LongevityMap Gene

Gene details

HGNC symbol
ERCC2 
Aliases
EM9; TTD; XPD; TTD1; COFS2; TFIIH 
Common name
ERCC excision repair 2, TFIIH core complex helicase subunit 
Description
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
OMIM
126340
Ensembl
ENSG00000104884
UniProt/Swiss-Prot
ERCC2_HUMAN
Entrez Gene
2068
UniGene
487294
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
CELE_Y50D7A.2
Danio rerio
ercc2
Drosophila melanogaster
Xpd
Mus musculus
Ercc2
Rattus norvegicus
Ercc2
Saccharomyces cerevisiae
RAD3
Schizosaccharomyces pombe
rad15

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc2
GenAge human genes
  • This gene is present as ERCC2

Studies (3)

Significant/Non-significant: 1/2

Study 1

Longevity Association
Significant
Population
Polish
Study Design
Analysis was performed in 149 centenarians (mean age 101.1 years old) and in 413 young subjects (mean age 27.1 years old).
Conclusions
The distribution of the Lys751Gln genotypes differed significantly between these groups (P = 0.017). In centenarians, the homozygous genotypes AA and CC were found less frequently than in young controls (29 vs. 36%, OR = 0.71, and 14 vs. 20%, OR = 0.652, respectively). The Arg156Arg and Asp312Asn were not significantly associated with extreme longevity.
Indentifier
Lys751Gln
Reference

    Study 2

    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
    rs13181
    Reference

      Study 3

      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
      rs3916874
      Reference