Homo sapiens Gene: DDB2 | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 11:47214465-47239240 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | p11.2 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Dual incision reaction in GG-NER pathway
Formation of incision complex in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
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KEGG |
Ubiquitin mediated proteolysis pathway
p53 signaling pathway pathway
Nucleotide excision repair pathway
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INOH | |||||||||||||||||||||||
PID NCI |
Direct p53 effectors
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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 | ||||||||||||||||||||||