MEF2C 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. Isoforms that lack the repressor domain are more active than isoform 1. Belongs to the MEF2 family. Expressed in brain and skeletal muscle. 6 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 5q14.3
Cellular Component:  cytoplasm; intracellular membrane-bounded organelle; nuclear speck; nucleoplasm; nucleus; postsynapse; protein-containing complex; sarcoplasm
Molecular Function:  activating transcription factor binding; AT DNA binding; chromatin binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; HMG box domain binding; protein binding; protein heterodimerization activity; RNA polymerase II distal enhancer sequence-specific DNA binding; RNA polymerase II regulatory region sequence-specific DNA binding; transcription regulatory region DNA binding
Biological Process:  apoptotic process; B cell homeostasis; B cell proliferation; B cell receptor signaling pathway; blood vessel development; blood vessel remodeling; cardiac muscle hypertrophy in response to stress; cardiac ventricle formation; cartilage morphogenesis; cell morphogenesis involved in neuron differentiation; cellular response to calcium ion; cellular response to drug; cellular response to fluid shear stress; cellular response to lipopolysaccharide; cellular response to parathyroid hormone stimulus; cellular response to transforming growth factor beta stimulus; cellular response to trichostatin A; chondrocyte differentiation; embryonic viscerocranium morphogenesis; endochondral ossification; epithelial cell proliferation involved in renal tubule morphogenesis; excitatory postsynaptic potential; germinal center formation; glomerulus morphogenesis; heart development; heart looping; humoral immune response; learning or memory; MAPK cascade; melanocyte differentiation; monocyte differentiation; muscle cell fate determination; muscle organ development; myotube differentiation; negative regulation of blood vessel endothelial cell migration; negative regulation of gene expression; negative regulation of neuron apoptotic process; negative regulation of ossification; negative regulation of transcription by RNA polymerase II; negative regulation of vascular associated smooth muscle cell migration; negative regulation of vascular endothelial cell proliferation; negative regulation of vascular smooth muscle cell proliferation; nephron tubule epithelial cell differentiation; nervous system development; neural crest cell differentiation; neuron development; neuron differentiation; neuron migration; osteoblast differentiation; outflow tract morphogenesis; platelet formation; positive regulation of alkaline phosphatase activity; positive regulation of B cell proliferation; positive regulation of behavioral fear response; positive regulation of bone mineralization; positive regulation of cardiac muscle cell differentiation; positive regulation of cardiac muscle cell proliferation; positive regulation of cell proliferation in bone marrow; positive regulation of gene expression; positive regulation of macrophage apoptotic process; positive regulation of muscle cell differentiation; positive regulation of myoblast differentiation; positive regulation of neuron differentiation; positive regulation of osteoblast differentiation; positive regulation of protein homodimerization activity; positive regulation of skeletal muscle cell differentiation; positive regulation of skeletal muscle tissue development; positive regulation of transcription by RNA polymerase II; positive regulation of transcription, DNA-templated; primary heart field specification; regulation of AMPA receptor activity; regulation of dendritic spine development; regulation of germinal center formation; regulation of megakaryocyte differentiation; regulation of neuron apoptotic process; regulation of neurotransmitter secretion; regulation of NMDA receptor activity; regulation of sarcomere organization; regulation of synapse assembly; regulation of synaptic activity; regulation of synaptic plasticity; regulation of synaptic transmission, glutamatergic; regulation of transcription, DNA-templated; renal tubule morphogenesis; roof of mouth development; secondary heart field specification; sinoatrial valve morphogenesis; skeletal muscle cell differentiation; skeletal muscle tissue development; smooth muscle cell differentiation; ventricular cardiac muscle cell differentiation
Disease: Mental Retardation, Autosomal Dominant 20
Reference #:  Q06413 (UniProtKB)
Alt. Names/Synonyms: C5DELq14.3; DEL5q14.3; MADS box transcription enhancer factor 2, polypeptide C; MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C); MEF2C; myocyte enhancer factor 2C; Myocyte-specific enhancer factor 2C
Gene Symbols: MEF2C
Molecular weight: 51,221 Da
Basal Isoelectric point: 8.14  Predict pI for various phosphorylation states
CST Pathways:  AMPK Signaling  |  B Cell Receptor Signaling  |  ErbB/HER Signaling  |  Regulation of P38 MAPKs
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein