Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ERCC2 |
| Gene Name: | ERCC2 |
| Protein Full Name: | TFIIH basal transcription factor complex helicase |
| Alias: | Basic transcription factor 2 80 kDa subunit;CXPD;DNA excision repair protein ERCC-2;DNA repair protein complementing XP-D cells;TFIIH basal transcription factor complex 80 kDa subunit;Xeroderma pigmentosum group D-complementing protein |
| Mass (Da): | 86909 |
| Number AA: | 760 |
| UniProt ID: | P18074 |
| Locus ID: | 2068 |
| COSMIC ID: | ERCC2 |
| Gene location on chromosome: | 19q13.2; 19q13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20566 |
| Percent of cancer specimens with mutations: | 0.04 |
| Mutations observed as inherited: | Xeroderma pigmentosum (XP) |
| Normal role description: | ERCC2 is a nucleotide excision repair protein with ATP-dependent 5' to 3' helicase activity. ERCC2 along with XPB, p62, p52, p44, p34 and TTDA comprise the transcription factor II H (TFIIH) RNA polymerase II preinitiation complex. ERCC2 is involved in unwinding DNA to create the transcription bubble during transcription initiation. During nucleotide excision repair ERCC2 unwinds DNA surrounding the damaged DNA region. ERCC2 is a required component for nucleotide excision repair and dysfunction of ERCC2 results results in several autosomal recessive diseases including, xeroderma pigmentosoum (XP), trichothiodystrophy and Cockayne syndrome. XP patients suffer from increased sensitivity to ultraviolet light damage and predisposition to develop skin cancers including basal cell carcinoma at an early age. Various mis-sense mutations in ERCC2 have been identified in XP patients. |
| Commentary on involvement of protein in cancer: | Less than 3% mutations in lung and ovary. |