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)[1] Band 19q13.32 Start 45,349,837 bp[1] End 45,370,918 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 9.62 cM Start 19,115,935 bp[2] End 19,129,619 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 human 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 Species Human Mouse Entrez 2068 13871 Ensembl ENSG00000104884 ENSMUSG00000030400 UniProt P18074 O08811 RefSeq (mRNA) NM_000400 NM_001130867 NM_007949 NM_001363981 RefSeq (protein) NP_000391 NP_001124339 NP_031975 NP_001350910 Location (UCSC) Chr 19: 45.35 – 45.37 Mb Chr 7: 19.12 – 19.13 Mb PubMed search [3] [4]
Wikidata
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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.^[5] 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.^[6]

XPD is essential for the viability of cells. Deletion of XPD in mice is lethal for developing embryos.^[7]

XPD helicase is also employed in p53-mediated apoptotic cell death.^[8]