LongevityMap Gene

Gene details

HGNC symbol
POLE 
Aliases
FILS; POLE1; CRCS12 
Common name
DNA polymerase epsilon, catalytic subunit 
Description
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
OMIM
174762
Ensembl
ENSG00000177084
UniProt/Swiss-Prot
DPOE1_HUMAN
Entrez Gene
5426
UniGene
524871
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
CELE_F33H2.5
Danio rerio
pole
Drosophila melanogaster
DNApol-epsilon
Mus musculus
Pole
Rattus norvegicus
Pole
Saccharomyces cerevisiae
POL2
Schizosaccharomyces pombe
pol2

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Indentifier
rs5744897
Reference