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Cell line expression
MEF2C
gene productThis 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]
- Description
- Myocyte enhancer factor 2C
- Tissue specificity
- Group enriched (skeletal muscle, tongue)
- Subcell location
- Nucleoplasm, Vesicles
- Predicted location
- Intracellular
- Protein family
- Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors
- Chromosome
- 5:q14.3 (88717117 - 88904257)
- Ensembl ID
- ENSG00000081189 (ver. 103.38)
- Orthologs
- Mouse Mef2c: ENSMUSG00000005583
- UniProt
- Q06413
- neXtProt
- NX_Q06413
Human splice variants
Mouse splice variants
* nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. Read more
RNA data sourced from Human Protein Atlas.
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