LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs11571461
In Other Studies (IDs)
3346
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser

Gene details

HGNC symbol
RAD52
Aliases
 
Common name
RAD52 homolog, DNA repair protein 
Description
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]
Other longevity studies of this gene
11
OMIM
600392
Ensembl
ENSG00000002016
UniProt/Swiss-Prot
B7Z2G8_HUMAN
Entrez Gene
5893
UniGene
410355
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad52
Mus musculus
Rad52
Rattus norvegicus
Rad52

In other databases

GenAge human genes
  • This gene is present as RAD52

References

Soerensen et al. (2012)

Other variants which are also part of this study