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- NCIT_C20657 IAO_0000115 "Human ERCC2 Gene (RAD3/XPD Family) encodes 760-aa 87-kDa nuclear DNA Excision Repair Protein ERCC2, an ATP-dependent 5 prime-3 prime DNA helicase and one of six integral subunits of the basal transcription factor BTF2/TFIIH complex. Recruited by transcription preinitiation or DNA damage recognition complexes, ERCC2 is involved in RNA polymerase II transcription, transcription-coupled nucleotide excision DNA repair, and cell cycle regulation. ERCC2/MAT1 anchors CAK complex to the TFIIH complex. CAK inhibits ERCC2 helicase activity; overcome by binding TFIIH subunit p44, which stimulates helicase activity. ERCC2 defects result in XPD, XPD/CS, TTD, and COFS Syndrome. (NCI)" @default.
- NCIT_C20657 NCIT_NHC0 "C20657" @default.
- NCIT_C20657 NCIT_P100 "278730" @default.
- NCIT_C20657 NCIT_P102 "NM_000400" @default.
- NCIT_C20657 NCIT_P106 "Gene or Genome" @default.
- NCIT_C20657 NCIT_P108 "ERCC2 Gene" @default.
- NCIT_C20657 NCIT_P200 "DNA Repair Gene" @default.
- NCIT_C20657 NCIT_P203 "Gene_Kind" @default.
- NCIT_C20657 NCIT_P204 "Gene_In_Chromosomal_Location|19q13.3" @default.
- NCIT_C20657 NCIT_P204 "Gene_Plays_Role_in_Process|Cell Cycle Regulation" @default.
- NCIT_C20657 NCIT_P204 "Gene_Plays_Role_in_Process|DNA Repair" @default.
- NCIT_C20657 NCIT_P204 "Gene_Plays_Role_in_Process|Transcription" @default.
- NCIT_C20657 NCIT_P211 "ATP dependent DNA helicase activity" @default.
- NCIT_C20657 NCIT_P211 "nucleotide-excision repair" @default.
- NCIT_C20657 NCIT_P211 "nucleus" @default.
- NCIT_C20657 NCIT_P310 "Retired_Concept" @default.
- NCIT_C20657 NCIT_P93 "P18074" @default.
- NCIT_C20657 NCIT_P96 "DNA Excision Repair Protein ERCC2" @default.
- NCIT_C20657 normalizedInformationContent "100" @default.
- NCIT_C20657 referenceCount "1" @default.
- NCIT_C20657 hasExactSynonym "ERCC2 Gene" @default.
- NCIT_C20657 hasExactSynonym "XP, Group D" @default.
- NCIT_C20657 hasExactSynonym "XP4" @default.
- NCIT_C20657 hasExactSynonym "XPD Gene" @default.
- NCIT_C20657 hasExactSynonym "XPD" @default.
- NCIT_C20657 hasExactSynonym "XPDC" @default.
- NCIT_C20657 type Class @default.
- NCIT_C20657 isDefinedBy ncit.owl @default.
- NCIT_C20657 label "ERCC2 Gene" @default.
- NCIT_C20657 subClassOf NCIT_C20657 @default.
- NCIT_C20657 subClassOf NCIT_C28428 @default.
- NCIT_C20657 subClassOf NCIT_C83480 @default.
- NCIT_C20657 deprecated "true" @default.