Tumor suppressor protein that maintains genome stability primarily by repairing damaged DNA through homologous recombination (HR) (PubMed:11239456, PubMed:12442171, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:15937124, PubMed:17515903, PubMed:17515904, PubMed:18317453, PubMed:19303847, PubMed:20729832, PubMed:20729858, PubMed:20729859, PubMed:21719596, PubMed:27941124, PubMed:37499663, PubMed:37515771). Facilitates the repair of double- strand breaks (DSBs) by binding and mediating the loading of the RAD51 protein onto single-stranded DNA (ssDNA), thereby promoting the activity of RAD51, which catalyzes DNA strand exchange (PubMed:11239456, PubMed:12442171, PubMed:15937124, PubMed:17515903, PubMed:17515904, PubMed:18317453, PubMed:19303847, PubMed:20729832, PubMed:20729858, PubMed:20729859, PubMed:27941124, PubMed:37499663). BRCA2 nucleates and stabilizes RAD51 on ssDNA directly and delivers RAD51 to ssDNA-double-stranded DNA (dsDNA) junctions by sliding along dsDNA backbone (PubMed:12442171, PubMed:19303847, PubMed:37499663). RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilization of RAD51-ssDNA filaments by blocking ATP hydrolysis (PubMed:20729859). May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity (PubMed:24485656). Required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability (PubMed:24896180). Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180). Also promotes RAD51 loading to telomeric regions, facilitating telomere replication and capping (PubMed:21076401). Also required for homologous recombination during meiosis by promoting the recruitment of RAD51 and DMC1 recombinases to meiotic DSB sites, enabling proper chromosome pairing and crossing over (PubMed:26976601). Also promotes homologous recombination by inactivating the FIGNL1-FIRRM complex to protect RAD51 filament from premature disassembly (PubMed:37515771). Together with NPM1, may also regulate centrosome duplication (PubMed:21084279). {ECO:0000269|PubMed:11239456, ECO:0000269|PubMed:12442171, ECO:0000269|PubMed:15115758, ECO:0000269|PubMed:15199141, ECO:0000269|PubMed:15671039, ECO:0000269|PubMed:15937124, ECO:0000269|PubMed:17515903, ECO:0000269|PubMed:17515904, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:19303847, ECO:0000269|PubMed:20729832, ECO:0000269|PubMed:20729858, ECO:0000269|PubMed:20729859, ECO:0000269|PubMed:21076401, ECO:0000269|PubMed:21084279, ECO:0000269|PubMed:21719596, ECO:0000269|PubMed:24485656, ECO:0000269|PubMed:24896180, ECO:0000269|PubMed:26976601, ECO:0000269|PubMed:27941124, ECO:0000269|PubMed:37499663, ECO:0000269|PubMed:37515771}.
Chromosome
13
Biotype
protein_coding
Diseases
25
Variants
0
Also Known As
25 disease associations found
| Disease | Score | Therapeutic Areas |
|---|---|---|
| breast cancer | 0.84 | reproductive system or breast diseasecancer or benign tumor |
| Fanconi anemia complementation group D1 | 0.84 | immune system disorderhematologic disordergenetic, familial or congenital diseasenutritional or metabolic diseasemusculoskeletal or connective tissue diseasephenotype |
| cancer | 0.81 | cancer or benign tumor |
| breast neoplasm | 0.81 | reproductive system or breast diseasecancer or benign tumor |
| breast carcinoma | 0.80 | reproductive system or breast diseasecancer or benign tumor |
| breast-ovarian cancer, familial, susceptibility to, 2 | 0.80 | genetic, familial or congenital diseasecancer or benign tumor |
| Hereditary breast and ovarian cancer syndrome | 0.79 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumorendocrine system disorder |
| ovarian cancer | 0.78 | endocrine system disorderreproductive system or breast diseasecancer or benign tumor |
| hereditary breast carcinoma | 0.76 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| Hereditary breast cancer | 0.76 | genetic, familial or congenital diseasereproductive system or breast diseasecancer or benign tumor |
| medulloblastoma | 0.74 | cancer or benign tumornervous system disorder |
| prostate cancer | 0.74 | reproductive system or breast diseasecancer or benign tumor |
| prostate carcinoma | 0.74 | cancer or benign tumorreproductive system or breast disease |
| glioma susceptibility 3 | 0.73 | genetic, familial or congenital diseasecancer or benign tumor |
| Familial prostate cancer | 0.72 | urinary system disordergenetic, familial or congenital diseasecancer or benign tumorreproductive system or breast disease |
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