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MEF2C Gene

protein-coding   GIFtS: 68
GCID: GC05M088013

Myocyte Enhancer Factor 2C

  See MEF2C-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myocyte Enhancer Factor 2C1 2
C5DELq14.32 5
DEL5q14.32 5
MADS Box Transcription Enhancer Factor 2, Polypeptide C2
Myocyte-Specific Enhancer Factor 2C2

External Ids:    HGNC: 69961   Entrez Gene: 42082   Ensembl: ENSG000000811897   OMIM: 6006625   UniProtKB: Q064133   

Export aliases for MEF2C gene to outside databases

Previous GC identifers: GC05M087047 GC05M088304 GC05M088052 GC05M088100 GC05M088098 GC05M088051 GC05M083218


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MEF2C Gene:
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)

GeneCards Summary for MEF2C Gene:
MEF2C (myocyte enhancer factor 2C) is a protein-coding gene. Diseases associated with MEF2C include 5q14.3 microdeletion syndrome, and mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MEF2D.

UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413
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. 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. May also be involved in neurogenesis and in the development of cortical
architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than
isoform 1 and isoform 2

Gene Wiki entry for MEF2C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEF2C gene promoter:
         E2F-4   CREB   AP-1   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEF2C promoter sequence
   Search Chromatin IP Primers for MEF2C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEF2C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q14.3   Ensembl cytogenetic band:  5q14.3   HGNC cytogenetic band: 5q14.3

MEF2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEF2C gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M088013:  view genomic region     (about GC identifiers)

Start:
88,013,975 bp from pter      End:
88,199,922 bp from pter
Size:
185,948 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413 (See protein sequence)
Recommended Name: Myocyte-specific enhancer factor 2C  
Size: 473 amino acids; 51221 Da
Subunit: Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are
released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300
in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation.
Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4, HDAC7 AND HDAC9; the interaction WITH HDACs
represses transcriptional activity. Interacts with MYOCD (By similarity)
Developmental stage: Expression is highest during the early stages of postnatal development, at later stages
levels greatly decrease
Secondary accessions: C9JMZ0 D7F7N5 F8W7V7
Alternative splicing: 6 isoforms:  Q06413-1   Q06413-2   Q06413-3   Q06413-4   Q06413-5   Q06413-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MEF2C: NX_Q06413

Explore proteomics data for MEF2C at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required
    for Lys-391 sumoylation and inhibits transcriptional activity1
  • Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and
    transactivation1
  • Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity1
  • Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity.
    Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and
    transcriptional inactivation1
  • Ubiquitination2 at Lys64, Lys68
  • Modification sites at PhosphoSitePlus

  • See MEF2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001124477.1  NP_001180276.1  NP_001180277.1  NP_001180278.1  NP_001180279.1  NP_002388.2  

    ENSEMBL proteins: 
     ENSP00000340874   ENSP00000389610   ENSP00000426665   ENSP00000396219   ENSP00000422390  
     ENSP00000425636   ENSP00000423597   ENSP00000424606   ENSP00000423826   ENSP00000423656  
     ENSP00000424331   ENSP00000427163   ENSP00000426442   ENSP00000427286   ENSP00000426465  
     ENSP00000427309   ENSP00000421925   ENSP00000441153  
    Reactome Protein details: Q06413

    MEF2C Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MEF2C

     
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    antibodies-online proteins for MEF2C (3 products) 

     
    antibodies-online peptides for MEF2C

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MEF2: Myocyte enhancer factors

    2 InterPro protein domains:
     IPR002100 TF_MADSbox
     IPR022102 HJURP_C

    Graphical View of Domain Structure for InterPro Entry Q06413

    ProtoNet protein and cluster: Q06413

    1 Blocks protein domain: IPB002100 Transcription factor

    UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413
    Domain: The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity
    (By similarity)
    Similarity: Belongs to the MEF2 family
    Similarity: Contains 1 MADS-box domain
    Similarity: Contains 1 Mef2-type DNA-binding domain


    Find genes that share domains with MEF2C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MEF2C_HUMAN, Q06413
    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. 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. May also be involved in neurogenesis and in the development of cortical
    architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than
    isoform 1 and isoform 2

         Genatlas biochemistry entry for MEF2C:
    myocyte-specific enhancer binding factor 2C,interacting with members of the MyoD family of transcriptional
    activator,also interacting with TWIST to inhibit myogenesis,negatively regulated by MITR in association with
    HDAC1,also expressed in brain,activated by PRKM7

         Gene Ontology (GO): Selected molecular function terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA8455629
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ISS--
    GO:0000983RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity IDA8455629
    GO:0000987core promoter proximal region sequence-specific DNA binding IEA--
    GO:0001046core promoter sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with MEF2C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MEF2C:
     Decreased nuclei size in G2M 

         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Mef2c):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size/body  hematopoietic system  immune system  limbs/digits/tail  mortality/aging 
     muscle  normal  renal/urinary system  respiratory system  skeleton 

    Find genes that share phenotypes with MEF2C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MEF2C: Mef2ctm1Eno Mef2ctm1.1Jjs

       genOway: Develop your customized and physiologically relevant rodent model for MEF2C

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  DCYAAAAATAGM 

    miRNA
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    miRTarBase miRNAs that target MEF2C:
    hsa-let-7c-5p (MIRT051852), hsa-mir-21-5p (MIRT005737), hsa-mir-92a-3p (MIRT049691), hsa-mir-26b-5p (MIRT029032), hsa-let-7b-5p (MIRT052262), hsa-mir-223-3p (MIRT000128)

    Block miRNA regulation of human, mouse, rat MEF2C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEF2C (see all 145):
    hsa-miR-576-3p hsa-miR-520f hsa-miR-138-2* hsa-miR-298 hsa-miR-3909 hsa-miR-761 hsa-miR-520b hsa-miR-200c*
    SwitchGear 3'UTR luciferase reporter plasmidMEF2C 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MEF2C_HUMAN, Q06413: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ----
    GO:0005634nucleus IDA11744164
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA8455629
    GO:0016607nuclear speck IDA18079734

    Find genes that share ontologies with MEF2C           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MEF2C About   (see all 48)  
    See pathways by source

    SuperPathContained pathways About
    1MAPK targets/ Nuclear events mediated by MAP kinases
    ERK/MAPK targets0.88
    MAP kinase activation in TLR cascade0.61
    Nuclear Events (kinase and transcription factor activation)0.88
    MAP Kinase Signaling0.31
    MAPK targets/ Nuclear events mediated by MAP kinases0.80
    2MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    3Toll Like Receptor 7/8 (TLR7/8) Cascade
    Toll Like Receptor 9 (TLR9) Cascade0.93
    MyD88 dependent cascade initiated on endosome0.69
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation0.93
    MyD88-independent cascade0.69
    Toll Like Receptor 7/8 (TLR7/8) Cascade0.69
    Toll Like Receptor 3 (TLR3) Cascade0.69
    4NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42
    5Signaling by FGFR
    NGF signalling via TRKA from the plasma membrane0.71
    Signalling by NGF0.71


    Find genes that share SuperPaths with MEF2C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for MEF2C
        TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MEF2C (see all 17)
        MAPK Signaling
    G12-G13 in Cellular Signaling
    Intracellular Calcium Signaling
    ERK5 Signaling
    Signaling Involved in Cardiac Hypertrophy

    1 Cell Signaling Technology (CST) Pathway for MEF2C
        MAP Kinase Signaling

    Selected GeneGo (Thomson Reuters) Pathways for MEF2C (see all 6)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Immune response Function of MEF2 in T lymphocytes
    Signal transduction Calcium signaling

