MEF2C

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]

Myocyte Enhancer Factor 2C

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.

Apoptotic process Source: UniProtKB-KW
B cell homeostasis Source: UniProtKB
B cell proliferation Source: UniProtKB
B cell receptor signaling pathway Source: UniProtKB
Blood vessel development Source: UniProtKB
Blood vessel remodeling Source: UniProtKB
Cardiac ventricle formation Source: UniProtKB
Cell differentiation Source: GO_Central
Cell morphogenesis involved in neuron differentiation Source: Alzheimers_University_of_Toronto
Cellular response to calcium ion Source: UniProtKB
Cellular response to fluid shear stress Source: UniProtKB
Cellular response to lipopolysaccharide Source: UniProtKB
Cellular response to parathyroid hormone stimulus Source: UniProtKB
Cellular response to transforming growth factor beta stimulus Source: UniProtKB
Cellular response to trichostatin A Source: UniProtKB
Cellular response to xenobiotic stimulus Source: UniProtKB
Chondrocyte differentiation Source: UniProtKB
Endochondral ossification Source: UniProtKB
Epithelial cell proliferation involved in renal tubule morphogenesis Source: UniProtKB
Excitatory postsynaptic potential Source: Alzheimers_University_of_Toronto
Germinal center formation Source: UniProtKB
Glomerulus morphogenesis Source: UniProtKB
Heart development Source: UniProtKB
Heart looping Source: UniProtKB
Humoral immune response Source: UniProtKB
Learning or memory Source: UniProtKB
MAPK cascade Source: UniProtKB
Melanocyte differentiation Source: UniProtKB
Muscle cell fate determination Source: UniProtKB
Muscle organ development Source: ProtInc
Myotube differentiation Source: UniProtKB
Negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
Negative regulation of gene expression Source: UniProtKB
Negative regulation of neuron apoptotic process Source: UniProtKB
Negative regulation of ossification Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Negative regulation of vascular associated smooth muscle cell migration Source: BHF-UCL
Negative regulation of vascular associated smooth muscle cell proliferation Source: BHF-UCL
Negative regulation of vascular endothelial cell proliferation Source: BHF-UCL
Nephron tubule epithelial cell differentiation Source: UniProtKB
Nervous system development Source: ProtInc
Neural crest cell differentiation Source: UniProtKB
Neuron development Source: UniProtKB
Neuron differentiation Source: UniProtKB
Neuron migration Source: Alzheimers_University_of_Toronto
Osteoblast differentiation Source: UniProtKB
Outflow tract morphogenesis Source: UniProtKB
Platelet formation Source: UniProtKB
Positive regulation of alkaline phosphatase activity Source: UniProtKB
Positive regulation of B cell proliferation Source: UniProtKB
Positive regulation of behavioral fear response Source: UniProtKB
Positive regulation of bone mineralization Source: UniProtKB
Positive regulation of cardiac muscle cell differentiation Source: UniProtKB
Positive regulation of cardiac muscle cell proliferation Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of macrophage apoptotic process Source: UniProtKB
Positive regulation of MAP kinase activity Source: Alzheimers_University_of_Toronto
Positive regulation of myoblast differentiation Source: UniProtKB
Positive regulation of neuron differentiation Source: UniProtKB
Positive regulation of osteoblast differentiation Source: UniProtKB
Positive regulation of skeletal muscle cell differentiation Source: UniProtKB
Positive regulation of skeletal muscle tissue development Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Primary heart field specification Source: UniProtKB
Regulation of AMPA receptor activity Source: Alzheimers_University_of_Toronto
Regulation of dendritic spine development Source: Alzheimers_University_of_Toronto
Regulation of germinal center formation Source: UniProtKB
Regulation of megakaryocyte differentiation Source: UniProtKB
Regulation of neuron apoptotic process Source: Alzheimers_University_of_Toronto
Regulation of neurotransmitter secretion Source: Alzheimers_University_of_Toronto
Regulation of NMDA receptor activity Source: Alzheimers_University_of_Toronto
Regulation of synapse assembly Source: Alzheimers_University_of_Toronto
Regulation of synaptic activity Source: UniProtKB
Regulation of synaptic plasticity Source: Alzheimers_University_of_Toronto
Regulation of synaptic transmission, glutamatergic Source: Alzheimers_University_of_Toronto
Regulation of transcription, DNA-templated Source: Alzheimers_University_of_Toronto
Regulation of transcription by RNA polymerase II Source: GO_Central
Renal tubule morphogenesis Source: UniProtKB
Response to ischemia Source: Alzheimers_University_of_Toronto
Secondary heart field specification Source: UniProtKB
Sinoatrial valve morphogenesis Source: UniProtKB
Skeletal muscle tissue development Source: UniProtKB
Smooth muscle cell differentiation Source: UniProtKB
Ventricular cardiac muscle cell differentiation Source: UniProtKB

Nucleus
Other locations
sarcoplasm

Mental retardation, autosomal dominant 20 (MRD20):
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.

Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.
Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity).
Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.
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.