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