ERCC2

ERCC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5IY9, 5IVW, 5IY7, 5IY8, 5IY6
Identifiers
Aliases	ERCC2, excision repair cross-complementation group 2, COFS2, EM9, TFIIH, TTD, XPD, TTD1, ERCC excision repair 2, TFIIH core complex helicase subunit
External IDs	OMIM: 126340 MGI: 95413 HomoloGene: 344 GeneCards: ERCC2
Gene ontology Molecular function • DNA binding • 4 iron, 4 sulfur cluster binding • protein kinase activity • DNA-dependent ATPase activity • nucleotide binding • helicase activity • protein N-terminus binding • iron-sulfur cluster binding • ATP-dependent DNA helicase activity • ATP-dependent helicase activity • metal ion binding • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides • protein C-terminus binding • protein binding • nucleic acid binding • RNA polymerase II carboxy-terminal domain kinase activity • 5'-3' DNA helicase activity • hydrolase activity • ATP binding Cellular component • cytoplasm • cyclin-dependent protein kinase activating kinase holoenzyme complex • spindle • holo TFIIH complex • core TFIIH complex • cytoskeleton • nucleus • MMXD complex • nucleoplasm • transcription factor TFIID complex • cytosol Biological process • termination of RNA polymerase I transcription • regulation of mitotic cell cycle phase transition • bone mineralization • hair cycle process • response to hypoxia • regulation of transcription, DNA-templated • embryonic cleavage • hair follicle maturation • multicellular organism growth • chromosome segregation • transcription initiation from RNA polymerase I promoter • transcription elongation from RNA polymerase II promoter • hair cell differentiation • aging • extracellular matrix organization • in utero embryonic development • 7-methylguanosine mRNA capping • transcription from RNA polymerase II promoter • post-embryonic development • response to oxidative stress • transcription, DNA-templated • cellular response to DNA damage stimulus • positive regulation of transcription, DNA-templated • global genome nucleotide-excision repair • transcription elongation from RNA polymerase I promoter • hematopoietic stem cell differentiation • spinal cord development • UV protection • positive regulation of DNA binding • central nervous system myelin formation • transcription-coupled nucleotide-excision repair • transcription initiation from RNA polymerase II promoter • cell proliferation • nucleotide-excision repair, DNA incision • nucleobase-containing compound metabolic process • response to UV • positive regulation of transcription from RNA polymerase II promoter • skin development • erythrocyte maturation • apoptotic process • nucleotide-excision repair • nucleotide-excision repair, preincision complex stabilization • nucleotide-excision repair, DNA duplex unwinding • DNA repair • viral process • protein phosphorylation • nucleotide-excision repair, preincision complex assembly • nucleotide-excision repair, DNA incision, 5'-to lesion • nucleotide-excision repair, DNA incision, 3'-to lesion • embryonic organ development • DNA duplex unwinding 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_001130867	NM_007949
RefSeq (protein)	NP_000391 NP_001124339	NP_031975.2 NP_031975
Location (UCSC)	Chr 19: 45.35 – 45.37 Mb	Chr 7: 19.38 – 19.4 Mb
PubMed search

5IY9, 5IVW, 5IY7, 5IY8, 5IY6

2068

13871

ENSG00000104884

ENSMUSG00000030400

P18074

O08811

NM_000400
NM_001130867

NM_007949

NP_000391
NP_001124339

NP_031975.2
NP_031975

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.

...
Wikipedia