BRCA2
Summary: Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600185 Ensembl IDEnsembl:ENSG00000139618 HGNC IDHGNC:HGNC:1101 PHARMGKB IDPA25412 Map Location13q13.1 | |||||
GO terms in BRCA2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0002020 | protease binding |
| MF | IPI | GO:0002020 | protease binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IBA | GO:0004402 | histone acetyltransferase activity |
| MF | IDA | GO:0004402 | histone acetyltransferase activity |
Gene expression in normal tissue: BRCA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BRCA2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP186 | Homologous recombination |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| pid | atr_pathway | ATR signaling pathway |
| pid | deltanp63pathway | Validated transcriptional targets of deltaNp63 isoforms |
| pid | fanconi_pathway | Fanconi anemia pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BRCA2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.