA1	Cancer cell line	Female
CVCL_2683	PEA2	Cancer cell line	Female
CVCL_B8SR	Abcam MCF-7 BARD1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

375 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00014638	PHASE4	COMPLETED	Letrozole in Treating Postmenopausal Women With Metastatic Breast Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00082277	PHASE4	COMPLETED	Anastrozole Biphosphonate Study in Postmenopausal Women With Hormone-Receptor-Positive Early Breast Cancer
NCT00087620	PHASE4	TERMINATED	A Study of Capecitabine In Combination With Docetaxel vs Capecitabine Followed by Docetaxel As First-Line Treatment For Metastatic Breast Cancer
NCT00121836	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) in Women With HER2-Negative Metastatic Breast Cancer
NCT00126360	PHASE4	UNKNOWN	STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot)
NCT00127933	PHASE4	COMPLETED	XeNA Study - A Study of Xeloda (Capecitabine) in Patients With Invasive Breast Cancer
NCT00128297	PHASE4	COMPLETED	Pamidronate Administration in Breast Cancer Patients With Bone Metastases
NCT00129597	PHASE4	UNKNOWN	Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy
NCT00131170	PHASE4	COMPLETED	Paravertebral Block for Breast Surgery
NCT00156039	PHASE4	COMPLETED	Randomized Trial of Follow-up Strategies in Breast Cancer
NCT00160901	PHASE4	COMPLETED	Complementary Therapies for the Reduction of Side Effects During Chemotherapy for Breast Cancer
NCT00171847	PHASE4	TERMINATED	Study of the Efficacy and Safety of Letrozole Combined With Trastuzumab in Patients With Metastatic Breast Cancer
NCT00176046	PHASE4	COMPLETED	Mistletoe Extract in Early or Advanced Breast Cancer, A Feasibility Study
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
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