XRCC2

Chr 7AR

X-ray repair cross complementing 2

Also known as: FANCU, POF17, SPGF50

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, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Fanconi anemia, complementation group UMIM #617247
AR
?Premature ovarian failure 17MIM #619146
AR
Spermatogenic failure 50MIM #619145
AR

Clinical highlights

Gene-disease validity (ClinGen)
Fanconi anemia complementation group U · ARLimitednot for standalone diagnostic reporting3 gene-disease associations curated in total
3
Active trials
34
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — XRCC2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.58
OE 0.83 (0.521.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.03 (0.901.18)
152 obs / 147.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.521.37)
00.351.4
Missense OE?1.03 (0.901.18)
00.61.4
Synonymous OE?0.81
01.21.6
LoF obs/exp: 11 / 13.3Missense obs/exp: 152 / 147.7Syn Z: 1.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

XRCC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.