Homo sapiens Gene: MEF2C
Summary
InnateDB Gene IDBG-33077.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEF2C
Gene Name myocyte enhancer factor 2C
Synonyms C5DELq14.3; DEL5q14.3;
Species Homo sapiens
Ensembl Gene ENSG00000081189
Encoded Proteins
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
myocyte enhancer factor 2C
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:88718158-88904105
Strand Reverse strand
Band q14.3
Transcripts
ENST00000340208 ENSP00000340874
ENST00000424173 ENSP00000389610
ENST00000437473 ENSP00000396219
ENST00000514028 ENSP00000426665
ENST00000510942 ENSP00000422390
ENST00000506554 ENSP00000425636
ENST00000508569 ENSP00000423597
ENST00000514015 ENSP00000424606
ENST00000510980
ENST00000515715
ENST00000513252 ENSP00000423826
ENST00000506716 ENSP00000423656
ENST00000503554
ENST00000504921 ENSP00000421925
ENST00000507984 ENSP00000424331
ENST00000502983 ENSP00000427163
ENST00000508610 ENSP00000426442
ENST00000502831 ENSP00000427286
ENST00000503075 ENSP00000426465
ENST00000511086
ENST00000509373 ENSP00000427309
ENST00000515093
ENST00000509349
ENST00000503955
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 43 [view]
Protein-Protein 40 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001205 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0033613 activating transcription factor binding
GO:0035198 miRNA binding
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0071837 HMG box domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000165 MAPK cascade
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:0002931 response to ischemia
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:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
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:0014898 cardiac muscle hypertrophy in response to stress
GO:0014902 myotube differentiation
GO:0030182 neuron differentiation
GO:0030220 platelet formation
GO:0030224 monocyte differentiation
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: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: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:0043406 positive regulation of MAP kinase activity
GO:0043523 regulation of neuron apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0045087 innate immune response
GO:0045165 cell fate commitment
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: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:0048703 embryonic viscerocranium morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0050680 negative regulation of epithelial cell proliferation
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:0055007 cardiac muscle cell differentiation
GO:0055012 ventricular cardiac muscle cell differentiation
GO:0060021 palate development
GO:0060025 regulation of synaptic activity
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060079 regulation of excitatory postsynaptic membrane potential
GO:0060297 regulation of sarcomere organization
GO:0060536 cartilage morphogenesis
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:0071864 positive regulation of cell proliferation in bone marrow
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
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Notch pathway
TGF_beta_Receptor pathway
Oncostatin_M pathway
REACTOME
Organelle biogenesis and maintenance pathway
MyD88 dependent cascade initiated on endosome pathway
Developmental Biology pathway
Signalling by NGF pathway
Toll Like Receptor 7/8 (TLR7/8) Cascade pathway
Circadian Clock pathway
Toll Like Receptor TLR1:TLR2 Cascade pathway
CDO in myogenesis pathway
Toll Like Receptor 9 (TLR9) Cascade pathway
Toll Like Receptor TLR6:TLR2 Cascade pathway
MyD88 cascade initiated on plasma membrane pathway
Mitochondrial biogenesis pathway
Innate Immune System pathway
Toll Like Receptor 3 (TLR3) Cascade pathway
Toll Like Receptor 2 (TLR2) Cascade pathway
Toll-Like Receptors Cascades pathway
Signal Transduction pathway
MAP kinase activation in TLR cascade pathway
Myogenesis pathway
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation pathway
Immune System pathway
MyD88-independent cascade pathway
MyD88:Mal cascade initiated on plasma membrane pathway
Transcriptional activation of mitochondrial biogenesis pathway
NGF signalling via TRKA from the plasma membrane pathway
Toll Like Receptor 4 (TLR4) Cascade pathway
Activated TLR4 signalling pathway
Nuclear Events (kinase and transcription factor activation) pathway
MAPK targets/ Nuclear events mediated by MAP kinases pathway
TRIF-mediated TLR3/TLR4 signaling pathway
ERK/MAPK targets pathway
Toll Like Receptor 5 (TLR5) Cascade pathway
Toll Like Receptor 10 (TLR10) Cascade pathway
KEGG
MAPK signaling pathway pathway
INOH
PID BIOCARTA
Regulation of pgc-1a [Biocarta view]
Angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling [Biocarta view]
Nfat and hypertrophy of the heart [Biocarta view]
P38 mapk signaling pathway [Biocarta view]
Control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) [Biocarta view]
Alk in cardiac myocytes [Biocarta view]
Carm1 and regulation of the estrogen receptor [Biocarta view]
Mapkinase signaling pathway [Biocarta view]
Role of erk5 in neuronal survival pathway [Biocarta view]
Signal dependent regulation of myogenesis by corepressor mitr [Biocarta view]
PID NCI
Trk receptor signaling mediated by the MAPK pathway
Regulation of retinoblastoma protein
ErbB1 downstream signaling
Signaling events mediated by HDAC Class II
Regulation of nuclear SMAD2/3 signaling
Signaling mediated by p38-alpha and p38-beta
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654474 Hs.714389
RefSeq NM_001131005 NM_001193347 NM_001193348 NM_001193349 NM_001193350 NM_002397 XM_006714621 XM_006714622 XM_006714625
HUGO
OMIM
CCDS CCDS47244 CCDS47245 CCDS54877 CCDS54878
HPRD 02809
IMGT
EMBL
GenPept
RNA Seq Atlas