Breast cancer type 2 susceptibility protein
Also known as: BRCA2, FACD, FANCD1
Function
Tumor suppressor protein that maintains genome stability primarily by repairing damaged DNA through homologous recombination (HR). 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. BRCA2 nucleates and stabilizes RAD51 on ssDNA directly and delivers RAD51 to ssDNA-double-stranded DNA (dsDNA) junctions by sliding along dsDNA backbone. RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilization of RAD51-ssDNA filaments by blocking ATP hydrolysis. 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. Required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. 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. Also promotes RAD51 loading to telomeric regions, facilitating telomere replication and capping. 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. Also promotes homologous recombination by inactivating the FIGNL1-FIRRM complex to protect RAD51 filament from premature disassembly. Together with NPM1, may also regulate centrosome duplication.
Classification
- Family (Pfam)
- PF09169 BRCA-2_helical, PF09103 BRCA-2_OB1, PF09104 BRCA-2_OB3, PF00634 BRCA2, PF22687 BRCA2_TR2, PF21318 BRCA2DBD_OB2, PF09121 Tower
- InterPro
- BRCA2, BRCA2_hlx, BRCA2_hlx_sf, BRCA2_OB_1, BRCA2_OB_2_dom, BRCA2_OB_3, BRCA2_repeat, BRCA2_TR2, NA-bd_OB-fold, Tower_dom
- Functional cluster
- Zinc-Finger & Chromatin Regulatory Proteins
Experimental structures · PDB · 14
- 1N0W X-ray 1.70A
- 3EU7 X-ray 2.20A
- 6GY2 X-ray 3.11A
- 6HQU X-ray 1.97A
- 7BDX X-ray 2.60A
- 7LDG X-ray 2.56A
- 8BR9 X-ray 1.63A
- 8C3J X-ray 3.02A
- 8C3N X-ray 1.21A
- 8PBC EM 2.61A
- 8PBD EM 2.83A
- 8QQE X-ray 3.46A
- … and 2 more
A predicted model is available from AlphaFold.
Gene Ontology · 28
- GO:0033593 BRCA2-MAGE-D1 complex
- GO:0005813 centrosome
- GO:0000781 chromosome, telomeric region
- GO:0005829 cytosol
- GO:0000800 lateral element
- GO:0005654 nucleoplasm
- GO:0005634 nucleus
- GO:0032991 protein-containing complex
- GO:0030141 secretory granule
- GO:0043015 gamma-tubulin binding
- GO:0010484 histone H3 acetyltransferase activity
- GO:0010485 histone H4 acetyltransferase activity
- GO:0042802 identical protein binding
- GO:0002020 protease binding
- GO:0003697 single-stranded DNA binding
- GO:0071479 cellular response to ionizing radiation
- GO:0051298 centrosome duplication
- GO:0006302 double-strand break repair
- GO:0000724 double-strand break repair via homologous recombination
- GO:0070200 establishment of protein localization to telomere
- GO:0007141 male meiosis I
- GO:1990426 mitotic recombination-dependent replication fork processing
- GO:0033600 negative regulation of mammary gland epithelial cell proliferation
- GO:0006289 nucleotide-excision repair
- GO:0045893 positive regulation of DNA-templated transcription
- GO:2000001 regulation of DNA damage checkpoint
- GO:0006355 regulation of DNA-templated transcription
- GO:0000722 telomere maintenance via recombination
Disease associations
- hereditary breast carcinoma MONDO:0016419
- medulloblastoma MONDO:0007959
- Fanconi anemia complementation group D1 MONDO:0011584
- breast-ovarian cancer, familial, susceptibility to, 2 MONDO:0012933
- glioma susceptibility 3 MONDO:0013093
- pancreatic cancer, susceptibility to, 2 MONDO:0013235
Neighborhood · nearest proteins
Related proteins · sequence + function similarity
- Breast cancer type 2 susceptibility protein homolog 0.99
- Breast cancer type 2 susceptibility protein homolog 0.96
- Testis-expressed protein 15 0.95
- Breast cancer type 2 susceptibility protein homolog 0.95
- Breast cancer type 1 susceptibility protein homolog 0.92
- Breast cancer type 1 susceptibility protein homolog 0.92
- Breast cancer type 1 susceptibility protein homolog 0.92
- Breast cancer type 1 susceptibility protein homolog 0.92
- Breast cancer type 1 susceptibility protein 0.92
- 5'-3' DNA helicase ZGRF1 0.92
- Breast cancer type 1 susceptibility protein homolog 0.91
- Protein TOPAZ1 0.91
Co-cited proteins · studied together in the literature
- Breast cancer type 1 susceptibility protein 15 shared papers
- Meiotic recombination protein DMC1 homolog 4 shared papers
- DNA repair protein RAD51 homolog 1 12 shared papers
- Partner and localizer of BRCA2 7 shared papers
- 26S proteasome complex subunit SEM1 4 shared papers
- Fanconi anemia group D2 protein 4 shared papers
- Cilia- and flagella-associated protein 52 1 shared papers
- Ubiquitin carboxyl-terminal hydrolase 11 1 shared papers
- PCI domain-containing protein 2 1 shared papers
- Heat shock factor 2-binding protein 1 shared papers
- Adenomatous polyposis coli protein 1 shared papers
- FIGNL1-interacting regulator of recombination and mitosis 1 shared papers
Literature · 96 cited papers
- BRCA2 stabilises RAD51 and DMC1 nucleoprotein filaments through a conserved interaction mode. Nat. Commun. · 2024
- DMC1 and RAD51 bind FxxA and FxPP motifs of BRCA2 via two separate interfaces. Nucleic Acids Res. · 2024
- C1orf112 teams up with FIGNL1 to facilitate RAD51 filament disassembly and DNA interstrand cross-link repair. Cell Rep. · 2023
- Visualization of direct and diffusion-assisted RAD51 nucleation by full-length human BRCA2 protein. Mol. Cell · 2023
- HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis. Cell Rep. · 2019
- Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. · 2018
- BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? PLoS ONE · 2017
- Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. Oncogene · 2017
- A phosphorylation-deubiquitination cascade regulates the BRCA2-RAD51 axis in homologous recombination. Genes Dev. · 2016
- BRCA2 regulates DMC1-mediated recombination through the BRC repeats. Proc. Natl. Acad. Sci. U.S.A. · 2016
- Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability. Mol. Cell · 2016
- Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J. Med. Genet. · 2016
- … and 84 more in the literature graph