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FLASH GENE
Symbol MEF2D contributors: mct/ - updated : 20-12-2017
HGNC name myocyte enhancer factor 2D
HGNC id 6997
Location 1q22      Physical location : 156.433.519 - 156.470.529
Synonym name
  • MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D)
  • MEF2D/DAZAP1 fusion
  • myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein
  • MEF2D/DAZAP1 fusion
  • Synonym symbol(s) EVI53, MEFD, DKFZp686I1536
    DNA
    TYPE functioning gene
    STRUCTURE 37.12 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • ZBTB7A binds two putative recognition sites located within the upstream region of the MEF2D promoter and enhances its transcription
  • MAPPING cloned Y linked N status provisional
    Physical map
    FLJ20203 1q22 hypothetical protein FLJ20203 SYT11 1q21.2 synaptotagmin XI RIT1 1q21.2 Ras-like without CAAX 1 KIAA0907 1q21 Ras-like without CAAX 1 GPR100 1q22 G protein-coupled receptor 100 ARHGEF2 1q11-q21 rho/rac guanine nucleotide exchange factor (GEF) 2 SSR2 1q21-q23 signal sequence receptor, beta (translocon-associated protein beta) C1orf6 1q21 chromosome 1 open reading Frame 6 MAPBPIP 1q22 mitogen-activated protein-binding protein-interacting protein RAB25 1q21.2 RAB25, member RAS oncogene family LOC92312 1q22-q23.1 hypothetical protein LOC92312 LMNA 1q21.2-q21.3 lamin A/C FLJ12287 1q22 hypothetical protein FLJ12287 similar to semaphorins LOC388706 1 LOC388706 KIAA0446 1q23.1 KIAA0446 gene product PMF1 1q12-q21.1 polyamine-modulated factor 1 BGLAP 1q25-q31 bone gamma-carboxyglutamate (gla) protein (osteocalcin) PAQR6 1q23.1 progestin and adipoQ receptor family member VI EST1B 1q21.2 Est1p-like protein B MGC13102 1q23.1 hypothetical protein MGC13102 MGC31963 1q23.1 kidney predominant protein NCU-G1 LOC391104 1 similar to Von Hippel-Lindau disease tumor suppressor (pVHL) (G7 protein) CCT3 1q23 chaperonin containing TCP1, subunit 3 (gamma) SSTK-IP 1q23.1 SSTK-interacting protein RHBG 1q21.3 Rhesus blood group, B glycoprotein CROC4 1q12-q25 Rhesus blood group, B glycoprotein MEF2D 1q12-q23 MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D) IQGAP3 1q21.3 IQ motif containing GTPase activating protein 3 LOC164118 1q23.1 similar to RIKEN cDNA A430025D11 APOA1BP 1q21.2 apolipoprotein A-I binding protein FLJ20249 1q22 hypothetical protein FLJ20249 BRAL1 1q22 hypothetical protein FLJ20249 BCAN 1q23-q31 hypothetical protein FLJ20249 NES 1q23.1 nestin CRABP2 1q21.3 cellular retinoic acid binding protein 2 FLJ12671 1q23.1 hypothetical protein FLJ12671 CGI-41 1q23.1 CGI-41 protein MRPL24 1q21-q22 mitochondrial ribosomal protein L24 HDGF Xq25 hepatoma-derived growth factor (high-mobility group protein 1-like) PRCC 1q21.2 papillary renal cell carcinoma (translocation-associated) SH2D2A 1q21 SH2 domain protein 2A INSRR 1q21-q23 insulin receptor-related receptor NTRK1 1q22 neurotrophic tyrosine kinase, receptor, type 1 FLJ00193 1q23.1 FLJ00193 protein FLJ32884 1q23.1 hypothetical protein FLJ32884 ARHGEF11 1q21-q23 Rho guanine nucleotide exchange factor (GEF) 11 LOC246784 1q21.3 homolog of C. elegans smu-1 pseudogene
    RNA
    TRANSCRIPTS type messenger
    text several alternatively spliced products (PMID: 8269842, PMID: 15834131)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5888 55.8 521 - 1999 9858528
    12 - 5694 - 514 - 1999 9858528
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     pancreas exocrine   moderately
    Hearing/Equilibriumear   moderately
    Lymphoid/Immunelymph node   moderately
     spleen   highly
    Skin/Tegumentskin   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    cell lineage muscle cell lineage (myotubes, undifferentiated myoblasts) ; expressed in both proliferating neural precursor cells and in differentiated cells that acquire neuronal or glial phenotypes
    cell lines
    fluid/secretion blood, lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MADS-box, (yeast Mcm1, plant homeotic Agamous and Deficiens, Serum response factor SRF)
  • a MEF2-type specific domain and forming with it a DNA binding and dimerization domains
  • conjugated PhosphoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Mef2d
    ortholog to murine Mef2d
    homolog to zebrafish mef2d
    homolog to C. elegans mef-2
    Homologene
    FAMILY
  • MEF2 family
  • MADS box family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm
    text
  • continuously shuttles to the cytoplasm
  • expression in the nucleus increases progressively during the course of differentiation while decreasing in glial cells
  • basic FUNCTION
  • mediating calcium-dependent transcription of the interleukin-2 gene in T lymphocytes
  • activating transcription via the MEF2 element present in the regulatory regions of many muscle-specific genes
  • may be involved in muscle-specific and/or growth factor-related transcription
  • DNA binding proteins activating transcription of genes involved in control of muscle cell differentiation, and signaling pathways that mediate response to mitogenic signals and survival of neurons and T-lymphocytes
  • implicated in neuronal activity-dependent cell survival, and may be regulate excitatory synapse number and postsynaptic differentiation of dendrites