    Selected BioSystems Pathways for MEF2C (see all 18)
        MAPK signaling pathway
    Heart Development
    Adipogenesis
    SIDS Susceptibility Pathways
    BDNF signaling pathway


    4 Reactome Pathways for MEF2C
        Circadian Clock
    Transcriptional activation of mitochondrial biogenesis
    ERK/MAPK targets
    CDO in myogenesis


    3 Kegg Pathways  (Kegg details for MEF2C):
        MAPK signaling pathway
    Oxytocin signaling pathway
    Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEF2C: 
              Neurogenesis in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Transcription Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              MAP Kinase (MAPK) Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MEF2C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MEF2C (Q064131, 2, 3 ENSP000003962194) via UniProtKB, MINT, STRING, and/or I2D (see all 177)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYLK2Q9H1R31, 2, 3, ENSP000003651524EBI-2684075,EBI-356910 MINT-8189066 MINT-8189024 I2D: score=2 STRING: ENSP00000365152
    HDAC4P565242, 3, ENSP000002646064MINT-49706 I2D: score=4 STRING: ENSP00000264606
    EP300Q094722, 3, ENSP000002632534MINT-8189037 MINT-8189053 I2D: score=6 STRING: ENSP00000263253
    MAPK7Q131643, ENSP000003110054I2D: score=5 STRING: ENSP00000311005
    NCOA2Q155963, ENSP000003999684I2D: score=5 STRING: ENSP00000399968
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 112):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance ----
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP18079734
    GO:0000165MAPK cascade IMP11160896
    GO:0001568blood vessel development ISS--
    GO:0001649osteoblast differentiation ISS--

    Find genes that share ontologies with MEF2C           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for MEF2C

    7 Novoseek inferred chemical compound relationships for MEF2C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pd 98,059 33.1 3 16356629 (1), 19011954 (1)
    glycogen 21.7 1 15864539 (1)
    serine 11.5 3 8663403 (1), 15340086 (1), 11744164 (1)
    glucose 0 1 15864539 (1)
    threonine 0 1 11744164 (1)
    glutamate 0 1 15888658 (1)
    creatinine 0 2 9988769 (1), 15030381 (1)



    Find genes that share compounds with MEF2C           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MEF2C gene (6 alternative transcripts): 
    NM_001131005.2  NM_001193347.1  NM_001193348.1  NM_001193349.1  NM_001193350.1  NM_002397.4  

    Unigene Cluster for MEF2C:

    Myocyte enhancer factor 2C
    Hs.649965  [show with all ESTs]
    Unigene Representative Sequence: NM_002397
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000340208(uc003kjl.3) ENST00000424173(uc021ybg.1 uc021ybh.1 uc003kjm.3)
    ENST00000514028 ENST00000437473 ENST00000510942 ENST00000506554 ENST00000508569
    ENST00000514015 ENST00000510980 ENST00000515715 ENST00000513252 ENST00000506716
    ENST00000503554 ENST00000507984 ENST00000502983 ENST00000508610 ENST00000502831
    ENST00000503075
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    Additional mRNA sequence: 

    AK307883.1 AK312472.1 AL833268.1 AL833274.1 BC026341.1 FM163484.2 FM180475.1 L08895.1 
    S57212.1 

    24 DOTS entries:

    DT.100060994  DT.100025364  DT.317492  DT.75105494  DT.120817534  DT.40120967  DT.120817364  DT.95275625 
    DT.100693825  DT.120817490  DT.100795568  DT.120817361  DT.120817412  DT.40116758  DT.92056828  DT.92436706 
    DT.97786901  DT.97804379  DT.99929535  DT.99980253  DT.40112129  DT.70102954  DT.95275622  DT.97845077 

    Selected AceView cDNA sequences (see all 325):

