Gene: DDB2

Alternate names for this Gene: DDBB|UV-DDB2|XPE

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: damage specific DNA binding protein 2

Type of Gene: protein-coding

rs4647728 in DDB2 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs7395581 in DDB2 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs3758667 in DDB2 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs3758667 in DDB2 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs121434640 in DDB2 gene and XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E PMID 8798680 1996 Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.