QuickView for ERCC2;jsessionid=331510596288DE07F0CBCA8037DDD95D (gene)

Gene Symbol:

ERCC2 Homo sapiens

Full name:

ERCC excision repair 2, TFIIH core complex helicase subunit

Synonyms:

COFS2, EM9, TFIIH, TTD, TTD1, XPD, TFIIH basal transcription factor complex helicase XPD subunit, BTF2 p80, CXPD, DNA excision repair protein ERCC-2, DNA repair protein complementing XP-D cells, TFIIH 80 kDa subunit, TFIIH basal transcription factor complex 80 kDa subunit, TFIIH basal transcription factor complex helicase XPB subunit, TFIIH basal transcription factor complex helicase subunit, TFIIH p80, basic transcription factor 2 80 kDa subunit, excision repair cross-complementation group 2, excision repair cross-complementing rodent repair deficiency, complementation group 2, xeroderma pigmentosum complementary group D, xeroderma pigmentosum group D-complementing protein

Genomic Location:

Chr 19: 50546686-50565669

Description:

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...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Bos taurus ,  Schizosaccharomyces pombe ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

OLF1_01

Cytogenetic Map:

19q13.32

search → result