    BF513659 BQ434148 W72922 F03687 BQ008384 BM454706 BG388293 AI568249 
    AL118637 AA279708 AI655466 AW191949 BF056002 AW505136 AW272438 BM721478 
    AA459551 BQ215481 BU158885 BQ212661 F37081 BQ231479 AA280997 H88743 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MEF2C    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                                              -                           
    SP2:                                                              -                 -         
    SP3:                                                                                          
    SP4:                                                                                          


    ECgene alternative splicing isoforms for MEF2C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MEF2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTCATCT
    MEF2C Expression
    About this image


    MEF2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 18 entries
             Cardiomyocytes Outflow Tract
             Outflow Tract
             Cardiac progenitor cells (Sca1+)
             Cardiomyocytes-like cells
     
     NULL (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocytes-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Zeugopod Growth Plate
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Pre-myocardial Cells Cardiogenic Mesoderm
    MEF2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEF2C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.649965

    UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413
    Tissue specificity: Expressed in brain and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEF2C: 
              Neurogenesis in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Transcription Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              MAP Kinase (MAPK) Signaling Pathway in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MEF2C gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mef2c1 , 5 myocyte enhancer factor 2C1, 5 91.22(n)1
    93.74(a)1
      13 (43.68 cM)5
    172601  NM_001170537.11  NP_001164008.11 
     835736075 
    chicken
    (Gallus gallus)
    Aves MEF2C1 myocyte enhancer factor 2C 88.41(n)
    93.74(a)
      769007  XM_004949410.1  XP_004949467.1 
    lizard
    (Anolis carolinensis)
    Reptilia MEF2C6
    myocyte enhancer factor 2C
    95(a)
    1 ↔ 1
    2(21681539-21795554)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mef2c1 MADS box transcription enhancer factor 2, polypeptide more 83.95(n)
    90.47(a)
      100127198  NM_001112916.1  NP_001106387.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059188.12   -- 75.89(n)   393660  BC059188.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mef21 Myocyte enhancer factor 2 52.48(n)
    48.98(a)
      36032  NM_057672.4  NP_477020.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMP16
    RLM16
    Putative transcription factor involved in regulati...
    MADS-box transcription factor, component of the pr...
    19(a)
    16(a)
    many ↔ many
    many ↔ many
    II(593506-594864) YBR182C
    XVI(379120-381150) YPL089C


    ENSEMBL Gene Tree for MEF2C (if available)
    TreeFam Gene Tree for MEF2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEF2C gene
    MEF2D2  MEF2B2  MEF2A2  MEF2BNB-MEF2B2  
    6 SIMAP similar genes for MEF2C using alignment to 13 protein entries:     MEF2C_HUMAN (see all proteins):
    MEF2A    MEF2D    MEF2D/DAZAP1 fusion    MEF2D variant protein    MEF2B    MEF2BNB-MEF2B

    Find genes that share paralogs with MEF2C           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MEF2C (see all 2932)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353980491,2
    C--83262675(+) TTTTT-/TACTAA 6 -- int10--------
    rs58694401,2
    C--83264669(+) GGCCG-/AGGC  
            
    AGGCC
    6 -- int10--------
    rs1473204811,2
    C--83279697(+) AGGTT-/TGTGTGT 6 -- int10--------
    rs781077631,2
    F--83339459(+) TCTCTC/ATCTCT 4 -- int12Minor allele frequency- A:0.50CSA 4
    rs16450801,2
    C,A--83339463(-) atagaG/Tagaga 4 -- int1 trp30--------
    rs287163591,2
    C--83339463(+) TCTCTC/ATCTAT 4 -- int1 trp31Minor allele frequency- A:0.50CSA 2
    rs1504782971,2
    C--83339463(+) CTCTC-/TATCTA/TCT
    ATCTA
    /TCTCTA
    TCTAT
    12 -- int1 cds10--------
    rs106948031,2
    C--83339466(+) TCTCT-/CTAT  
     CT
    /CTCT
    ATCTA
    8 -- int1 cds10--------
    rs114172171,2
    C--83343321(+) TTTTT-/TAATTC 4 -- int1 trp30--------
    rs2018494911,2
    C--83343335(-) AGAATA/TAAAAA 4 -- int10--------

