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: | MEF2D |
| Gene Name: | MEF2D |
| Protein Full Name: | Myocyte-specific enhancer factor 2D |
| Alias: | MEFD; myocyte enhancer factor 2D |
| Mass (Da): | 55938 |
| Number AA: | 521 |
| UniProt ID: | Q14814 |
| Locus ID: | 4209 |
| COSMIC ID: | MEF2D |
| 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: | 20149 |
| Percent of cancer specimens with mutations: | 0.47 |
| Deregulated in translocations: | Translocation t(1;19)(q23;p13.3) --> DAZAP1/MEF2D & MEF2D/DAZAP1 fusion genes that are expressed in acute lymphoblastic leukemia (ALL). |
| Normal role description: | MEF2D is a transcriptional activator responsible for mediating cellular functions in skeletal and cardiac muscle development, and neuronal differentiation and survival. It also plays a role in regulating cell growth, survival and apoptosis via the p38 MAPK signalling pathway in muscle-specific and GF-related transcription. Fusion of the gene to A DAZAP1 have been implicated in acute lymphoblastic leukemia. |