MGP Database

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MGP001900

UniProt Annotations

Entry Information
Gene Namemyocyte enhancer factor 2C
Protein EntryMEF2C_HUMAN
UniProt IDQ06413
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q06413-1; Sequence=Displayed; Name=2; Synonyms=Muscle; IsoId=Q06413-2; Sequence=VSP_006248; Name=3; Synonyms=hMEF2C-delta32, Brain; IsoId=Q06413-3; Sequence=VSP_006249; Name=4; IsoId=Q06413-4; Sequence=VSP_043339, VSP_006248; Name=5; IsoId=Q06413-5; Sequence=VSP_045478, VSP_006248; Note=No experimental confirmation available.; Name=6; IsoId=Q06413-6; Sequence=VSP_046251, VSP_006248; Note=No experimental confirmation available.;
Developmental StageExpression is highest during the early stages of postnatal development, at later stages levels greatly decrease.
DiseaseMental retardation, autosomal dominant 20 (MRD20) [MIM:613443]: A disorder characterized by severe mental retardation, 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. {ECO:0000269|PubMed:19592390}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity. {ECO:0000250}.
FunctionTranscription 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. 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). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2. {ECO:0000250, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.
InteractionQ9H1R3:MYLK2; NbExp=2; IntAct=EBI-2684075, EBI-356910;
PtmAcetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). {ECO:0000250}.
PtmPhosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity. {ECO:0000250, ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15561718, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:16478538, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.
PtmProteolytically 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. {ECO:0000269|PubMed:11904443}.
PtmSumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity. {ECO:0000269|PubMed:15561718, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:16478538}.
SimilarityBelongs to the MEF2 family. {ECO:0000305}.
SimilarityContains 1 MADS-box domain. {ECO:0000255|PROSITE- ProRule:PRU00251}.
SimilarityContains 1 Mef2-type DNA-binding domain. {ECO:0000305}.
Subcellular LocationNucleus.
SubunitForms 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. Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4, HDAC7 AND HDAC9; the interaction WITH HDACs represses transcriptional activity. Interacts with MYOCD (By similarity). {ECO:0000250}.
Tissue SpecificityExpressed in brain and skeletal muscle. {ECO:0000269|PubMed:9798649}.
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