| Entrez Gene ID | 4208 |
|---|---|
| Official Gene Symbol | MEF2C (GeneCards) |
| Full name | myocyte enhancer factor 2C |
| Location | 5q14.3 |
| Other ids | Vega : OTTHUMG00000162634 MIM : 600662 HGNC : HGNC:6996 Ensembl : ENSG00000081189 |
| Other names | DEL5q14.3, C5DELq14.3 |
| Summary | This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8156 | 4208 | MEF2C | 5 | 88114736 | 88114736 | Asymptomatic | HiSeq X Ten |
| 8271 | 4208 | MEF2C | 5 | 88118735 | 88118735 | Asymptomatic | HiSeq X Ten |
| 8272 | 4208 | MEF2C | 5 | 88135660 | 88135660 | Asymptomatic | HiSeq X Ten |
| 29461 | 4208 | MEF2C | 5 | 88018537 | 88018537 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |