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: | PTEN |
| Gene Name: | PTEN |
| Protein Full Name: | Phosphatidylinositol-3,4,5-trisphosphate 3-phospha |
| Alias: | BZS; EC 3.1.3.16; EC 3.1.3.48; EC 3.1.3.67; MHAM; MMAC1; Mutated in multiple advanced cancers 1; Phosphatase and tensin; Phosphatase and tensin homolog gene; Protein-tyrosine phosphatase PTEN; PTEN1; TEP1 |
| Mass (Da): | 47166 |
| Number AA: | 403 |
| UniProt ID: | P60484 |
| Locus ID: | 5728 |
| COSMIC ID: | PTEN |
| Gene location on chromosome: | 10q23.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 46849 |
| Percent of cancer specimens with mutations: | 6.94 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
| Commonly recorded point mutations: | R130G (116); R130Q (101); |
| Mutations observed as inherited: | Cowden syndrome, breast and gastrointestinal carcinomas. |
| Normal role description: | Phosphoinositide 3-phosphatase, protein-Tyr phosphatase. |