LongevityMap Gene
Gene details
- HGNC symbol
- DDB2
- Aliases
- XPE; DDBB; UV-DDB2
- Common name
- damage specific DNA binding protein 2
- Description
- This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Cytogenetic Location
- 11p11.2
- UCSC Genome Browser
- View 11p11.2 on the UCSC genome browser
- OMIM
- 600811
- Ensembl
- ENSG00000134574
- UniProt/Swiss-Prot
- DDB2_HUMAN
- Entrez Gene
- 1643
- UniGene
- 700338
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
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
- rs1685404
- Reference