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MEF2A Gene

protein-coding   GIFtS: 69
GCID: GC15P100107

Myocyte Enhancer Factor 2A

  See MEF2A-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 2A1 2     MADS Box Transcription Enhancer Factor 2, Polypeptide A (Myocyte Enhancer
Factor 2A)2
Serum Response Factor-Like Protein 12 3     mef22
ADCAD12 5     Myocyte-Specific Enhancer Factor 2A2
RSRFC42     MEF23
RSRFC92     

External Ids:    HGNC: 69931   Entrez Gene: 42052   Ensembl: ENSG000000683057   OMIM: 6006605   UniProtKB: Q020783   

Export aliases for MEF2A gene to outside databases

Previous GC identifers: GC15P096823 GC15P093977 GC15P097698 GC15P097841 GC15P097874 GC15P097923 GC15P076235


(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 MEF2A Gene:
The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth
factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is
involved in several cellular processes, including muscle development, neuronal differentiation, cell growth
control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1
with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for
this gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for MEF2A Gene:
MEF2A (myocyte enhancer factor 2A) is a protein-coding gene. Diseases associated with MEF2A include coronary artery disease, autosomal dominant, 1, and artery disease. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MEF2D.

UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078
Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced
genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal
differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38
MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons,
phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation.
Associates with chromatin to the ZNF16 promoter

Gene Wiki entry for MEF2A (Myocyte-specific enhancer factor 2A) 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEF2A gene promoter:
         USF1   ATF-2   HTF   USF2   AP-4   USF-1:USF-2   E47   CRE-BP1   USF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEF2A promoter sequence
   Search Chromatin IP Primers for MEF2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEF2A


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

Entrez Gene cytogenetic band: 15q26   Ensembl cytogenetic band:  15q26.3   HGNC cytogenetic band: 15q26

MEF2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEF2A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P100107:  view genomic region     (about GC identifiers)

Start:
100,017,370 bp from pter      End:
100,256,671 bp from pter
Size:
239,302 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078 (See protein sequence)
Recommended Name: Myocyte-specific enhancer factor 2A  
Size: 507 amino acids; 54811 Da
Subunit: Binds DNA as a homo- or heterodimer. Dimerizes with MEF2D. Interacts with HDAC7 (By similarity).
Interacts with PIAS1; the interaction enhances sumoylation. Interacts with HDAC4, HDAC9 and SLC2A4RG. Interacts
(via the N-terminal) with MAPK7; the interaction results in the phosphorylation and transcriptional activity of
MEF2A
Sequence caution: Sequence=AAH53871.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAD92222.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6 PDB 3D structures from and Proteopedia for MEF2A:
1C7U (3D)        1EGW (3D)        1LEW (3D)        3KOV (3D)        3MU6 (3D)        3P57 (3D)    
Secondary accessions: B4DFQ7 F6XG23 O43814 Q14223 Q14224 Q59GX4 Q7Z6C9 Q96D14
Alternative splicing: 8 isoforms:  Q02078-1   Q02078-2   Q02078-3   Q02078-4   Q02078-5   Q02078-6   Q02078-7   Q02078-8   
(No experimental confirmation available. Contains a phosphoserine at position 30)

Explore the universe of human proteins at neXtProt for MEF2A: NX_Q02078

Explore proteomics data for MEF2A at MOPED

Post-translational modifications: 

  • Constitutive phosphorylation on Ser-408 promotes Lys-403 sumoylation thus preventing acetylation at this site.
    Dephosphorylation on Ser-408 by PPP3CA upon neuron depolarization promotes a switch from sumoylation to
    acetylation on residue Lys-403 leading to inhibition of dendrite claw differentiation. Phosphorylation on Thr-312
    and Thr-319 are the main sites involved in p38 MAPK signaling and activate transcription. Phosphorylated on these
    sites by MAPK14/p38alpha and MAPK11/p38beta, but not by MAPK13/p38delta nor by MAPK12/p38gamma. Phosphorylation
    on Ser-408 by CDK5 induced by neurotoxicity inhibits MEF2A transcriptional activation leading to apoptosis of
    cortical neurons. Phosphorylation on Thr-312, Thr-319 and Ser-355 can be induced by EGF1
  • Sumoylation on Lys-403 is enhanced by PIAS1 and represses transcriptional activity. Phosphorylation on Ser-408 is
    required for sumoylation. Has no effect on nuclear location nor on DNA binding. Sumoylated with SUMO1 and, to a
    lesser extent with SUMO2 and SUMO3. PIASx facilitates sumoylation in postsynaptic dendrites in the cerebellar
    cortex and promotes their morphogenesis (By similarity)1
  • Acetylation on Lys-403 activates transcriptional activity. Acetylated by p300 on several sites in diffentiating
    myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). Hyperacetylation by
    p300 leads to enhanced cardiac myocyte growth and heart failure1
  • Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 3 and 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 MEF2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001124398.1  NP_001124399.1  NP_001124400.1  NP_001165365.1  NP_005578.2  