    HapMap Linkage Disequilibrium report for MEF2C (88013975 - 88199922 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MEF2C (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1006875CNV Deletion20482838
    esv4948CNV Deletion18987735
    esv1049510CNV Deletion17803354
    esv4987CNV Deletion18987735
    esv2730447CNV Deletion23290073
    esv2657453CNV Deletion23128226
    esv1739252CNV Deletion17803354
    esv993574CNV Deletion20482838
    esv2730446CNV Deletion23290073
    nsv329625CNV Loss16902084

    Human Gene Mutation Database (HGMD): MEF2C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEF2C
    DNA2.0 Custom Variant and Variant Library Synthesis for MEF2C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600662   
    OMIM disorders: 613443  
    UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413
  • Mental retardation, autosomal dominant 20 (MRD20) [MIM:613443]: A disorder characterized by severe mental
    retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include
    high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted
    palpebral fissures and prominent eyebrows. Some patients have seizures. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 2 diseases for MEF2C:    
    About MalaCards
    5q14.3 microdeletion syndrome    mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

    1 disease from the University of Copenhagen DISEASES database for MEF2C:
    Ventricular septal defect

    Find genes that share disorders with MEF2C           About GenesLikeMe

    4 Novoseek inferred disease relationships for MEF2C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 33.7 3 18005871 (1), 20181743 (1)
    tumors 5.29 3 18758483 (1), 18252802 (1), 11741835 (1)
    ischemia 0 1 8848137 (1)
    necrosis 0 1 11741835 (1)

    Genetic Association Database (GAD): MEF2C
    Human Genome Epidemiology (HuGE) Navigator: MEF2C (15 documents)

    Export disorders for MEF2C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MEF2C gene, integrated from 10 sources (see all 218):
    (articles sorted by number of sources associating them with MEF2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors. (PubMed id 8455629)1, 2, 3 McDermott J.C.... Nadal-Ginard B. (Mol. Cell. Biol. 1993)
    2. Phosphorylation-facilitated sumoylation of MEF2C negatively regulates its transcriptional activity. (PubMed id 16478538)1, 2, 9 Kang J.... Yu H. (BMC Biochem. 2006)
    3. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. (PubMed id 20513142)1, 4, 9 Zweier M....Rauch A. (Hum. Mutat. 2010)
    4. Phosphorylation and alternative pre-mRNA splicing converge to regulate myocyte enhancer factor 2C activity. (PubMed id 15340086)1, 2, 9 Zhu B. and Gulick T. (Mol. Cell. Biol. 2004)
    5. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. (PubMed id 19592390)1, 2, 9 Le Meur N.... Bonneau D. (J. Med. Genet. 2010)
    6. Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes. (PubMed id 9798649)1, 2, 9 Swanson B.J.... Lyons G.E. (Mol. Immunol. 1998)
    7. Myocyte enhancer factor 2 acetylation by p300 enhances its DNA binding activity, transcriptional activity, and myogenic differentiation. (PubMed id 15831463)1, 2, 9 Ma K.... Wu Z. (Mol. Cell. Biol. 2005)
    8. MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. (PubMed id 7679508)1, 2, 9 Leifer D.... Lipton S.A. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    9. Alternative pre-mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain. (PubMed id 15834131)1, 2, 9 Zhu B.... Gulick T. (J. Biol. Chem. 2005)
    10. HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. (PubMed id 10523670)1, 2, 9 Wang A.H.... Yang X.-J. (Mol. Cell. Biol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4208 HGNC: 6996 AceView: MEF2C.1 Ensembl:ENSG00000081189 euGenes: HUgn4208
    ECgene: MEF2C Kegg: 4208 H-InvDB: MEF2C

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MEF2C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MEF2C gene:
    Search GeneIP for patents involving MEF2C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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