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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
Corresponding disease
COFS2 cerebro-oculo-facio-skeletal syndrome 2
XPD xeroderma pigmentosum, complementation group D
Location 19q13.32      Physical location : 45.854.648 - 45.873.845
Synonym name
  • DNA excision repair protein ERCC-2
  • DNA repair protein complementing XP-D cells
  • excision repair cross-complementing rodent repair defect in CHO cells
  • malignancy associated gene
  • TFIIH basal transcription factor complex p80 subunit
  • TFIIH basal transcription factor complex helicase subunit
  • TFIIH basal transcription factor complex helicase XPD subunit
  • TFIIH basal transcription factor complex 80 kDa subunit
  • TFIIH 80 kDa subunit
  • TFIIH p80
  • basic transcription factor 2 80 kDa subunit
  • xeroderma pigmentosum group D-complementing protein
  • xeroderma pigmentosum complementary group D
  • excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
    • Synonym symbol(s) EM9, MAG, MGC102762, MGC126218, MGC126219, COFS2, CXPD, XPD, BTF2-p80, BTF2 p80
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text including overlapping antisense sequence
    STRUCTURE 19.20 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - XRCC1 - D19S728 - KLC3 - ERCC2 - CCG - ERCC1 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 splicing 2568 - 760 - 1990 2184031
    12 splicing 1753 60 405 - 1990 2184031
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Endocrineneuroendocrinepituitary  highly
     pancreas   highly
    Nervousbrain   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    Lymphoid/Immunenatural killer
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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 (