LongevityMap variant
Entry Details
- 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.
- Identifier
- rs238415
- In Other Studies (IDs)
- 1908
- Cytogenetic Location
- 19q13.32
- UCSC Genome Browser
- View 19q13.32 on the UCSC genome browser
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]
- Other longevity studies of this gene
- 17
- OMIM
- 126340
- Ensembl
- ENSG00000104884
- UniProt/Swiss-Prot
- ERCC2_HUMAN
- Entrez Gene
- 2068
- UniGene
- 487294
- HapMap
- View on HapMap
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