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: | PDE4DIP |
| Gene Name: | PDE4DIP |
| Protein Full Name: | Myomegalin |
| Alias: | Cardiomyopathy associated 2; CMYA2; KIAA0454; KIAA0477; MMGL; MYOME; Phosphodiesterase 4D interacting; Phosphodiesterase 4D interacting protein; Phosphodiesterase 4D interacting protein (myomegalin) |
| Mass (Da): | 91115 |
| Number AA: | 2346 |
| UniProt ID: | Q5VU43 |
| Locus ID: | 9659 |
| COSMIC ID: | PDE4DIP |
| Gene location on chromosome: | 1q22 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20358 |
| Percent of cancer specimens with mutations: | 2.13 |
| Deregulated in translocations: | t(1;5)(q22;q33) in chronic eosinophilic leukemia --> PDE4DIP - PDGFRB |
| Normal role description: | Interacts with PDE4D. May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes. Translocation results in leukemia formation. |