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breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein, BRCA2, FACD, FANCD1)
Function:
- role in double-strand break repair &/or homologous recombination
- may participate in S phase checkpoint activation
- elevated levels at G1/S transition, remain elevated into G2
- interacts with RAD51 & DSS1
- interacts with ubiquitinated FANCD2
- interacts with PALB2
- enables the recombinational repair & checkpoints functions
- interacts with WDR16
- phosphorylated by ATM upon irradiation-induced DNA damage
Structure: contains 8 BRCA2 repeats
Expression:
- expressed in breast & thymus > lung, ovary & spleen
Pathology:
1) defects in BRCA2 are a cause of genetic susceptibility to
a) breast cancer
b) ovarian cancer
b) Fanconi anemia complementation group D type 1
2) genetic variations in BRCA2 may underlie susceptibility to uveal melanoma
3) pathogenic variants in BRCA1 & BRCA2 are associated with increased risk of
- esophageal cancer
- gastric cancer
- biliary tract cancer
- prostate cancer [8]
Laboratory:
- BRCA2 gene mutation
- BRCA2 Ag in tissue
Interactions
molecular events
Related
breast cancer susceptibility gene-2 [BRCA-2]
General
other protein
Properties
SIZE: entity length = 3418 aa
MW = 384 kD
MOTIF: PALB2 interaction {1-40}
Ser phosphorylation site {S683}
Ser phosphorylation site {S755}
BRCA2 {1002-1036}
BRCA2 {1212-1246}
BRCA2 {1421-1455}
BRCA2 {1517-1551}
BRCA2 {1664-1698}
BRCA2 {1837-1871}
BRCA2 {1971-2005}
BRCA2 {2051-2085}
FANCD2 interaction {2350-2545}
References
- Wooster R, Stratton MR.
Breast cancer susceptibility: a complex disease unravels.
Trends Genet. 1995 Jan;11(1):3-5. Review.
PMID: 7900193
- Zhang H, Tombline G, Weber BL.
BRCA1, BRCA2, and DNA damage response: collision or collusion?
Cell. 1998 Feb 20;92(4):433-6. Review.
PMID: 9491884
- Entrez Gene :accession 675
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpd1.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BRCA2
- Wikipedia; BRCA2 entry
http://en.wikipedia.org/wiki/BRCA2
- UniProt :accession P51587
- Momozawa Y et al.
Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants.
JAMA Oncol 2022 Apr 14; [e-pub]
PMID: 35420638 PMCID: PMC9011177 Free PMC article
https://jamanetwork.com/journals/jamaoncology/fullarticle/2791277
Component-of
molecular complex
Databases & Figures
OMIM correlations
MORBIDMAP 600185
UniProt P51587
PFAM correlations
Entrez Gene 675
Kegg hsa:675
Double strand break repair: homologous recombination