{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q06413","secondaryAccessions":["C9JMZ0","D7F7N5","F8W7V7"],"uniProtkbId":"MEF2C_HUMAN","entryAudit":{"firstPublicDate":"1997-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1997-11-01","entryVersion":220,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Myocyte-specific enhancer factor 2C"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:6996"}],"value":"Myocyte enhancer factor 2C"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:6996"}],"value":"MEF2C"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFN5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11904443"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15340086"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15831463"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15834131"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9069290"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9384584"}],"value":"Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFN5"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10523670"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11535832"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15862299"}],"value":"Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation (By similarity). Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4 and HDAC9; the interaction with HDACs represses transcriptional activity (PubMed:10523670, PubMed:11535832). Interacts with LPIN1. Interacts with MYOCD. Interacts with AKAP13 (By similarity). Interacts with FOXK1; the interaction inhibits MEF2C transactivation activity (By similarity). Interacts (via N-terminus) with HABP4; this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress (PubMed:15862299). Interacts with JPH2; interaction specifically takes place with the Junctophilin-2 N-terminal fragment cleavage product of JPH2 (By similarity). Interacts (via MADS box) with SOX18 (By similarity). Interacts with PHF7; the interaction promotes MEF2C binding to its transcription targets (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"Q13936","geneName":"CACNA1C","intActId":"EBI-1038838"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"P56524-2","geneName":"HDAC4","intActId":"EBI-11953488"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"Q9UQL6","geneName":"HDAC5","intActId":"EBI-715576"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"Q9UKV0","geneName":"HDAC9","intActId":"EBI-765444"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"Q9H1R3","geneName":"MYLK2","intActId":"EBI-356910"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q06413","intActId":"EBI-2684075"},"interactantTwo":{"uniProtKBAccession":"Q05086","geneName":"UBE3A","intActId":"EBI-954357"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A096MJY4"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A0A096MJY4"}],"value":"Cytoplasm, sarcoplasm","id":"SL-0311"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q06413-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"value":"Muscle"}],"isoformIds":["Q06413-2"],"sequenceIds":["VSP_006248"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"hMEF2C-delta32"},{"value":"Brain"}],"isoformIds":["Q06413-3"],"sequenceIds":["VSP_006249"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q06413-4"],"sequenceIds":["VSP_043339","VSP_006248"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q06413-5"],"sequenceIds":["VSP_045478","VSP_006248"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["Q06413-6"],"sequenceIds":["VSP_046251","VSP_006248"],"isoformSequenceStatus":"Described"}],"note":{"texts":[{"value":"Additional isoforms seem to exist."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9798649"}],"value":"Expressed in brain and skeletal muscle"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"value":"Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10849446"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15340086"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15561718"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15743823"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16478538"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9069290"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9384584"}],"value":"Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15561718"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15743823"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16478538"}],"value":"Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11904443"}],"value":"Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language","diseaseAccession":"DI-02856","acronym":"NEDHSIL","description":"An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.","diseaseCrossReference":{"database":"MIM","id":"613443"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19592390"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the MEF2 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":473,"modifier":"EXACT"}},"description":"Myocyte-specific enhancer factor 2C","featureId":"PRO_0000199433"},{"type":"Domain","location":{"start":{"value":3,"modifier":"EXACT"},"end":{"value":57,"modifier":"EXACT"}},"description":"MADS-box","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00251"}]},{"type":"DNA binding","location":{"start":{"value":58,"modifier":"EXACT"},"end":{"value":86,"modifier":"EXACT"}},"description":"Mef2-type","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Region","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":116,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":180,"modifier":"EXACT"},"end":{"value":224,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":271,"modifier":"EXACT"},"end":{"value":278,"modifier":"EXACT"}},"description":"Beta domain"},{"type":"Region","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":399,"modifier":"EXACT"}},"description":"Transcription repressor"},{"type":"Region","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":473,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":375,"modifier":"EXACT"},"end":{"value":390,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":419,"modifier":"EXACT"},"end":{"value":432,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":443,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Site","location":{"start":{"value":432,"modifier":"EXACT"},"end":{"value":433,"modifier":"EXACT"}},"description":"Cleavage","evidences":[{"evidenceCode":"ECO:0000305"}]},{"type":"Modified residue","location":{"start":{"value":4,"modifier":"EXACT"},"end":{"value":4,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CFN5"}]},{"type":"Modified residue","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":59,"modifier":"EXACT"}},"description":"Phosphoserine; 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