XRCC2

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq]

Full Name

X-ray repair complementing defective repair in Chinese hamster cells 2

Function

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.

Biological Process

Biological Process centrosome cycle Source:UniProtKB1 Publication
Biological Process DNA repair Source:BHF-UCL1 Publication
Biological Process double-strand break repair via homologous recombination Source:UniProtKB1 Publication
Biological Process in utero embryonic development Source:Ensembl
Biological Process meiotic cell cycle Source:ProtInc1 Publication
Biological Process mitotic cell cycle Source:UniProtKB1 Publication
Biological Process multicellular organism growth Source:Ensembl
Biological Process negative regulation of neuron apoptotic process Source:Ensembl
Biological Process neurogenesis Source:Ensembl
Biological Process positive regulation of neurogenesis Source:Ensembl
Biological Process regulation of fibroblast apoptotic process Source:Ensembl
Biological Process response to gamma radiation Source:Ensembl
Biological Process response to X-ray Source:Ensembl
Biological Process somitogenesis Source:Ensembl
Biological Process strand invasion Source:UniProtKB1 Publication

Cellular Location

Nucleus
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome

Involvement in disease

Fanconi anemia, complementation group U (FANCU):
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Spermatogenic failure 50 (SPGF50):
An autosomal recessive infertility disorder characterized by azoospermia due to meiotic arrest at the zygotene stage of prophase I.
Premature ovarian failure 17 (POF17):
A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF17 transmission pattern is consistent with autosomal recessive inheritance.