LongevityMap Gene

Gene details

HGNC symbol
ERCC5 
Aliases
XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201 
Common name
ERCC excision repair 5, endonuclease 
Description
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
OMIM
133530
Ensembl
ENSG00000134899
UniProt/Swiss-Prot
ERCC5_HUMAN
Entrez Gene
2073
UniGene
258429
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
xpg-1
Danio rerio
ercc5
Drosophila melanogaster
mus201
Mus musculus
Ercc5
Rattus norvegicus
Ercc5
Saccharomyces cerevisiae
RAD2
Schizosaccharomyces pombe
rad13

In other databases

GenAge human genes
  • This gene is present as ERCC5

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs2296147
Reference

    Study 2

    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
    rs2227869
    Reference