Aliases for ERCC2 Gene
- ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit 2 3 5
- Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2 2 3
- TFIIH Basal Transcription Factor Complex Helicase XPB Subunit 2 3
- TFIIH Basal Transcription Factor Complex 80 KDa Subunit 3 4
- Xeroderma Pigmentosum Group D-Complementing Protein 3 4
- Excision Repair Cross-Complementation Group 2 2 3
- Xeroderma Pigmentosum Complementary Group D 2 3
- Basic Transcription Factor 2 80 KDa Subunit 3 4
- DNA Repair Protein Complementing XP-D Cells 3 4
- DNA Excision Repair Protein ERCC-2 3 4
- TFIIH 80 KDa Subunit 3 4
- TFIIH P80 3 4
- BTF2 P80 3 4
- CXPD 3 4
External Ids for ERCC2 Gene
Previous HGNC Symbols for ERCC2 Gene
Previous GeneCards Identifiers for ERCC2 Gene
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]
ERCC2 functions as a DNA repair gene involved in separating the double helix via 5’-3’ helicase activity. It forms a part of the transcription factor II Human (TFIIH) complex and is ATP-dependent. The TFIIH complex is known to be involved in the nucleotide excision repair pathway (NER) which can repair DNA damage caused by chemotherapeutic treatment and basal transcription. ERCC2 variants have been observed in a variety of cancers. A number of studies have suggested ERCC2 variants can act as biomarkers to predict response to neoadjuvant treatment, and cancer prognosis. Additionally the Lys751Gln polymorphism has been observed to increase risk in a number of cancer types; however, results have been conflicting.
GeneCards Summary for ERCC2 Gene
ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) is a Protein Coding gene. Diseases associated with ERCC2 include Trichothiodystrophy 1, Photosensitive and Xeroderma Pigmentosum, Group D. Among its related pathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. GO annotations related to this gene include nucleic acid binding and protein C-terminus binding.
UniProtKB/Swiss-Prot for ERCC2 Gene
ATP-dependent 5-3 DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.