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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MEF2C Gene

protein-coding   GIFtS: 67
GCID: GC05M088051

myocyte enhancer factor 2C
 Explore 21 diseases affiliated with
MEF2C via
MalaCards
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 Human Malady Compendium 
Biological research products
for MEF2C    

Aliases
for MEF2C gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myocyte Enhancer Factor 2C1 2
DEL5q14.32 5
C5DELq14.32
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 GC05M083218


Summaries
for MEF2C gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences 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 plasmid: MEF2C promoter sequence
   Search SABiosciences Chromatin IP Primers for MEF2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MEF2C


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

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

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 GC05M088051:  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

Proteins
for MEF2C gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q06413

    • MEF2C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: MEF2C
    OriGene Protein Over-expression Lysate (see all 2): MEF2C
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    Novus Biologicals MEF2C Protein
    Novus Biologicals MEF2C Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MEF2C

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA8455629


    MEF2C for ontologies           About GeneDecksing



    MEF2C Antibody Products: 
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    Uscn ELISAs and CLIAs for MEF2C

    Protein Domains /
    Families
    for MEF2C gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MEF2C for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002100 TF_MADSbox
     IPR022102 HJURP_C

    Graphical View of Domain Structure for InterPro Entry Q06413

    ProtoNet protein and cluster: Q06413

    1 Blocks protein family: 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


    Function
    for MEF2C gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		miRTarBase miRNAs that target MEF2C:
    hsa-mir-21 (MIRT005737), hsa-mir-223 (MIRT000128)

    OriGene 3'-UTR Clone (see all 2): MEF2C
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MEF2C
    8/145 QIAGEN miScript miRNA 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 plasmid: MEF2C 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MEF2C (see all 4)
    OriGene shRNA RFP: MEF2C
    OriGene siRNA: MEF2C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MEF2C

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MEF2C

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MEF2C (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MEF2C (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 6): MEF2C (NM_002397)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEF2C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEF2C 

    Cell Line
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    Search LifeMap BioReagents cell lines for MEF2C

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2C

    Gene Ontology (GO): 5/21 molecular function terms (GO ID links to tree view) (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 ----
    GO:0001046core promoter sequence-specific DNA binding ----


    MEF2C for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MEF2C: Mef2ctm1Eno Mef2ctm1.1Jjs
         15 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Mef2c):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size  hematopoietic system  immune system  limbs/digits/tail  mortality/aging 
     muscle  normal  renal/urinary system  respiratory system  skeleton 

    MEF2C for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MEF2C gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/46 super-pathways (see all 46) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TRAF6 Mediated Induction of proinflammatory cytokines
    8/19 pathways (see all 19)
    		TRAF6 Mediated Induction of proinflammatory cytokines1.00
    		Toll Like Receptor TLR1:TLR2 Cascade0.78
    		MAP kinase activation in TLR cascade0.88
    		Toll Like Receptor 2 (TLR2) Cascade0.78
    		Toll Like Receptor 5 (TLR5) Cascade0.86
    		MyD88:Mal cascade initiated on plasma membrane0.78
    		Toll Like Receptor 10 (TLR10) Cascade0.86
    		TRIF-mediated TLR3/TLR4 signaling 0.73
    2ERK/MAPK targets
    		ERK/MAPK targets1.00
    		MAPK targets/ Nuclear events mediated by MAP kinases0.70
    		Nuclear Events (kinase and transcription factor activation)0.88
    3NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		IGF1R Signaling0.37
    		Signaling Involved in Cardiac Hypertrophy0.42
    4Signal transduction_IP3 signaling
    		Signal transduction_IP3 signaling1.00
    		Signal transduction IP3 signaling0.92
    5Immune response_Function of MEF2 in T lymphocytes
    		Immune response_Function of MEF2 in T lymphocytes1.00
    		Immune response Function of MEF2 in T lymphocytes0.90

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/7 EMD Millipore Pathways for MEF2C (see all 7)
        G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Signal transduction Calcium signaling
    Transcription factors in neurogenesis
    Immune response Function of MEF2 in T lymphocytes
    Signal transduction IP3 signaling

