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: | MYH9 |
| Gene Name: | MYH9 |
| Protein Full Name: | Myosin-9 |
| Alias: | Cellular myosin heavy chain, type A; DFNA17; EPSTS; FTNS; MHA; Myosin, heavy chain 9, non-muscle; Myosin, heavy polypeptide 9, non-muscle; NMHC-II-A; NMMHCA; NMMHC-A; Nonmuscle myosin heavy chain II-A; Nonmuscle myosin heavy chain-A |
| Mass (Da): | 226532 |
| Number AA: | 1960 |
| UniProt ID: | P35579 |
| Locus ID: | 4627 |
| COSMIC ID: | MYH9 |
| Gene location on chromosome: | 22q12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20049 |
| Percent of cancer specimens with mutations: | 1.7 |
| Deregulated in translocations: | Anaplasic large cell lymphoma (ALCL) with t(2;22)(p23;q12) --> 5' MYH9 - 3' ALK |
| Normal role description: | Heavy chain myosin binds actin. It is involved in cytoskeletal processes and potentially cell division. Defects have been associated with hereditary macrothrombocytopenia; role in oncogenesis described with translocation although this mechanism may be driven more through ALK signalling. |