X-Ray Repair Cross Complementing 2

Alternative Names

  • XRCC2
  • X-Ray Repair, Complementing Defective, in Chinese Hamster, 2
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OMIM Number

600375

NCBI Gene ID

7516

Uniprot ID

O43543

Length

31,366 bases

No. of Exons

3

No. of isoforms

1

Protein Name

DNA repair protein XRCC2

Molecular Mass

31956 Da

Amino Acid Count

280

Genomic Location

chr7:152,644,776-152,676,141

Gene Map Locus
7q36.1

Description

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. [From RefSeq]

Molecular Genetics

The XRCC2 gene spans approximately 31 kb in the genomic DNA with three coding exons.  Expectedly, it is a functional candidate for modifying cancer risk and survival.  Common polymorphisms within this gene, including Arg188His polymorphism, have been identified as potential susceptibility in breast, ovarian, thyroid and colorectal cancer. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005431.2:c.643C>TSaudi ArabiaNC_000007.14:g.152648842G>ALikely Pathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicFanconi Anemia, Complementation Group UNG_027988.2:g.32324C>T; NM_005431.2:c.643C>T; NP_005422.1:p.Arg215Ter14315387130063
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