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FLASH GENE
Symbol MEF2C contributors: mct/ - updated : 18-08-2017
HGNC name myocyte enhancer factor 2C
HGNC id 6996
Corresponding disease
DEL5Q14 chromosome 5q deletion, proximal
MRSMCM mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Location 5q14.3      Physical location : 88.014.057 - 88.199.922
Synonym name
  • MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)
    • DNA
    TYPE functioning gene
    STRUCTURE 185.87 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • NRL activated the MEF2C alternative promoter
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text MEF2C is expressed in the mature retina from an alternative promoter (PMID: 21849497)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 6254 - 483 - -
    11 - 6449 51 473 - 2008 18079734
    11 - 6194 50 463 - 2008 18079734
    8 - 5766 - 417 -
    11 - 6446 - 473 - -
    9 - 5694 - 393 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis   
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MADS (yeast Mcm1, plant homeotic Agamous and Deficiens, human Serum response factor)
  • a MEF2 specific domain, forming with MADS a DNA binding and dimerization domain
    • HOMOLOGY
    Homologene
    FAMILY
  • MEF2 family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • associating with HDAC4, HDAC in regulation of skeletal myogenesis, cardiac morphogenesis and right ventricular development and important regulator of chondrocyte gene expression
  • may be having a fundamental role in ventricular cardiomyocyte differentiation and apportioning of cells between inflow and outflow precursors in the primary heart field
  • important component in GNA13-mediated angiogenesis
  • mediating calcium-dependent transcription of the interleukin-2 gene in T lymphocytes
  • implicated in neuronal activity-dependent cell survival, and may be regulate excitatory synapse number and postsynaptic differentiation of dendrites
  • required to limit excessive increases in the number of excitatory synapses, although it does not hinder synaptogenesis seen during initial development of synaptic connectivity
  • facilitates learning and memory by negative regulation of synapse numbers and function
  • playing a crucial role in programming early neuronal differentiation and proper distribution within the layers of the neocortex
  • implicated in the regulation of adult bone mass
  • plays a pivotal role in early neuronal differentiation
  • functional cooperation of TBX5 and MEF2C links MEF2C to the higher-order protein complex regulating heart development
  • important regulator of brain, skeleton, lymphocyte and cardiovascular development and is required in the neural crest for craniofacial development
  • might serve as a potentiator of the transcriptional pathways affected in Waardenburg syndromes
  • is a transcriptional regulator of homeostasis in rod photoreceptor cells
  • GLI2 and MEF2C play important roles in the development of embryonic heart muscle and enhance cardiomyogenesis in stem cells
  • key role of MEF2C isoform in the brain, suggesting that MEF2A and MEF2D have only subtle roles in regulating hippocampal synaptic function (
  • novel role for MEF2C/MEF2D in coordinating the transcriptional network that promotes early B-cell development
  • is a transcription factor, and critical to its function is the DNA-binding domain located at the extreme N-terminal region
  • MEF2C is highly expressed in the retina where it modulates likely photoreceptor-specific gene expression
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • the MEF2C-SOST transcriptional axis has important implications for the anabolic treatment of disorders in which bone loss is a significant component
    • INTERACTION
    DNA binding to myocyte-specific enhancer
    RNA
    small molecule
    protein
  • binding to TWIST to inhibit myogenesis
  • binding MITR, HDAC4
  • binding to members of the MyoD family of transcriptional activator
  • interacting with NFATC2
  • binding SUV39H1 and CABIN1 (targeting its promoter in a calcium-dependent manner)
  • interacting with SMYD1 (SMYD1 expression in the developing heart depends on the direct binding of MEF2C to a MEF2-response element in the SMYD1 promoter)
  • physically associates with TBX5 and cooperatively activates transcription from the MYH6 promoter
  • PIN1 interacts selectively with phosphorylated MEF2C in skeletal muscle cells
  • direct transcriptional target of SOX10 and MEF2A via a evolutionarily conserved enhancer
  • MEF2C expression from an alternative promoter in the retina is regulated by NRL
  • MEF2C is the main transcription factor responsible for bone enhancer ECR5-dependent SOST transcriptional activation in the adult skeleton
  • POSTN regulates SOST expression upstream of MEF2C
  • APLN, APLNR signaling is a potent regulator of endothelial MEF2C function in the developing cardiovascular system
  • essential and redundant roles of MEF2A, MEF2C, and MEF2D in satellite cell differentiation
  • is positioned to interact with the MEF2C pathway known to be important in developmental epilepsies and the CREB1 pathway implicated in epilepsy pathogenesis
  • MEF2C regulates outflow tract alignment and transcriptional control of TDGF1
    • cell & other
    REGULATION
    activated by PRKM7
    Phosphorylated by MYLK, on T(80) by skeletal myosin light chain kinase (MYLK) enhances skeletal and not cardiac myogenesis
    Other negatively regulated by MITR in association with HDAC1,HDAC4
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL5Q14 , MRSMCM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    activated by multiple mechanisms in a subset of T-acute lymphoblastic leukemia cell lines
    constitutional     --low  
    of endogenous GNA13 and MEF2 proteins in endothelial cells reduced cell proliferation and capillary tube formation
    Susceptibility to infantile spasms (ISS)
    Variant & Polymorphism other CNV associated with infantile spasms (ISS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice displayed autistic phenotypes resembling Rett syndrome in that they manifested altered anxiety and increased stereotypy (purposeless movements) on neurobehavioral testing, representing key characteristics of autism-spectrum disorders
  • inactivation of Mef2c in the neural crest of mice results in reduced expression of melanocyte genes during development and a significant loss of pigmentation at birth due to defective differentiation and reduced abundance of melanocytes
  • Mef2c knock-down in murine 661W cells reduced the expression of Arr3 and Opn1mw but increased transcript levels of Mapk15 and Pde6h