Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene Symbol ERCC2
Synonyms COFS2 | EM9 | TFIIH | TTD | TTD1 | XPD
Gene Description ERCC2, ERCC excision repair 2 TFIIH core complex helicase subunit, is an ATP-dependent 5’-3’ DNA helicase that plays a role in nucleotide excision repair, RNA transcription, and chromosome segregation (PMID: 20797633). ERCC2 variants have been associated with susceptibility to gastric cancer (PMID: 24338713) and lung cancer (PMID: 20627704) and somatic Ercc2 loss of function mutations may confer sensitivity to cisplatin (PMID: 29980530).
Additional content available in CKB BOOST