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Gene : DDB2 Homo sapiens

Name  ? damage specific DNA binding protein 2 Cytological Location  11p11.2
Brief Description  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]
  • synonyms:
  • UV-DDB2,
  • HGNC:2718,
  • damage-specific DNA binding protein 2 (48kD),
  • XPE,
  • DDBB,
  • UV-DDB2,
  • DDB p48 subunit,
  • UV-damaged DNA-binding protein 2,
  • FLJ34321,
  • DDBB,
  • XPE,
  • NM_000107,
  • OTTHUMG00000187453,
  • uc001neb.3,
  • xeroderma pigmentosum group E protein,
  • DDB2
  • identifiers:
  • 1643,
  • ENSG00000134574,
  • DDB2

Genome feature

Region: gene ? Length: 24250  
Location: 11:47214969-47239218 Cyto location: 11p11.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Gene Ontology

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Other

3740 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results