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

MEF2A Gene

protein-coding   GIFtS: 67
GCID: GC15P100107

myocyte enhancer factor 2A
 Explore 22 diseases affiliated with
MEF2A via
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Biological research products
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Aliases
for MEF2A 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 2A1 2     MADS Box Transcription Enhancer Factor 2, Polypeptide A (Myocyte Enhancer
Factor 2A)2
RSRFC41 2     Mef21
RSRFC91 2     Myocyte-Specific Enhancer Factor 2A2
Serum Response Factor-Like Protein 12 3     MEF23
ADCAD12 5     

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


Summaries
for MEF2A 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 MEF2A:
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)

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

Gene Wiki entry for MEF2A (Myocyte-specific enhancer factor 2A)


Genomic Views
for MEF2A 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_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences 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 plasmid: MEF2A promoter sequence
   Search SABiosciences Chromatin IP Primers for MEF2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MEF2A 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: 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
Subcellular location: Nucleus
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)

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02078

    • MEF2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals MEF2A Protein
    Novus Biologicals MEF2A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MEF2A

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus IDA16484498
    GO:0005654nucleoplasm TAS--


    MEF2A for ontologies           About GeneDecksing



    MEF2A Antibody Products: 
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    Uscn ELISAs and CLIAs for MEF2A

    Protein Domains /
    Families
    for MEF2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MEF2A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002100 TF_MADSbox
     IPR022102 HJURP_C

    Graphical View of Domain Structure for InterPro Entry Q02078

    ProtoNet protein and cluster: Q02078

    1 Blocks protein family: 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


    Function
    for MEF2A 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: 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

         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

    10/551 SABiosciences Target genes for MEF2A (see all 551):
    ABCB4 ABTB2 ACTR10 ACTR3 ADAM22 ADAM32 ADAM7 ADAMDEC1 ADH4 AGAP1

    miRNA
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    hsa-mir-1 (MIRT000391)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MEF2A
    8/98 QIAGEN miScript miRNA 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 plasmid: MEF2A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MEF2A (see all 7)
    OriGene shRNA RFP: MEF2A
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MEF2A

    Gene Editing
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    Clone
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2A

    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 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--


    MEF2A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MEF2A:
     Elongated cells 

    Animal Models:
         Mouse knock-out Mef2atm1Eno for MEF2A
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mef2a):
     cardiovascular system  mortality/aging  muscle  respiratory system 

    MEF2A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MEF2A 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 - 5/32 super-pathways (see all 32) 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 EMD Millipore Pathways for MEF2A
        Signal transduction Calcium signaling
    Immune response Function of MEF2 in T lymphocytes
    Signal transduction IP3 signaling
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Signal transduction Activation of PKC via G-Protein coupled receptor

    5/15 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 BioSystems Pathways for MEF2A (see all 6) 
        Adipogenesis
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    TGF-beta Receptor Signaling Pathway
    Energy Metabolism
    Signaling mediated by p38-alpha and p38-beta

    5/30        Reactome Pathways for MEF2A (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



    MEF2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MEF2A

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

    5/70 Interacting proteins for MEF2A (Q020782, 3 ENSP000003463894) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    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): 5/82 biological process terms (GO ID links to tree view) (see all 82):    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 ----


    MEF2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for MEF2A 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

    MEF2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MEF2A
    10/26 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MEF2A 

    Transcripts
    for MEF2A 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,
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    About This Section
    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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    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 plasmid: MEF2A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MEF2A (see all 7)
    OriGene shRNA RFP: MEF2A
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MEF2A
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MEF2A

    Additional cDNA 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 

    24/277 AceView cDNA sequences (see all 277):

    BM974757 X68504 BX088956 BM353827 BM353555 BE349601 CA423331 AA737165 
    AA629273 X68503 BM746582 AA662360 T36268 BM739510 AU279416 BM970500 
    AL598358 AA554287 CA447375 AI494335 CB130503 AI969445 BU679352 AA325448 

    GeneLoc Exon Structure

    5/12 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

    Expression
    for MEF2A 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

    MEF2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAACCGTT

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

    MEF2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    HeartRight AtriumCardiomyocytesMyocardium
    MesodermMesodermCardiac progenitor CellsEndocardium, Myocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage

    See MEF2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MEF2A

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MEF2A: 
              Transcription Factors in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for MEF2A 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 MEF2A gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MEF2A1 myocyte enhancer factor 2A 78.84(n)
    84.69(a)    		   395670  NM_204864.1  NP_990195.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MEF2A6
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343383.1(450633-492203)
    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 Mef21 , 3 mesoderm development transcription factor3
    Myocyte enhancer factor 21    		 42(a)3
    50(n)1
    51.13(a)1    		   360321  NM_057670.31  NP_477018.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AGL336
    AGL216
    (see all 46)    		 agamous-like MADS-box protein AGL21
    (see all 46)    		 26(a)
    20(a)
    (see all 46)    		 many ↔ many
    many ↔ many
    (see all 46)    		 2(11205389-11206287)
    4(17835572-17838621)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 42)    		 transcription factor, putative, expressed
    (see all 42)    		 8(a)
    5(a)
    (see all 42)    		 many ↔ many
    many ↔ many
    (see all 42)    		 11(25942807-25946855)
    3(1268854-1270781)


