RAD52

Chr 12

RAD52 DNA repair protein

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…
0
Active trials
56
Pubs (1 yr)
P/LP submissions
P/LP missense
1.11
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.14
OE 0.76 (0.531.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.90 (0.811.01)
222 obs / 246.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.531.11)
00.351.4
Missense OE?0.90 (0.811.01)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 19 / 25.1Missense obs/exp: 222 / 246.4Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAD52 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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