| Structural highlights
Disease
XRCC2_HUMAN Fanconi anemia;Hereditary breast cancer;Male infertility with azoospermia or oligozoospermia due to single gene mutation. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
XRCC2_HUMAN Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.[1] [2] [3] [4] [5]
References
- ↑ Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC. Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev. 2001 Dec 15;15(24):3296-307. PMID:11751635 doi:10.1101/gad.947001
- ↑ Kurumizaka H, Ikawa S, Nakada M, Enomoto R, Kagawa W, Kinebuchi T, Yamazoe M, Yokoyama S, Shibata T. Homologous pairing and ring and filament structure formation activities of the human Xrcc2*Rad51D complex. J Biol Chem. 2002 Apr 19;277(16):14315-20. PMID:11834724 doi:10.1074/jbc.M105719200
- ↑ Cappelli E, Townsend S, Griffin C, Thacker J. Homologous recombination proteins are associated with centrosomes and are required for mitotic stability. Exp Cell Res. 2011 May 1;317(8):1203-13. PMID:21276791 doi:10.1016/j.yexcr.2011.01.021
- ↑ Chun J, Buechelmaier ES, Powell SN. Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway. Mol Cell Biol. 2013 Jan;33(2):387-95. PMID:23149936 doi:10.1128/MCB.00465-12
- ↑ Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H. Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2. Hum Mutat. 2016 Sep;37(9):914-25. PMID:27233470 doi:10.1002/humu.23019
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