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

    Paralogs
    for MEF2A gene

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

    MEF2A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MEF2A
    PGOHUM00000259505


    Genomic Variants
    for MEF2A 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

    10/2529 NCBI SNPs in MEF2A are shown (see all 2529)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219185291,2
    		C,pathogenic80677203(+) CCCCCC/TTTCAA 10 P L mis11Minor allele frequency- T:0.00EU 569
    rs1219185301,2
    		C,F,pathogenic80677251(+) TGGTAA/GTCTTG 10 N S mis11Minor allele frequency- G:0.00EU 579
    rs727605131,2
    		C,--76234217(+) GCTCTC/GAGCAG 4 -- us2k10--------
    rs740337451,2
    		C,--76234251(+) TCTGCC/TGTCTA 4 -- us2k11Minor allele frequency- T:0.50WA 2
    rs25709281,2
    		C,A,H,--76235030(+) CTGCCT/CGTGCC 4 -- us2k15Minor allele frequency- C:0.15NS EA WA 518
    rs25708001,2
    		C,F,A,--76235075(+) GCGGGC/TGTGGC 4 -- us2k1 tfbs31Minor allele frequency- T:0.40WA 118
    rs129156021,2
    		H--76235771(+) CGGCGG/TAGGTA 4 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs25709261,2
    		C,H,--76237493(-) acacaG/TTACAT 4 -- int15Minor allele frequency- T:0.07NS NA CSA WA 244
    rs727605141,2
    		C,--76238083(+) GAAAAT/CAGCTT 4 -- int12Minor allele frequency- C:0.07NA 122
    rs71637641,2
    		C,F,A,H,--76238284(+) ATTTCG/ATTACA 4 -- int112Minor allele frequency- A:0.08NS EA NA WA 1488

    HapMap Linkage Disequilibrium report for MEF2A (100017370 - 100256671 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MEF2A
         1 CNV: 102177
    Human Gene Mutation Database (HGMD): MEF2A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MEF2A
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    Disorders / Diseases
    for MEF2A 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
    MEF2A for disorders           About GeneDecksing

    OMIM gene information: 600660   
    OMIM disorders: 608320  
    UniProtKB/Swiss-Prot: MEF2A_HUMAN, Q02078
  • Defects in MEF2A are a cause of coronary artery disease, autosomal dominant, type 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

    20/22 diseases for MEF2A (see all 22):    About MalaCards
    myocardial infarction    coronary artery disease, autosomal dominant, 1    congenital diaphragmatic hernia    dilated cardiomyopathy
    familial dilated cardiomyopathy    polycystic ovary syndrome    insulin resistance    muscle hypertrophy
    hypertrophic cardiomyopathy    cardiomyopathy    hernia    neuronitis
    rhabdomyosarcoma    embryonal carcinoma    alzheimer's disease    hepatitis c
    medulloblastoma    hepatocellular carcinoma    carcinoma    hepatitis

    10/19 Novoseek 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

    Publications
    for MEF2A 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 MEF2A gene, integrated from 9 sources (see all 374):
    (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. (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. (1992)
    3. The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction. (PubMed id 15958500)1, 2, 4, 9 Gonzalez P.... Coto E. (2006)
    4. Regulation of the MEF2 family of transcription factors by p38. (PubMed id 9858528)1, 2, 9 Zhao M.... Han J.-D. (1999)
    5. 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. (2003)
    6. 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. (2002)
    7. 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)
    8. SUMO-1 modification of MEF2A regulates its transcriptional activity. (PubMed id 16563226)1, 2, 9 Riquelme C.... Liu X. (2006)
    9. Lack of MEF2A mutations in coronary artery disease. (PubMed id 15841183)1, 4, 9 Weng L....Pennacchio L.A. (2005)
    10. Assessment of MEF2A mutations in myocardial infarction in Japanese patients. (PubMed id 16195615)1, 4, 9 Kajimoto K....Iwai N. (2005)

    External Searches for MEF2A 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 MEF2A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4205 HGNC: 6993 AceView: MEF2A Ensembl:ENSG00000068305 euGenes: HUgn4205
    ECgene: MEF2A H-InvDB: MEF2A

    Other Databases showing MEF2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MEF2A 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 MEF2A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MEF2A gene

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



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