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

Homologs in model organisms

Caenorhabditis elegans
pdr-1
Drosophila melanogaster
park
Mus musculus
Park2
Rattus norvegicus
Park2

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as park

Studies (2)

Significant/Non-significant: 1/1

Study 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
rs3019435
Reference

    Study 2

    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
    rs11585386
    Reference