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

Danio rerio
ddb2
Mus musculus
Ddb2
Rattus norvegicus
Ddb2

In other databases

CellAge
  • This gene is present as DDB2

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