    ENSEMBL proteins: 
     ENSP00000453478   ENSP00000346389   ENSP00000454120   ENSP00000453441   ENSP00000454023  
     ENSP00000399460   ENSP00000453095   ENSP00000452989   ENSP00000404110   ENSP00000337202  
    Reactome Protein details: Q02078

    MEF2A Human Recombinant Protein Products:

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    MEF2A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MEF2A
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    Cloud-Clone Corp. ELISAs for MEF2A
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    Search eBioscience for ELISAs for MEF2A 


    (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 Q02078

    ProtoNet protein and cluster: Q02078

    1 Blocks protein domain: IPB002100 Transcription factor

    UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078
    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 MEF2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: MEF2A_HUMAN, Q02078
    Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
    numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced
    genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal
    differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38
    MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons,
    phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation.
    Associates with chromatin to the ZNF16 promoter

         Genatlas biochemistry entry for MEF2A:
    myocyte-specific enhancer binding factor 2A,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 muscle cells

         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 IDA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA10748098
    GO:0000987core promoter proximal region sequence-specific DNA binding ----
    GO:0001046core promoter sequence-specific DNA binding ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
         
    Find genes that share ontologies with MEF2A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MEF2A:
     Elongated cells 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mef2a):
     cardiovascular system  mortality/aging  muscle  respiratory system 

    Find genes that share phenotypes with MEF2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mef2atm1Eno for MEF2A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEF2A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MEF2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEF2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEF2A

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for MEF2A (see all 518):
    ABCB4,  ABTB2,  ACTR10,  ACTR3,  ADAM22,  ADAM32,  ADAM7,  ADAMDEC1,  ADH4,  AGAP1

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target MEF2A:
    hsa-mir-132-3p (MIRT021772), hsa-mir-155-5p (MIRT020561), hsa-mir-335-5p (MIRT016730), hsa-mir-1 (MIRT000391), hsa-mir-30a-3p (MIRT049911), hsa-mir-21-5p (MIRT030700)

    Block miRNA regulation of human, mouse, rat MEF2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEF2A (see all 98):
    hsa-miR-124* hsa-miR-376b hsa-miR-578 hsa-miR-4267 hsa-miR-502-3p hsa-miR-3148 hsa-miR-1537 hsa-miR-1206
    SwitchGear 3'UTR luciferase reporter plasmidMEF2A 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for MEF2A 

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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
    MEF2A_HUMAN, Q02078: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2

    Gene Ontology (GO): 5 cellular component terms:    About this table

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

    Find genes that share ontologies with MEF2A           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 MEF2A About   (see all 30)  
    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
    2Toll 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
    3NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42
    4Signaling by FGFR
    NGF signalling via TRKA from the plasma membrane0.71
    Signalling by NGF0.71
    5CREB Pathway
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50


    Find genes that share SuperPaths with MEF2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MEF2A (see all 15)
        MAPK Signaling
    IGF1R Signaling
    G12-G13 in Cellular Signaling
    Intracellular Calcium Signaling
    CRHR Pathway

    2 Cell Signaling Technology (CST) Pathways for MEF2A
        MAP Kinase Signaling
    Neuroscience

    5 GeneGo (Thomson Reuters) Pathways for MEF2A
        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
    Immune response Function of MEF2 in T lymphocytes
    Signal transduction Calcium signaling
    Signal transduction IP3 signaling

