ERCC2

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Description

ERCC excision repair 2, TFIIH core complex helicase subunit

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

19:q13.32 (45349837 - 45370918)

Ensembl ID

ENSG00000104884  (ver. 103.38)

Orthologs

Mouse Ercc2: ENSMUSG00000030400

UniProt

P18074

neXtProt

NX_P18074

Human splice variants
Mouse splice variants