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

    5/17 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/16 BioSystems Pathways for MEF2C (see all 16) 
        SIDS Susceptibility Pathways
    Adipogenesis
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    MAPK signaling pathway
    Heart Development

    5/30        Reactome Pathways for MEF2C (see all 30)
        Developmental Biology
    Toll Like Receptor 2 (TLR2) Cascade
    Toll Like Receptor TLR6:TLR2 Cascade
    Toll-Like Receptors Cascades
    TRAF6 Mediated Induction of proinflammatory cytokines


    1         Kegg Pathway  (Kegg details for MEF2C):
        MAPK signaling pathway


    MEF2C for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MEF2C

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

    5/104 Interacting proteins for MEF2C (Q064132, 3 ENSP000003962194) via UniProtKB, MINT, STRING, and/or I2D (see all 104)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYLK2Q9H1R32, 3, ENSP000003651524MINT-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): 5/104 biological process terms (GO ID links to tree view) (see all 104):    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--


    MEF2C for ontologies           About GeneDecksing



    Drugs & Compounds
    for MEF2C gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MEF2C for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MEF2C
    7 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MEF2C 

    Transcripts
    for MEF2C gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/25 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MEF2C
    8/145 QIAGEN miScript miRNA 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 plasmid: MEF2C 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MEF2C (see all 4)
    OriGene shRNA RFP: MEF2C
    OriGene siRNA: MEF2C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MEF2C
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MEF2C (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MEF2C (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 6): MEF2C (NM_002397)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEF2C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEF2C 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MEF2C
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MEF2C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MEF2C

    Additional cDNA sequence: 

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

    23 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.70102954  DT.95275622  DT.97845077 

    24/325 AceView cDNA sequences (see all 325):

    BF513659 BQ434148 AI568249 BG388293 AA279708 AI655466 AL118637 AW191949 
    AW505136 AW272438 BF056002 BU158885 BQ212661 BM721478 AA459551 BQ215481 
    F37081 BQ231479 AA280997 BM478566 BM676075 H88743 W52029 AU253863 

    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

    Expression
    for MEF2C gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MEF2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATGTCATCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MEF2C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytes Progenitor CellsMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    Lateral Plate MesodermCardiogenic MesodermPre-myocardial CellsMyocardium
    Primitive StreakPosterior Primitive StreakHemangioblastsBlood, Endothelium
    BoneAutopod Long BoneBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Cardiomyocytes-like cells (Promotion of cardiom...)
    Cardiomyocyte-like cells (Spontaneous differen...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)

    See MEF2C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MEF2C

    SOURCE GeneReport for Unigene cluster: Hs.649965

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

        SABiosciences Expression via Pathway-Focused 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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    In Situ
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    Orthologs
    for MEF2C gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MEF2C gene from 7/21 species (see all 21)    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 
     835040345 
    chicken
    (Gallus gallus)    		 Aves MEF2C1 myocyte enhancer factor 2C 91.43(n)
    98.92(a)    		   769007  XM_001231661.2  XP_001231662.2 
    lizard
    (Anolis carolinensis)    		 Reptilia MEF2C6
    		 --
    		 89(a)
    		 1 ↔ 1
    		 2(21681539-21772076)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC059188.12   -- 75.89(n)   393660  BC059188.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mef26
    		 Myocyte enhancer factor 2
    		 32(a)
    		 1 → many
    		 2R(5801001-5846350)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AGL336
    AGL146
    (see all 46)    		 agamous-like MADS-box protein AGL14
    (see all 46)    		 27(a)
    22(a)
    (see all 46)    		 many ↔ many
    many ↔ many
    (see all 46)    		 2(11205389-11206287)
    4(7143115-7147391)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 42)    		 transcription factor, putative, expressed
    (see all 42)    		 9(a)
    5(a)
    (see all 42)    		 many ↔ many
    many ↔ many
    (see all 42)    		 11(25942807-25946855)
    3(1268854-1270781)


