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Description for Protein ERCC2

excision repair cross-complementing rodent repair deficiency, complementation group 2
14 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • HELIC: helicase superfamily c-terminal domain
  • DEXDc: DEAD-like helicases superfamily
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.1.-
    KEGG - Orthology:
    K10844
    KEGG - Pathway(s):
    hsa03420
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Excision repair, complementing defective, in chinese hamster, 2; Xeroderma pigmentosum group D complementing protein; Malignancy associated protein; EM9; TFIIH basal transcription factor complex helicase subunit; DNA repair protein complementing XPD cells; CXPD; DNA excision repair protein ERCC-2; XPDC
    Approved Symbol:
    ERCC2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cerebrooculofacioskeletal syndrome(Pd);
  • Cerebrooculofacioskeletal syndrome 2(Pd);
  • Trichothiodystrophy(Pd);
  • Xeroderma pigmentosum, complementation group D(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00530 Entrez Gene ID: 2068 OMIM ID: 126340 Swissprot Accession: P18074; Q7KZU6;