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: | EGFR |
| Gene Name: | EGFR |
| Protein Full Name: | Epidermal growth factor receptor |
| Alias: | EC 2.7.10.1; EGFR; Epidermal growth factor receptor; ErbB-1; Receptor tyrosine-protein kinase ErbB-1; V-erb-b oncogene homologue |
| Mass (Da): | 134277 |
| Number AA: | 1210 |
| UniProt ID: | P00533 |
| Locus ID: | 1956 |
| COSMIC ID: | EGFR |
| Gene location on chromosome: | 7q12-13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 128994 |
| Percent of cancer specimens with mutations: | 18.63 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Two main regions, one (AA 858) with point mutations, the other (AA 670-690) with complex mutations, insertions and deletions. |
| Commonly recorded point mutations: | L858R (9181); T790M (1093); G719A (166); G719S (115) |
| Found in amplified chromosomal regions in human cancers: | Glioblastomas (50%); squamous cell carcinomas (10-20%) |
| Deregulated by viral insertion: | Avian leukosis virus - Chicken |
| Transduced into viral genome: | Avian erythroblastosis ES4 virus - Chicken |
| Normal role description: | EGFR is a receptor-tyrosine kinase that is activated upon binding epidermal growth factor (EGF) and transforming growth factor-alpha (TGFalpha). Binding of EGF ellicits a pro-growth and anti-apoptotic response through the Ras pathway. Missense mutations and deletions are common in a variety of cancers. |
| Commentary on involvement of protein in cancer: | L858 - L858R Found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity. L858 is located in the kinase catalytic domain in the activation loop between subdomains VII and VIII. |