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FLASH GENE
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
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an ATP binding site motif A (P loop)
  • a catalytic domain
  • an essential FeS cluster-binding domain
    • HOMOLOGY
    interspecies ortholog to Ercc2, Mus musculus
    ortholog to Ercc2, Rattus norvegicus
    ortholog to ercc2, Danio rerio
    Homologene
    FAMILY
  • helicase family
  • RAD3/XPD subfamily
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • excision repair ATP dependent DNA helicase playing a role as a subunit of the basal transcription factor BT2/ERCC3
  • involved in transcription-coupled repair (TCR) of oxidative lesions
  • RNA polymerase 2 transcription factor
  • plays a critical role in nucleotide excision repair (NER) and basal transcription
  • with ERCC3, are central genome caretakers involved in nucleotide excision repair (NER), although their respective role within this DNA repair pathway remains difficult to delineate
  • ERCC3 and ERCC2 are part of the TFIIH complex which mediates basal transcription and DNA nucleotide excision repair
    • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription, initiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    nucleotide-excision repair
    a component
  • component of transcription factor IIH (TFIIH), which functions in transcription initiation and Nucleotide Excision Repair (NER)
  • MMXD (MMS19-FAM96B-ERCC2) complex, is required for proper chromosome segregation, an abnormality of which could contribute to the pathogenesis in some cases of XP-D and XP-D/CS
    • INTERACTION
    DNA binding
    RNA
    small molecule metal binding, nucleotide,
  • Mg2+
  • ATP binding
    • protein
  • p44 (
  • Cdk-activating kinase (CAK) complex (
  • Rad51 (
  • RAD52 (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) XPD , COFS2
    Susceptibility
  • 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
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 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 (