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: | NOTCH2 |
| Gene Name: | NOTCH2 |
| Protein Full Name: | Neurogenic locus notch homolog protein 2 |
| Alias: | Motch B; NOTC2; Notch 2 extracellular truncation; Notch2; NTC2 |
| Mass (Da): | 265405 |
| Number AA: | 2471 |
| UniProt ID: | Q04721 |
| Locus ID: | 4853 |
| COSMIC ID: | NOTCH2 |
| Gene location on chromosome: | 1p12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 22044 |
| Percent of cancer specimens with mutations: | 2.72 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and 3 deletions across entire protein, but no complex mutations or insertions. |
| Found in amplified chromosomal regions in human cancers: | Amplification of 1p12 in melanoma cell lines. Amplification in 9 of 12 samples of squamous lung carcinoma. |
| Normal role description: | NOTCH2 is transmembrane receptor protein that plays a role in a variety of developmental processes by controlling cell fate decisions by detecting signals (e.g., its membrane bound ligands: Jagged1, Jagged2 and Delta) from physically adjacent cells. A variety of NOTCH2 mutations and amplifications have been found in numerous neoplasms, including: leukimia, melanoma, lung and breast carcinomas, as well as gastric tumors. |