    Selected BioSystems Pathways for MEF2A (see all 7)
        Adipogenesis
    BDNF signaling pathway
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    TGF-beta Receptor Signaling Pathway
    Energy Metabolism


    2 Reactome Pathways for MEF2A
        ERK/MAPK targets
    CDO in myogenesis


        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEF2A: 
              Transcription Factors in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MEF2A

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

    Selected Interacting proteins for MEF2A (Q020782, 3 ENSP000003463894) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC4P565242, 3, ENSP000002646064MINT-49704 MINT-49703 I2D: score=5 STRING: ENSP00000264606
    SUMO1P631652, 3, ENSP000003760764MINT-3380349 I2D: score=3 STRING: ENSP00000376076
    SMAD2Q157963, ENSP000002621604I2D: score=4 STRING: ENSP00000262160
    ASCL1P505533, ENSP000002667444I2D: score=3 STRING: ENSP00000266744
    MAPK7Q131643, ENSP000003110054I2D: score=3 STRING: ENSP00000311005
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 92):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance ISS--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA16484498
    GO:0000165MAPK cascade IDA9858528
    GO:0001568blood vessel development ----
    GO:0001649osteoblast differentiation ----

    Find genes that share ontologies with MEF2A           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for MEF2A

    Selected Novoseek inferred chemical compound relationships for MEF2A gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aicar 59.8 7 16105857 (3), 14960415 (2), 20173759 (1)
    calcium 32.3 34 10521511 (3), 10825153 (3), 10531067 (2), 11796223 (2) (see all 19)
    threonine 27.6 5 9418854 (2), 10521511 (1), 10373581 (1)
    serine 21 6 15340086 (1), 10521511 (1), 11390982 (1), 10373581 (1) (see all 5)
    chloramphenicol 17.1 2 8798771 (1)
    orthophosphate 11.9 2 10373581 (1)
    creatinine 11.2 7 8798771 (2), 1633435 (1), 11713257 (1), 8993831 (1)
    glycogen 7.13 3 15864539 (1), 15030381 (1)
    phosphatidylinositol 1.97 3 14960415 (2)
    lysine 0 5 16166628 (2), 16563226 (1), 17158926 (1)



    Find genes that share compounds with MEF2A           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 MEF2A gene (5 alternative transcripts): 
    NM_001130926.1  NM_001130927.1  NM_001130928.1  NM_001171894.1  NM_005587.2  

    Unigene Cluster for MEF2A:

    Myocyte enhancer factor 2A
    Hs.268675  [show with all ESTs]
    Unigene Representative Sequence: NM_001171894
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560493 ENST00000354410(uc002bvf.3 uc010urw.2) ENST00000558856
    ENST00000558812 ENST00000559036 ENST00000558983 ENST00000557785 ENST00000558049
    ENST00000449277 ENST00000557942(uc002bvi.3 uc010bot.3) ENST00000559903
    ENST00000561125 ENST00000453228 ENST00000338042(uc002bvg.3 uc010urv.2 uc010bos.3 uc002bve.3)

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    Additional mRNA sequence: 

    AB208985.1 AK291835.1 AK294207.1 AL831995.1 BC013437.2 BC053871.2 X63381.1 X68503.1 
    X68504.1 X68505.1 Y16312.1 

    18 DOTS entries:

    DT.100785075  DT.218590  DT.95371524  DT.121060321  DT.100785077  DT.121060449  DT.40131957  DT.121060456 
    DT.95289285  DT.92426961  DT.102833300  DT.121060350  DT.121060457  DT.306589  DT.91810773  DT.92031821 
    DT.95307081  DT.75181794 

    Selected AceView cDNA sequences (see all 277):

    CA447971 AA142933 AI862348 AA716164 AI990074 AI015157 AA047264 C04841 
    AI129893 AA824384 W24733 AI470909 AI634307 BE349601 BM353827 BM353555 
    BM987306 AA767311 BX088956 AI358566 BQ008796 CA423479 CA423331 AI677770 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MEF2A (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^
    SP1:                                            -           -                 -                                         -     -           -     -               
    SP2:                                            -           -     -     -     -                                         -     -     -                           
    SP3:                                                        -     -     -     -                                         -     -           -     -               
    SP4:                                                                                                  -     -     -     -     -           -     -               
    SP5:                                            -           -     -     -     -                                         -     -                                 

