BARD1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:601593 Ensembl IDEnsembl:ENSG00000138376 HGNC IDHGNC:HGNC:952 PHARMGKB IDPA25256 Map Location2q35 |
GO terms in BARD1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | NAS | GO:0000151 | ubiquitin ligase complex |
CC | IDA | GO:0005634 | nucleus |
CC | IMP | GO:0005634 | nucleus |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IDA | GO:0005737 | cytoplasm |
CC | IDA | GO:0016607 | nuclear speck |
Gene expression in normal tissue: BARD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BARD1
Database | Pathway ID | Pathway Des. |
---|---|---|
pid | bard1pathway | BARD1 signaling events |
kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
wikipathways | WP1984 | Integrated Breast Cancer Pathway |
wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-212436 | Generic Transcription Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in BARD1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |