ERCC2 gene

Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)
Identifiers
Symbol(s)	ERCC2; EM9; MGC102762; MGC126218; MGC126219; TTD; XPD
External IDs	OMIM: 126340 MGI: 95413 Homologene: 344
Gene Ontology Molecular Function: • nucleotide binding • magnesium ion binding • DNA binding • ATP-dependent DNA helicase activity • protein binding • ATP binding • hydrolase activity • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides • 5' to 3' DNA helicase activity Cellular Component: • nucleus • holo TFIIH complex Biological Process: • nucleobase, nucleoside, nucleotide and nucleic acid metabolic process • transcription-coupled nucleotide-excision repair • nucleotide-excision repair • transcription • regulation of transcription, DNA-dependent • transcription from RNA polymerase II promoter • induction of apoptosis • response to oxidative stress • aging • sensory perception of sound • post-embryonic development
RNA expression pattern
Additional recommended knowledge Daily Sensitivity Test What is the Correct Way to Check Repeatability in Balances? How to quickly check pipettes? More reference expression data
Orthologs
	Human	Mouse
Entrez	2068	13871
Ensembl	ENSG00000104884	ENSMUSG00000030400
Uniprot	P18074	Q3UKK7
Refseq	NM_000400 (mRNA) NP_000391 (protein)	NM_007949 (mRNA) NP_031975 (protein)
Location	Chr 19: 50.55 - 50.57 Mb	Chr 7: 18.54 - 18.55 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, trichothiodystrophy, and Cockayne syndrome.^[1]

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity.^[2] 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.

See also

• Excision repair cross-complementing

References

Further reading