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Gene : ERCC2 Homo sapiens

Name  ? ERCC excision repair 2, TFIIH core complex helicase subunit Cytological Location  19q13.32
Brief Description  ERCC excision repair 2, TFIIH core complex helicase subunit
Description  The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
  • synonyms:
  • MGC102762,
  • TFIIH,
  • NM_000400,
  • excision repair cross-complementation group 2,
  • XPD,
  • TTD1,
  • COFS2,
  • uc002pbj.3,
  • HGNC:3434,
  • OTTHUMG00000048190,
  • ERCC2,
  • excision repair cross-complementing rodent repair deficiency, complementation group 2,
  • XPD,
  • TFIIH basal transcription factor complex helicase XPB subunit,
  • TTD,
  • MGC126219,
  • MAG,
  • EM9,
  • excision repair cross-complementing rodent repair deficiency, complementation group 2 protein,
  • MGC126218,
  • xeroderma pigmentosum complementary group D,
  • EM9
  • identifiers:
  • 2068,
  • ENSG00000104884,
  • ERCC2

Genome feature

Region: gene ? Length: 20811  
Location: 19:45349837-45370647 reverse strand Cyto location: 19q13.32


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51 Pathways

Gene --> GO terms.

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Proteins

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Disease

3 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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51 Pathways

3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results