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
- Caenorhabditis elegans
- gen-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