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; OMA:ERCC2 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	45,370,918 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	19,129,619 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; right adrenal gland; ; left adrenal gland; ; right adrenal cortex; ; ganglionic eminence; ; left adrenal cortex; ; ventricular zone; ; right testis; ; left testis; ; prefrontal cortex;
	Top expressed in
	spermatocyte; ; Ileal epithelium; ; neural layer of retina; ; ventricular zone; ; epiblast; ; yolk sac; ; lip; ; muscle of thigh; ; superior frontal gyrus; ; spermatid;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; 4 iron, 4 sulfur cluster binding; protein kinase activity; ATP-dependent activity, acting on DNA; nucleotide binding; helicase activity; protein N-terminus binding; iron-sulfur cluster binding; DNA 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 CTD heptapeptide repeat kinase activity; 5'-3' DNA helicase activity; hydrolase activity; ATP binding; damaged DNA binding; protein-macromolecule adaptor activity;
Cellular component	cytoplasm; cyclin-dependent protein kinase activating kinase holoenzyme complex; spindle; transcription factor TFIIH holo complex; transcription factor TFIIH core complex; cytoskeleton; nucleus; MMXD complex; nucleoplasm; transcription factor TFIID complex; cytosol; CAK-ERCC2 complex;
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; ageing; extracellular matrix organization; in utero embryonic development; 7-methylguanosine mRNA capping; transcription by RNA polymerase II; 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; 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 population proliferation; nucleotide-excision repair, DNA incision; nucleobase-containing compound metabolic process; response to UV; positive regulation of transcription by RNA polymerase II; skin development; erythrocyte maturation; apoptotic process; nucleotide-excision repair; nucleotide-excision repair, preincision complex stabilization; DNA repair; viral process; protein phosphorylation; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair, DNA incision, 5'-to lesion; embryonic organ development; DNA duplex unwinding; regulation of mitotic recombination; nucleotide-excision repair, DNA duplex unwinding; positive regulation of mitotic recombination; nucleotide-excision repair, DNA incision, 3'-to lesion; transcription elongation from RNA polymerase I promoter;
	Sources:Amigo / QuickGO
Orthologs
	2068
	13871
	ENSG00000104884
	ENSMUSG00000030400
	P18074
	O08811
	NM_000400; NM_001130867
	NM_007949; NM_001363981
	NP_000391; NP_001124339
	NP_031975; NP_001350910
	Wikidata
View/Edit Human	View/Edit Mouse

TFIIH subunit XPD is a protein that in humans is encoded by the ERCC2 (ERCC excision repair 2) gene. It is a component of the general transcription and DNA repair factor IIH (TFIIH) core complex involved in transcription-coupled nucleotide excision repair.

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

The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein contains 760 amino acids and is a 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.

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

XPD helicase is also employed in p53-mediated apoptotic cell death.