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MGP000803

Record overview

MGPD IDMGP000803
Gene ID1643
SpeciesHomo sapiens (Human)
Gene Namedamage-specific DNA binding protein 2, 48kDa
Gene Symbol DDB2
SynonymsDDBB; UV-DDB2;
Alternate namesDNA damage-binding protein 2; UV-DDB 2; DDB p48 subunit; UV-damaged DNA-binding protein 2; damage-specific DNA-binding protein 2; xeroderma pigmentosum group E protein;
Chromosome11
Map Location11p12-p11
SummaryThis 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]
OrthologsView orthologs and multiple alignments for DDB2

Proteins

DNA damage-binding protein 2 isoform D1
Refseq ID:NP_001287663
Protein GI:663429592
UniProt ID:Q92466
mRNA ID:NM_001300734
Length:238
RefSeq Status:
MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPSRRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDS
YRILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDP
ESSGISSLNEFNPMGDTLASAMGYHILIWSQEEARTRK
 
DNA damage-binding protein 2 isoform WT
Refseq ID:NP_000098
Protein GI:4557515
UniProt ID:Q92466
mRNA ID:NM_000107
Length:427
RefSeq Status:
MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPSRRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDS
YRILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGIGAGGSITGLKFNPLNTNQFYASSMEGTTRLQDFKGNILRVFASSDTI
NIWFCSLDVSASSRMVVTGDNVGNVILLNMDGKELWNLRMHKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVRGKASFLYSLPHRHPVNAACFSPDG
ARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHFQHLTPIKAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEF
NPMGDTLASAMGYHILIWSQEEARTRK
 
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