MEF2C (pS387) Antibody

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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

MEF2C: transcription factor of the MADS family which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. May be involved in myogenesis, neurogenesis and in the development of cortical architecture. Three splice-variant isoforms have been described.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 5q14.3

Cellular Component: nucleoplasm; protein complex; intracellular membrane-bound organelle; cytoplasm; nuclear speck; nucleus; cytosol

Molecular Function: protein binding; miRNA binding; transcription activator binding; DNA binding; AT DNA binding; protein heterodimerization activity; histone deacetylase binding; chromatin binding; transcription factor activity

Biological Process: cardiac muscle hypertrophy; muscle development; nerve growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; heart development; regulation of neurotransmitter secretion; stress-activated MAPK cascade; regulation of synaptic plasticity; toll-like receptor 3 signaling pathway; toll-like receptor 5 signaling pathway; neuron differentiation; positive regulation of MAP kinase activity; B cell receptor signaling pathway; regulation of neuron apoptosis; negative regulation of ossification; positive regulation of B cell proliferation; chondrocyte differentiation; negative regulation of neuron apoptosis; toll-like receptor 4 signaling pathway; positive regulation of cardiac muscle cell proliferation; endochondral ossification; nervous system development; skeletal muscle development; monocyte differentiation; response to virus; myotube differentiation; positive regulation of skeletal muscle development; muscle cell fate determination; toll-like receptor 2 signaling pathway; muscle cell differentiation; regulation of synaptogenesis; neuron development; positive regulation of transcription from RNA polymerase II promoter; smooth muscle cell differentiation; toll-like receptor 9 signaling pathway; B cell proliferation; transcription from RNA polymerase II promoter; regulation of synaptic transmission, glutamatergic; apoptosis; neuron migration; ventricular cardiac muscle cell differentiation; regulation of synaptic activity; negative regulation of transcription from RNA polymerase II promoter; palate development; toll-like receptor 10 signaling pathway; learning and/or memory; B cell homeostasis; regulation of transcription, DNA-dependent; melanocyte differentiation; regulation of megakaryocyte differentiation; germinal center formation; neural crest cell differentiation; heart looping; negative regulation of epithelial cell proliferation; blood vessel development; MyD88-independent toll-like receptor signaling pathway; MAPKKK cascade; embryonic viscerocranium morphogenesis; positive regulation of bone mineralization; humoral immune response; regulation of germinal center formation; positive regulation of myoblast differentiation; osteoblast differentiation; MyD88-dependent toll-like receptor signaling pathway; positive regulation of osteoblast differentiation; neuron morphogenesis during differentiation; toll-like receptor signaling pathway; innate immune response; positive regulation of muscle cell differentiation; blood vessel remodeling; platelet formation; regulation of excitatory postsynaptic membrane potential; positive regulation of neuron differentiation

Disease: Mental Retardation, Autosomal Dominant 20