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Gene Ontology Classifications
Symbol
Name
ID
Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
MGI:95413

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GO curators for mouse genes have assigned the following annotations to the gene product of Ercc2. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of December 31, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Andressoo JO et al. (2006) Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol, 4:e322. (PubMed:17020410)
  2. Compe E et al. (2007) Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci, 10:1414-22. (PubMed:17952069)
  3. de Boer J et al. (2002) Premature aging in mice deficient in DNA repair and transcription. Science, 296:1276-9. (PubMed:11950998)
  4. de Boer J et al. (1998) Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res, 58:89-94. (PubMed:9426063)
  5. de Boer J et al. (1998) A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell, 1:981-90. (PubMed:9651581)
  6. Park JY et al. (2008) Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice. PLoS ONE, 3:e2346. (PubMed:18545656)
  7. Rossi DJ et al. (2007) Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature, 447:725-9. (PubMed:17554309)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory