LongevityMap Gene

Gene details

HGNC symbol
ERCC3 
Aliases
XPB; BTF2; TTD2; GTF2H; RAD25; TFIIH 
Common name
ERCC excision repair 3, TFIIH core complex helicase subunit 
Description
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser
OMIM
133510
Ensembl
ENSG00000163161
UniProt/Swiss-Prot
B3KRG2_HUMAN
Entrez Gene
2071
UniGene
469872
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
CELE_Y66D12A.15
Danio rerio
ercc3
Drosophila melanogaster
hay
Mus musculus
Ercc3
Rattus norvegicus
Ercc3
Saccharomyces cerevisiae
SSL2
Schizosaccharomyces pombe
ercc3

In other databases

GenAge human genes
  • This gene is present as ERCC3

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
rs4150459
Reference