ERCC2

Excision repair cross-complementation group 2
Identifiers
Symbols	ERCC2 ; COFS2; EM9; TFIIH; TTD; TTD1; XPD
External IDs	OMIM: 126340 MGI: 95413 HomoloGene: 344 GeneCards: ERCC2 Gene
EC number	3.6.4.12
Gene ontology Molecular function • DNA binding • ATP-dependent DNA helicase activity • protein kinase activity • protein binding • ATP binding • protein C-terminus binding • DNA-dependent ATPase activity • RNA polymerase II carboxy-terminal domain kinase activity • 5'-3' DNA helicase activity • metal ion binding • protein N-terminus binding • 4 iron, 4 sulfur cluster binding Cellular component • core TFIIH complex • nucleus • nucleoplasm • holo TFIIH complex • cytoplasm • spindle • cyclin-dependent protein kinase activating kinase holoenzyme complex • MMXD complex Biological process • nucleotide-excision repair, DNA damage removal • response to hypoxia • in utero embryonic development • DNA repair • transcription-coupled nucleotide-excision repair • nucleotide-excision repair • transcription from RNA polymerase I promoter • transcription initiation from RNA polymerase I promoter • transcription elongation from RNA polymerase I promoter • termination of RNA polymerase I transcription • transcription from RNA polymerase II promoter • transcription initiation from RNA polymerase II promoter • transcription elongation from RNA polymerase II promoter • 7-methylguanosine mRNA capping • protein phosphorylation • apoptotic process • response to oxidative stress • chromosome segregation • aging • cell proliferation • UV protection • post-embryonic development • gene expression • viral process • spinal cord development • extracellular matrix organization • bone mineralization • central nervous system myelin formation • DNA duplex unwinding • nucleotide-excision repair, DNA incision • multicellular organism growth • hair cell differentiation • embryonic cleavage • regulation of gene expression, epigenetic • erythrocyte maturation • positive regulation of DNA binding • small molecule metabolic process • negative regulation of gene expression, epigenetic • positive regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • hair follicle maturation • positive regulation of viral transcription • hematopoietic stem cell differentiation • regulation of mitotic cell cycle phase transition Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2068	13871
Ensembl	ENSG00000104884	ENSMUSG00000030400
UniProt	P18074	O08811
RefSeq (mRNA)	NM_000400	NM_007949
RefSeq (protein)	NP_000391	NP_031975
Location (UCSC)	Chr 19: 45.35 – 45.37 Mb	Chr 7: 19.38 – 19.4 Mb
PubMed search	[1]	[2]

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.

The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, photosensitive trichothiodystrophy, and Cockayne syndrome.

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity. It belongs to the RAD3/XPD subfamily of helicases.

XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.

Interactions

ERCC2 has been shown to interact with:

• ERCC5,
• GTF2H1,
• GTF2H2, and
• XPB.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.

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|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit]]

File:FluoropyrimidineActivity_WP1601.png

Fluorouracil (5-FU) Activity edit

See also

• Excision repair cross-complementing

External links

• GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum
• ERCC2 Protein at the US National Library of Medicine Medical Subject Headings (MeSH)