NP_001124477.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
51,221 Da
NCBI Official Full Name
myocyte-specific enhancer factor 2C isoform 2
NCBI Official Synonym Full Names
myocyte enhancer factor 2C
NCBI Protein Information
myocyte-specific enhancer factor 2C; MADS box transcription enhancer factor 2, polypeptide C
UniProt Protein Name
Myocyte-specific enhancer factor 2C
UniProt Entry Name
MEF2C_HUMAN
NCBI Summary for 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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
UniProt Comments for MEF2C
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; stress-activated MAPK cascade; regulation of neurotransmitter secretion; 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; endochondral ossification; positive regulation of cardiac muscle cell proliferation; 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; smooth muscle cell differentiation; positive regulation of transcription from RNA polymerase II promoter; toll-like receptor 9 signaling pathway; transcription from RNA polymerase II promoter; B cell proliferation; regulation of synaptic transmission, glutamatergic; apoptosis; ventricular cardiac muscle cell differentiation; neuron migration; 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; regulation of transcription, DNA-dependent; B cell homeostasis; regulation of megakaryocyte differentiation; melanocyte differentiation; germinal center formation; heart looping; neural crest cell differentiation; 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; positive regulation of myoblast differentiation; regulation of germinal center formation; osteoblast differentiation; MyD88-dependent toll-like receptor signaling pathway; positive regulation of osteoblast differentiation; neuron morphogenesis during differentiation; toll-like receptor signaling pathway; positive regulation of muscle cell differentiation; innate immune response; blood vessel remodeling; platelet formation; regulation of excitatory postsynaptic membrane potential; positive regulation of neuron differentiation
Disease: Mental Retardation, Autosomal Dominant 20
Research Articles on MEF2C
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Products associated with anti-MEF2C antibody
Pathways associated with anti-MEF2C antibody
Diseases associated with anti-MEF2C antibody
Organs/Tissues associated with anti-MEF2C antibody
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