    ExUns: 14 ^ 15 ^ 16 ^ 17
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for MEF2A

    (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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    MEF2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAACCGTT
    MEF2A Expression
    About this image


    MEF2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Cardiomyocytes Left Ventricle
             Cardiomyocyte-like cells
             Heart Muscle   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone marrow-derived mesenchymal stem cells
     
     Mesenchymal Stem Cells
             Bone marrow-derived mesenchymal stem cells
     
     Mesoderm (Gastrulation Derivatives)
             Cardiac Progenitor Cells Mesoderm
    MEF2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEF2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268675

    UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078
    Tissue specificity: Isoform MEF2 and isoform MEFA are expressed only in skeletal and cardiac muscle and in the
    brain. Isoform RSRFC4 and isoform RSRFC9 are expressed in all tissues examined

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEF2A: 
              Transcription Factors in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2A

    (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 MEF2A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mef2a1 , 5 myocyte enhancer factor 2A1, 5 91.09(n)1
    96.33(a)1
      7 (36.72 cM)5
    172581  NM_001033713.11  NP_001028885.11 
     672311635 
    chicken
    (Gallus gallus)
    Aves MEF2A1 myocyte enhancer factor 2A 82.45(n)
    90(a)
      395670  NM_204864.1  NP_990195.1 
    lizard
    (Anolis carolinensis)
    Reptilia MEF2A6
    myocyte enhancer factor 2A
    83(a)
    1 ↔ 1
    GL343383.1(428998-495440)
    African clawed frog
    (Xenopus laevis)
    Amphibia mef2a-prov2 myocyte enhancer factor 2a 78.84(n)    Z19123.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mef2a2 myocyte enhancer factor 2a 77.35(n)   30564  BC044337.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mef23 mesoderm development transcription
    factor
    42(a)     --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMP1(YBR182C)4 Putative transcription factor involved in regulating more   --   2(594864-593506) 852480  NP_009741.1 


    ENSEMBL Gene Tree for MEF2A (if available)
    TreeFam Gene Tree for MEF2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEF2A gene
    MEF2D2  MEF2B2  MEF2C2  MEF2BNB-MEF2B2  
    6 SIMAP similar genes for MEF2A using alignment to 6 protein entries:     MEF2A_HUMAN (see all proteins):
    MEF2C    MEF2D    MEF2B    MEF2D variant protein    DAZAP1/MEF2D fusion    MEF2D/DAZAP1 fusion

    Find genes that share paralogs with MEF2A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MEF2A
    PGOHUM00000259505


    (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)
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    Selected SNPs for MEF2A (see all 3004)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219185301,2,,4
    C,Fpathogenic179956653(+) TGGTAA/GTCTTG 10 N S mis11Minor allele frequency- G:0.00EU 579
    rs1219185291,2,,4
    Cpathogenic179956701(+) CCCCCC/TTTCAA 10 P L mis11Minor allele frequency- T:0.00EU 569
    rs1219185311,2
    Cpathogenic179956713(+) CAAGGA/GCATGA 10 D G mis10--------
    rs721482521,2
    C--76242395(+) AGGCA-/AGA   
      G
    /GAGC
    GAGGC
    4 -- int10--------
    rs2004446761,2
    --76242396(+) GGCAG-/AGAT  
            
    AGGCC
    4 -- int10--------
    rs1487025161,2
    C--76247269(+) GTGCT-/GCGGAA
    TACCAGTGA
    GCAAG
    4 -- cds10--------
    rs25814621,2
    C--76272587(-) CCCCCA/CCACAC 4 -- int14Minor allele frequency- C:0.25WA CSA EA 241
    rs2017854291,2
    C--76373722(+) TTTTTA/TAAGGA 5 -- int10--------
    rs1834509131,2
    --79830433(+) TGGAGC/TAATAA 4 -- us2k10--------
    rs1869309361,2
    --79830456(+) CTTTTA/GGAACA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for MEF2A (100017370 - 100256671 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MEF2A (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2500079CNV Deletion19546169
    nsv513438CNV Insertion21212237
    esv269842CNV Insertion20981092
    nsv904559CNV Loss21882294
    nsv904560CNV Loss21882294
    nsv904563CNV Loss21882294
    nsv904562CNV Loss21882294
    nsv904561CNV Gain21882294
    nsv428313CNV Gain18775914
    nsv904558CNV Gain21882294

