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: | MEF2C |
| Gene Name: | MEF2C |
| Protein Full Name: | Myocyte-specific enhancer factor 2C |
| Alias: | Myocyte-specific enhancer factor 2C: Myocyte-specific enhancer factor 2C: Myocyte-specific enhancer factor 2C |
| Mass (Da): | 51221 |
| Number AA: | 473 |
| UniProt ID: | Q06413 |
| Locus ID: | 4208 |
| COSMIC ID: | MEF2C |
| Gene location on chromosome: | 5q14.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20586 |
| Percent of cancer specimens with mutations: | 0.6 |
| Normal role description: | MEF2C is a transcription regulator. It is plays a role in myogenesis, vascular development, neuronal development and distribution, regulation of electrical activity in neocortex, megakaryoctye development, platelet development, B cell lymphophoiesis and regulation and maintaining differentiated state of muscle cells. Activation rearrangements has been shown to induce oncogenesis in cancers of the blood. |