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: | CDKN2A |
| Gene Name: | CDKN2A |
| Protein Full Name: | Cyclin-dependent kinase inhibitor 2A, isoform 4 |
| Alias: | p14ARF;p19ARF |
| Mass (Da): | 18006 |
| Number AA: | 173 |
| UniProt ID: | Q8N726; A5X2G7; D1LYX3; P42771 |
| Locus ID: | 1029 |
| COSMIC ID: | CDKN2A |
| Gene location on chromosome: | 9p21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 50973 |
| Percent of cancer specimens with mutations: | 9.22 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with a few hot spots. Many Inserts and deletions as well as point mutations. |
| Commonly recorded point mutations: | 0? (1397, Whole gene deletion); R80* (124); R58* (92); |
| Mutations observed as inherited: | Familial melanoma. Non-hereditary: melanoma, pancreatic cancer, others. |
| Gene undergoes hypermethylation: | Diverse tumours including colon and lymphoma. |
| Normal role description: | CDKN2A produces 2 proteins: p16INK4 and p14ARF. p16INK4 inhibits cell-cycle kinases CDK4 and CDK6 |