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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]
Predicted intracellular proteins Transcription factors alpha-Helices exposed by beta-structures Disease related genes Protein evidence (Kim et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000165 [MAPK cascade] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0000983 [transcription factor activity, RNA polymerase II core promoter sequence-specific] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001568 [blood vessel development] GO:0001649 [osteoblast differentiation] GO:0001764 [neuron migration] GO:0001782 [B cell homeostasis] GO:0001947 [heart looping] GO:0001958 [endochondral ossification] GO:0001974 [blood vessel remodeling] GO:0002062 [chondrocyte differentiation] GO:0002224 [toll-like receptor signaling pathway] GO:0002467 [germinal center formation] GO:0002634 [regulation of germinal center formation] GO:0002755 [MyD88-dependent toll-like receptor signaling pathway] GO:0002756 [MyD88-independent toll-like receptor signaling pathway] GO:0003138 [primary heart field specification] GO:0003139 [secondary heart field specification] GO:0003151 [outflow tract morphogenesis] GO:0003185 [sinoatrial valve morphogenesis] GO:0003211 [cardiac ventricle formation] GO:0003677 [DNA binding] GO:0003680 [AT DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006915 [apoptotic process] GO:0006959 [humoral immune response] GO:0007399 [nervous system development] GO:0007507 [heart development] GO:0007517 [muscle organ development] GO:0007519 [skeletal muscle tissue development] GO:0007521 [muscle cell fate determination] GO:0007611 [learning or memory] GO:0009615 [response to virus] GO:0010628 [positive regulation of gene expression] GO:0010629 [negative regulation of gene expression] GO:0010694 [positive regulation of alkaline phosphatase activity] GO:0014033 [neural crest cell differentiation] GO:0014902 [myotube differentiation] GO:0016607 [nuclear speck] GO:0030182 [neuron differentiation] GO:0030220 [platelet formation] GO:0030279 [negative regulation of ossification] GO:0030318 [melanocyte differentiation] GO:0030501 [positive regulation of bone mineralization] GO:0030890 [positive regulation of B cell proliferation] GO:0033613 [activating transcription factor binding] GO:0034134 [toll-like receptor 2 signaling pathway] GO:0034138 [toll-like receptor 3 signaling pathway] GO:0034142 [toll-like receptor 4 signaling pathway] GO:0034146 [toll-like receptor 5 signaling pathway] GO:0034162 [toll-like receptor 9 signaling pathway] GO:0034166 [toll-like receptor 10 signaling pathway] GO:0035198 [miRNA binding] GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] GO:0035690 [cellular response to drug] GO:0035984 [cellular response to trichostatin A] GO:0038123 [toll-like receptor TLR1:TLR2 signaling pathway] GO:0038124 [toll-like receptor TLR6:TLR2 signaling pathway] GO:0042100 [B cell proliferation] GO:0042692 [muscle cell differentiation] GO:0043231 [intracellular membrane-bounded organelle] GO:0043234 [protein complex] GO:0043523 [regulation of neuron apoptotic process] GO:0043524 [negative regulation of neuron apoptotic process] GO:0044212 [transcription regulatory region DNA binding] GO:0045087 [innate immune response] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045663 [positive regulation of myoblast differentiation] GO:0045666 [positive regulation of neuron differentiation] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046928 [regulation of neurotransmitter secretion] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048167 [regulation of synaptic plasticity] GO:0048643 [positive regulation of skeletal muscle tissue development] GO:0048666 [neuron development] GO:0048667 [cell morphogenesis involved in neuron differentiation] GO:0050853 [B cell receptor signaling pathway] GO:0051145 [smooth muscle cell differentiation] GO:0051149 [positive regulation of muscle cell differentiation] GO:0051403 [stress-activated MAPK cascade] GO:0051963 [regulation of synapse assembly] GO:0051966 [regulation of synaptic transmission, glutamatergic] GO:0055012 [ventricular cardiac muscle cell differentiation] GO:0060025 [regulation of synaptic activity] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060079 [excitatory postsynaptic potential] GO:0060998 [regulation of dendritic spine development] GO:0061333 [renal tubule morphogenesis] GO:0071222 [cellular response to lipopolysaccharide] GO:0071277 [cellular response to calcium ion] GO:0071374 [cellular response to parathyroid hormone stimulus] GO:0071498 [cellular response to fluid shear stress] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:0072102 [glomerulus morphogenesis] GO:0072160 [nephron tubule epithelial cell differentiation] GO:0090073 [positive regulation of protein homodimerization activity] GO:2000111 [positive regulation of macrophage apoptotic process] GO:2000310 [regulation of N-methyl-D-aspartate selective glutamate receptor activity] GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] GO:2000727 [positive regulation of cardiac muscle cell differentiation] GO:2000987 [positive regulation of behavioral fear response] GO:2001013 [epithelial cell proliferation involved in renal tubule morphogenesis] GO:2001016 [positive regulation of skeletal muscle cell differentiation]