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: | NOTCH3 |
| Gene Name: | NOTCH3 |
| Protein Full Name: | Neurogenic locus notch homologue protein 3 |
| Alias: | Cadasil; Casil; Notc3; Notch 3; Notch homologue 3; Notch homologue 3 (drosophila); Notch3 |
| Mass (Da): | 243659 |
| Number AA: | 2321 |
| UniProt ID: | Q9UM47 |
| Locus ID: | 4854 |
| COSMIC ID: | NOTCH3 |
| Gene location on chromosome: | 19p13.12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20657 |
| Percent of cancer specimens with mutations: | 1.78 |
| Deregulated in translocations: | t(15;19)(q11;p13) |
| Normal role description: | Notch3 is a membrane receptor that mediates cell-cell interactions to facilitate cell differentiation, growth and cell death. Disease-associated mutations are distributed throughout the epidermal growth factor-like repeats (EGFRs) that compose the extracellular domain. Tranlocations result in overexpression of Notch3 which suggests its role as a oncogene potentially through similar pathways as EGFR. |