  • regulate neuronal development by controlling synapse formation and supporting the survival of newly formed neurons
  • nuclear transcription factor known to promote neuronal survival
  • transcription factor required for neuronal survival, that continuously shuttle to the cytoplasm, interact with the chaperone Hsc70, and undergo degradation
  • possible dual roles of MEF2A and MEF2D in macrophages, as activators or as repressors of gene transcription
  • neuronal survival factor MEF2D is decreased in Parkinson disease, and this decrease is specifically associated with SNCA accumulation and aggregation
  • key role of MEF2C isoform in the brain, suggesting that MEF2A and MEF2D have only subtle roles in regulating hippocampal synaptic function (
  • essential and redundant roles of MEF2A, MEF2C, and MEF2D in satellite cell differentiation
  • MEF2D is essential for photoreceptor and bipolar cell gene expression, either independently or cooperatively with CRX
  • in the retina MEF2D binds to retina-specific enhancers and controls photoreceptor cell development
  • is a key transcriptional mediator of pathological remodeling in the adult heart downstream of various stress-promoting insults
  • novel role for MEF2C/MEF2D in coordinating the transcriptional network that promotes early B-cell development
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text skeletal myogenesis
    PATHWAY
    metabolism
    signaling
    a component
  • MEF2A/MEF2D dimers strongly interact with HDAC1, and to a lesser extent with HDAC7 in macrophages, whereas low levels of MEF2A/MEF2D–HDAC1 complexes are found in undifferentiated cells or in monocytes
  • INTERACTION
    DNA
  • binding to myocyte-specific enhancer
  • binding specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes
  • RNA
    small molecule
    protein
  • TWIST to inhibit myogenesis
  • members of the MyoD family of transcriptional activator
  • NFATC2
  • HDAC4
  • primary target of PKA signaling in myoblasts that leads to inhibition of the skeletal muscle differentiation program
  • YWHAQ/14-3-3tau
  • fusion MEF2D/DAZAP1 and/or DAZAP1/MEF2D contribute to leukemogenesis by altering signaling pathways normally regulated by wild-type MEF2D and DAZAP1
  • binding SUV39H1 and CABIN1 (targeting its promoter in a calcium-dependent manner)
  • interacting with the chaperone Hsc70 and undergo degradation
  • expression of MYOG is regulated, at least in part, by the decreased glycosylation-dependent recruitment of MEF2D to the promoter region, and this is one of the negative regulatory mechanisms of skeletal myogenesis by O-GlcNAc glycosylation
  • ATM phosphorylates and activates the transcription factor myocyte enhancer factor 2D (MEF2D), which plays a critical role in promoting survival of cerebellar granule cells
  • MEF2D and ROCK2 are RBFOX2 splicing targets
  • direct and specific RBFOX1 and RBFOX2 binding to MEF2D pre-mRNA
  • MEF2D achieves specificity by cooperating with a retina-specific factor CRX, which recruits MEF2D away from canonical MEF2 binding sites
  • is a critical regulator of IL10 gene expression that negatively controls microglia inflammation response and prevents inflammation-mediated cytotoxicity
  • expression of PTEN, the primary negative regulator of PI3K/Akt, was significantly reduced in MEF2D-deficient cardiomyocytes and found to be a direct target gene of MEF2D
  • MEF2D regulates IGF1-induced proliferation and apoptosis in cardiac myxoma (CM) development
  • cell & other
    REGULATION
    repressed by oxidation, that inhibits its function, underlies oxidative stress-induced neurotoxicity, and may be a part of the Parkinson disease pathogenic process
    Other negatively regulated by MITR in association with HDAC1
    enhanced by YWHAQ/14-3-3tau for its transactivational activity
    is regulated by chaperone-mediated autophagy
    directly phosphorylated by GSK3B in neuronal apoptosis
    lysine methylation state of MEF2D regulates its transcriptional activity and skeletal muscle cell differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with DAZAP1 in a pre-B acute lymphoblastic leukemia with t(1;19)(q23;p13)
    constitutional        
    protein levels are increased in the brain of patients with Parkinson's disease
    tumoral     --over  
    in pancreatic cancer tissues compared to adjacent normal tissues and the increased expression of MEF2D was associated with tumor size, histological differentiation, and TNM stage of pancreatic cancer patients
    tumoral     --over  
    in cardiac myxoma (CM) tissues compared with adjacent normal tissues and closely related to tumor size
    constitutional       loss of function
    prolonged deficiency of MEF2D in neonatal cardiomyocytes did not trigger proliferation but instead resulted in programmed cell death
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    targeting ZBTB7A and MEF2D may be an effective strategy to suppress the metastasis of HCC
    tumor  
    IGF1-MEF2D pathway may be a useful target for treatment of cardiac myxoma
    ANIMAL & CELL MODELS
  • photoreceptor and bipolar cell synapse protein levels severely decreased in the Mef2d -/- murine retina