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
- pole-1
- Danio rerio
- pole
- Drosophila melanogaster
- DNApol-epsilon255
- Mus musculus
- Pole
- Rattus norvegicus
- Pole
- Saccharomyces cerevisiae
- POL2
- Schizosaccharomyces pombe
- pol2
In other databases
- CellAge gene expression
- This gene is present as POLE
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