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FLASH GENE
Symbol MEF2C contributors: mct/ - updated : 18-08-2015
HGNC name myocyte enhancer factor 2C
HGNC id 6996
Corresponding disease
DEL5Q14 chromosome 5q deletion, proximal
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
    Physical map
    DSS1P1 5q14 hypothetical protein FLJ22344 APG10L 5q14.1 APG10 autophagy 10-like (S. cerevisiae) PPIP1 5q14.1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 RPS23 5q13-q14 ribosomal protein S23 LOC92270 5q14.1 hypothetical protein LOC92270 LOC389307 5 LOC389307 LOC391806 5 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein MGC23909 5q14.2 hypothetical protein MGC23909 XRCC4 5q11.2-q13.3 X-ray repair complementing defective repair in Chinese hamster cells 4 CSPG2 5q14.3 chondroitin sulfate proteoglycan 2 (versican) CRTL1 5q14.3 cartilage linking protein 1 EDIL3 5q14 EGF-like repeats and discoidin I-like domains 3 LOC391807 5 similar to peptidyl-Pro cis trans isomerase LOC391808 5 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC391809 5 similar to 28 kDa heat- and acid-stable phosphoprotein (PDGF-associated protein) (PAP) (PDGFA-associated protein 1) (PAP1) MGC48637 5q14.3 hypothetical protein MGC48637 COX7C 5q14 cytochrome c oxidase subunit VIIc LOC389308 5 similar to ribosomal protein L10a FLJ11292 5q14.3 hypothetical protein FLJ11292 RASA1 5q13.3 RAS p21 protein activator (GTPase activating protein) 1 CCNH 5q13.3-q14 cyclin H MGC33214 5q14.3 hypothetical protein MGC33214 MEF2C 5q14 MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) CETN3 5q14.3 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) LOC153364 5q14.3 similar to metallo-beta-lactamase superfamily protein like (XL884) RPC32 5q14.3 polymerase (RNA) III (DNA directed) (32kD) LOC116068 5q14.3 hypothetical protein LOC116068 MASS1 5q14.1 monogenic, audiogenic seizure susceptibility 1 homolog (mouse) LOC133790 5q14.3 similar to ribosomal protein S18, cytosolic [validated] - rat KIAA1376 LOC133789 5q14.3 similar to Rab5c protein LOC391810 5 similar to T-complex protein 1, eta subunit (TCP-1-eta) (CCT-eta) (HIV-1 Nef interacting protein) LOC391811 5 similar to DNA polymerase delta subunit 2 NR2F1 5q14 nuclear receptor subfamily 2, group F, member 1 LOC389309 5 LOC389309 DKFZP564D172 5q15 hypothetical protein DKFZp564D172 FLJ25680 5q15 hypothetical protein FLJ25680 FLJ12078 5q15 hypothetical protein FLJ12078 KIAA0825 5q15 KIAA0825 protein MGC34713 5q15 hypothetical protein MGC34713 DKFZp761C121 5q15 hypothetical protein DKFZp761C121 FLJ22344 5q15 hypothetical protein FLJ22344 LOC389310 5 LOC389310 FLJ25333 5q15 hypothetical protein FLJ25333 KIAA0372 5q13-q15 hypothetical protein FLJ25333 DKFZp313G1735 5q15 hypothetical protein DKFZp313G1735
    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    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
  • 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
    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