Homo sapiens Gene: DDB2
Summary
InnateDB Gene IDBG-42769.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DDB2
Gene Name damage-specific DNA binding protein 2, 48kDa
Synonyms DDBB; UV-DDB2;
Species Homo sapiens
Ensembl Gene ENSG00000134574
Encoded Proteins
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
damage-specific DNA binding protein 2, 48kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:47214465-47239240
Strand Forward strand
Band p11.2
Transcripts
ENST00000256996 ENSP00000256996
ENST00000378603 ENSP00000367866
ENST00000378601 ENSP00000367864
ENST00000378600 ENSP00000367863
ENST00000622878 ENSP00000479196
ENST00000614825 ENSP00000483718
ENST00000622090 ENSP00000479994
ENST00000615695
ENST00000610805 ENSP00000478063
ENST00000612309
ENST00000617022
ENST00000616278 ENSP00000478411
ENST00000617847 ENSP00000482080
ENST00000614394
ENST00000620515
ENST00000614884
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 74 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 74 [view]
Protein-Protein 69 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003824 catalytic activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
Biological Process
GO:0000209 protein polyubiquitination
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0006290 pyrimidine dimer repair
GO:0009411 response to UV
GO:0035518 histone H2A monoubiquitination
GO:0051865 protein autoubiquitination
GO:0070914 UV-damage excision repair
Cellular Component
GO:0005654 nucleoplasm
GO:0031465 Cul4B-RING E3 ubiquitin ligase complex
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Formation of incision complex in GG-NER pathway
Dual incision reaction in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Nucleotide excision repair pathway
p53 signaling pathway pathway
Ubiquitin mediated proteolysis pathway
INOH
PID BIOCARTA
PID NCI
Direct p53 effectors
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 1643
UniGene
RefSeq NM_000107 NM_001300734 XM_005252808 XM_006718161
HUGO HGNC:2718
OMIM 600811
CCDS CCDS73284 CCDS7927
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas 1643