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
- xpb-1
- 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