Mus musculus Protein: Mef2c
Summary
InnateDB Protein IDBP-627515.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mef2c
Protein Name myocyte enhancer factor 2C
Synonyms 5430401D19Rik; 9930028G15Rik; AV011172; Mef2;
Species Mus musculus
Ensembl Protein ENSMUSP00000132547
InnateDB Gene IDBG-170220 (Mef2c)
Protein Structure
UniProt Annotation
Function 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. May also be involved in neurogenesis and in the development of cortical architecture. Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1, isoform 2 and isoform 5 (By similarity). 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. {ECO:0000250, ECO:0000269PubMed:18086704, ECO:0000269PubMed:18438409, ECO:0000269PubMed:18599437, ECO:0000269PubMed:18599438, ECO:0000269PubMed:19211936, ECO:0000269PubMed:9162005, ECO:0000269PubMed:9778514}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00251}.
Disease Associations
Tissue Specificity Widely expressed though mainly restricted to skeletal and cardiac muscle, brain, neurons and lymphocytes. Beta beta domain-lacking isoforms are the most predominantly expressed in all tissues including skeletal and cardiac muscle and brain. Only brain expresses all isoforms. Expression occurs primarily in the internal granule cell layer of the olfactory bulb, cortex, thalamus, hippocampus and cerebellum. Low levels in the cerebellum and hindbrain. Expressed throughout the cortex, including the frontal and entorhinal cortex, dentate gyrus, and basolateral amygdala. Selectively expressed in B-cells but not in T-cells, and its expression increases as B-cells mature. {ECO:0000269PubMed:15340086, ECO:0000269PubMed:15834131, ECO:0000269PubMed:18438409, ECO:0000269PubMed:18599438, ECO:0000269PubMed:8506376, ECO:0000269PubMed:9013788}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 28 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 28 [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:0002467 germinal center formation
GO:0002634 regulation of germinal center formation
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:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0006959 humoral immune response
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0007521 muscle cell fate determination
GO:0007611 learning or memory
GO:0009615 response to virus
GO:0010613 positive regulation of cardiac muscle hypertrophy
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:0021542 dentate gyrus development
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:0033197 response to vitamin E
GO:0035690 cellular response to drug
GO:0035914 skeletal muscle cell differentiation
GO:0035984 cellular response to trichostatin A
GO:0042100 B cell proliferation
GO:0043406 positive regulation of MAP kinase activity
GO:0043523 regulation of neuron apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
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: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: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:0071300 cellular response to retinoic acid
GO:0071333 cellular response to glucose stimulus
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:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0030017 sarcomere
GO:0043234 protein complex
Protein Structure and Domains
PDB ID MGI:99458
InterPro IPR002100 Transcription factor, MADS-box
IPR022102 Holliday junction regulator protein family C-terminal
PFAM PF00319
PF12347
PRINTS PR00404
PIRSF
SMART SM00432
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8CFN5
PhosphoSite PhosphoSite-Q8CFN5
TrEMBL Q3V1B5
UniProt Splice Variant
Entrez Gene 17260
UniGene Mm.473403
RefSeq NP_001164008
MGI ID
MGI Symbol Mef2c
OMIM
CCDS CCDS49320
HPRD
IMGT
EMBL AK009139 AK132573 BC026841 BC037731 BC057650 CH466563
GenPept AAH26841 AAH37731 AAH57650 BAB26099 BAE21236 EDL37147