    Human Gene Mutation Database (HGMD): MEF2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEF2A
    DNA2.0 Custom Variant and Variant Library Synthesis for MEF2A

    (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.)
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    OMIM gene information: 600660   
    OMIM disorders: 608320  
    UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078
  • Coronary artery disease, autosomal dominant, 1 (ADCAD1) [MIM:608320]: A common heart disease
    characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart.
    Its most important complication is acute myocardial infarction. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 5 diseases for MEF2A:    
    About MalaCards
    coronary artery disease, autosomal dominant, 1    artery disease    idiopathic juvenile osteoporosis    coronary artery disease
    myocardial infarction


    Find genes that share disorders with MEF2A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MEF2A gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 33.5 3 14749499 (1), 17158926 (1), 8576950 (1)
    hypertrophy 30.7 3 18697823 (1), 10842305 (1), 19424677 (1)
    coronary artery disease 27 24 20031581 (4), 15841183 (3), 16951497 (3), 15861005 (2) (see all 13)
    dilated cardiomyopathy 7.33 2 9076715 (1), 8521556 (1)
    carcinoma embryonal 6.39 2 8900141 (1), 7646512 (1)
    myocardial infarction 4.92 12 16195615 (3), 20031581 (2), 15861005 (1), 17579569 (1) (see all 9)
    inflammation 4.29 4 15811259 (1), 17282792 (1), 19341462 (1)
    vascular diseases 3.02 1 14645853 (1)
    tumors 0.854 3 16563226 (1), 16943719 (1), 15988006 (1)
    heart failure 0.772 6 16952980 (2), 20031589 (2), 16407236 (1)

    Genetic Association Database (GAD): MEF2A
    Human Genome Epidemiology (HuGE) Navigator: MEF2A (25 documents)

    Export disorders for MEF2A 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)
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    PubMed articles for MEF2A gene, integrated from 10 sources (see all 383):
    (articles sorted by number of sources associating them with MEF2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcription factor MEF2A mutations in patients with coronary artery disease. (PubMed id 15496429)1, 2, 4, 9 Bhagavatula M.R.K.... Wang Q. (Hum. Mol. Genet. 2004)
    2. Human myocyte-specific enhancer factor 2 comprises a group of tissue- restricted MADS box transcription factors. (PubMed id 1516833)1, 2, 3, 9 Yu Y.-T....Nadal-Ginard B. (Genes Dev. 1992)
    3. Lack of association between the MEF2A gene and myocardial infarction. (PubMed id 18086930)1, 2, 4, 9 Lieb W....Erdmann J. (Circulation 2008)
    4. The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction. (PubMed id 15958500)1, 2, 4, 9 Gonzalez P.... Coto E. (J. Med. Genet. 2006)
    5. Regulation of the MEF2 family of transcription factors by p38. (PubMed id 9858528)1, 2, 9 Zhao M.... Han J.-D. (Mol. Cell. Biol. 1999)
    6. Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A. (PubMed id 14630949)1, 2, 9 Knight J.B.... Olson A.L. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    7. Dominant-interfering forms of MEF2 generated by caspase cleavage contribute to NMDA-induced neuronal apoptosis. (PubMed id 11904443)1, 2, 9 Okamoto S.... Lipton S.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease. (PubMed id 20031581)1, 4, 9 Guella I....Duga S. (Circ Cardiovasc Genet 2009)
    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. Regulatory polymorphism in transcription factor KLF5 at the MEF2 element alters the response to angiotensin II and is associated with human hypertension. (PubMed id 20086047)1, 4, 9 Oishi Y....Nagai R. (FASEB J. 2010)

    (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: 4205 HGNC: 6993 AceView: MEF2A Ensembl:ENSG00000068305 euGenes: HUgn4205
    ECgene: MEF2A H-InvDB: MEF2A

    (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 MEF2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MEF2A gene:
    Search GeneIP for patents involving MEF2A

    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, LSBio, eBioscience, 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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