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

    Paralogs
    for MEF2C gene

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

    MEF2C for paralogs           About GeneDecksing



    Genomic Variants
    for MEF2C gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2467 NCBI SNPs in MEF2C are shown (see all 2467)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs731777181,2
    		C,--83218804(+) GAACCG/ATCATC 6 -- ds50012Minor allele frequency- A:0.12WA 120
    rs38144251,2
    		C,F,H,--83220133(+) CAATAT/CACAGG 6 -- ut3111Minor allele frequency- C:0.02NA NS EA 1014
    rs727718691,2
    		--83220210(+) TAAAAC/TAGGAT 6 -- ut310--------
    rs768122571,2
    		F,--83220985(+) GTGTAT/AATTTT 6 -- ut311Minor allele frequency- A:0.03WA 118
    rs175505681,2
    		C,F,H,--83220999(+) GGATGT/GTTTTG 6 -- ut316Minor allele frequency- G:0.02NA NS 664
    rs178567631,2
    		H--83223366(+) CCATCC/ATTCAG 12 /G /* stg1 ese34Minor allele frequency- A:0.00NS EA 420
    rs6071591,2
    		C,F,H--83223371(+) CTTCAG/AAAAGT 12 /S /F mis1 ese39Minor allele frequency- A:0.01MN NS EA NA 1140
    rs343810041,2
    		F--83223571(+) GTGGTA/CCGGTC 12 R syn11Minor allele frequency- C:0.41NA 66
    rs727718701,2
    		C,--83224237(+) GCTGCA/GCAATA 6 -- int10--------
    rs747460411,2
    		--83225051(+) GGGGCC/TGGCTT 6 -- int10--------

    HapMap Linkage Disequilibrium report for MEF2C (88013975 - 88199922 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for MEF2C
         1 CNV: 93139
         9 Indels: 42340 62400 28026 40782 28027 42318 62399 40783 12713
    Human Gene Mutation Database (HGMD): MEF2C

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MEF2C gene

    (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
    MEF2C for disorders           About GeneDecksing

    OMIM gene information: 600662   
    OMIM disorders: 613443  
    UniProtKB/Swiss-Prot: MEF2C_HUMAN, Q06413
  • Defects in MEF2C are the cause of mental retardation-stereotypic movements-epilepsy and/or cerebral
    • malformations (MRSME) [MIM:613443]. It is 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

    20/21 diseases for MEF2C (see all 21):    About MalaCards
    mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations    cerebritis    infectious mononucleosis    muscle hypertrophy
    ductal carcinoma in situ    hypertrophic cardiomyopathy    acute lymphoblastic leukemia    sporadic breast cancer
    dilated cardiomyopathy    lymphoblastic leukemia    cardiomyopathy    hernia
    hypotonia    breast cancer    ischemia    hepatocellular carcinoma
    seizures    leukemia    carcinoma    cholesterol

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: MEF2C (15 documents)

    Export disorders for MEF2C gene to outside databases

    Publications
    for MEF2C gene

    (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

    PubMed articles for MEF2C gene, integrated from 9 sources (see all 197):
    (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. (1993)
    2. Phosphorylation-facilitated sumoylation of MEF2C negatively regulates its transcriptional activity. (PubMed id 16478538)1, 2, 9 Kang J.... Yu H. (2006)
    3. 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. (2004)
    4. MEF2C haploinsufficiency caused by either microdeleti on of the 5q14.3 region or mutation is responsible for severe mental retardatio n with stereotypic movements, epilepsy and/or cerebral malformations. (PubMed id 19592390)1, 2, 9 Le Meur N....Bonneau D. (2010)
    5. 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. (1998)
    6. 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. (2005)
    7. 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. (1993)
    8. 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. (2005)
    9. 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. (1999)
    10. Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation. (PubMed id 9069290)1, 2, 9 Han J....Ulevitch R.J. (1997)

    External Searches for MEF2C gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MEF2C gene

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

    Other Databases showing MEF2C gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MEF2C gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MEF2C Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MEF2C gene

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



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