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Symbol ERCC2 contributors: mct/npt/shn/pgu - updated : 03-12-2011
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 2
HGNC id 3434
corresponding disease(s) XPD , COFS2
  • to melanoma
  • to lung cancer in light smokers
  • to squamous cell carcinoma of the head and neck
  • cutaneous basal cell carcinoma
  • to acute myeloid leukemia (AML)
  • to sporadic breast carcinomas
  • may be associated with the progression of primary open-angle glaucoma in male patients of Pakistani origin (
  • Variant & Polymorphism other
  • exon 23 Lys increased in the melanoma
  • Asp 312 Asn increase the risk of lung cancer
  • SNP increasing the risk of cutaneous basal cell carcinoma
  • increased risk of AML was found in individuals heterozygous for XPD 2251A>C (rs13181), and the increased risk could be attributed to C allele
  • association of the XPD-Lys751Gln polymorphism with low histological grade, which is the most frequent pattern of sporadic breast carcinomas
  • Candidate gene
    Therapy target
  • TTD mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities (
  • TTD mice were found to exhibit many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early greying, cachexia, infertility, and reduced life-span (