LongevityMap Gene

Gene details

HGNC symbol: PRKN
Aliases: PDJ; AR-JP; LPRS2; PARK2
Common name: parkin RBR E3 ubiquitin protein ligase
Description: The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
Cytogenetic Location: 6q26
UCSC Genome Browser: View 6q26 on the UCSC genome browser
OMIM: 602544
Ensembl: ENSG00000185345
UniProt/Swiss-Prot: PRKN2_HUMAN
Entrez Gene: 5071
UniGene: 132954
1000 Genomes: 1000 Genomes

GenAge model organism genes

CellAge

Significant/Non-significant: 1/1

Longevity Association: Significant
Population: American (Caucasian)
Study Design: Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions: 281 SNPs were found to discriminate between cases and controls
Indentifier

Longevity Association: Non-significant
Population: American (Amish)
Study Design: 630,309 SNPs were examined by genome-wide linkage and association study among 74 successfully aged (35% female, mean age 81.82 years) and 189 'normally aged' (67% female mean age 83.74 years) Amish adults over age 80
Conclusions: Several SNPs had strong, but not genome-wide, significant evidence for association (p < 1.00 × 10−5). Several of these markers are on chromosome 6 within the FRA6E region and associated with SA (minimum p = 2.89 × 10−6). These findings suggest potentially novel genes in the 6q25-q27 region linked and associated with successful aging in the Amish.
Indentifier