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MEF2D Gene

protein-coding   GIFtS: 65
GCID: GC01M156433

Myocyte Enhancer Factor 2D

  See 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 2D1 2
MADS Box Transcription Enhancer Factor 2, Polypeptide D2
Myocyte-Specific Enhancer Factor 2D2

External Ids:    HGNC: 69971   Entrez Gene: 42092   Ensembl: ENSG000001166047   OMIM: 6006635   UniProtKB: Q148143   

Export aliases for MEF2D gene to outside databases

Previous GC identifers: GC01M154302 GC01M152201 GC01M153213 GC01M153650 GC01M153246 GC01M154700 GC01M127793


(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 MEF2D Gene:
This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of
this family are involved in control of muscle and neuronal cell differentiation and development, and are
regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated
Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line,
suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic
dystrophy. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2012)

GeneCards Summary for MEF2D Gene:
MEF2D (myocyte enhancer factor 2D) is a protein-coding gene. Diseases associated with MEF2D include lymphoblastic leukemia, and migraine without aura. GO annotations related to this gene include histone deacetylase binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MEF2B.

UniProtKB/Swiss-Prot: MEF2D_HUMAN, Q14814
Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
numerous muscle-specific, 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. Plays a critical role in the regulation of neuronal apoptosis (By similarity)

Gene Wiki entry for MEF2D 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEF2D gene promoter:
         MEF-2A   CREB   STAT1   Sp1   p300   deltaCREB   STAT3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEF2D promoter sequence
   Search Chromatin IP Primers for MEF2D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEF2D


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

Entrez Gene cytogenetic band: 1q12-q23   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q12-q23

MEF2D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEF2D gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M156433:  view genomic region     (about GC identifiers)

Start:
156,433,519 bp from pter      End:
156,470,620 bp from pter
Size:
37,102 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: MEF2D_HUMAN, Q14814 (See protein sequence)
Recommended Name: Myocyte-specific enhancer factor 2D  
Size: 521 amino acids; 55938 Da
Subunit: Interacts with MYOG (By similarity). 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 HDAC4 (in undifferentiating cells); the interaction translocates MEF2D to nuclear
dots. Forms a heterodimer with MEF2A
Developmental stage: Present in myotubes and also in undifferentiated myoblasts
Secondary accessions: D3DVC0 Q14815 Q5T9U5 Q5T9U6
Alternative splicing: 6 isoforms:  Q14814-1   Q14814-2   Q14814-3   Q14814-4   Q14814-5   Q14814-6   

Explore the universe of human proteins at neXtProt for MEF2D: NX_Q14814

Explore proteomics data for MEF2D at MOPED

Post-translational modifications: 

  • Phosphorylated on Ser-444 by CDK5 is required for Lys-439 sumoylation and inhibits transcriptional activity. In
    neurons, enhanced CDK5 activity induced by neurotoxins promotes caspase 3-mediated cleavage leading to neuron
    apoptosis. Phosphorylation on Ser-180 can be enhanced by EGF. Phosphorylated and activated by CaMK41
  • Acetylated on Lys-439 by CREBBP. Deacetylated by SIRT11
  • Sumoylated on Lys-439 with SUMO2 but not SUMO1; which inhibits transcriptional activity and myogenic activity.
    Desumoylated by SENP31
  • Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 7 following neurotoxicity.
    Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and
    transcriptional inactivation (By similarity)1
  • Ubiquitination2 at Lys64, Lys68
  • Modification sites at PhosphoSitePlus

  • See MEF2D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258558.1  NP_005911.1  

    ENSEMBL proteins: 
     ENSP00000476788   ENSP00000271555   ENSP00000353803   ENSP00000477413   ENSP00000477124  
     ENSP00000343159   ENSP00000357223   ENSP00000344705  
    Reactome Protein details: Q14814

    MEF2D Human Recombinant Protein Products:

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

    2 InterPro protein domains:
     IPR002100 TF_MADSbox
     IPR022102 HJURP_C

    Graphical View of Domain Structure for InterPro Entry Q14814

    ProtoNet protein and cluster: Q14814

    1 Blocks protein domain: IPB002100 Transcription factor

    UniProtKB/Swiss-Prot: MEF2D_HUMAN, Q14814
    Domain: The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity
    Similarity: Belongs to the MEF2 family
    Similarity: Contains 1 MADS-box domain
    Similarity: Contains 1 Mef2-type DNA-binding domain


    MEF2D for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MEF2D_HUMAN, Q14814
    Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
    numerous muscle-specific, 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. Plays a critical role in the regulation of neuronal apoptosis (By similarity)

         Genatlas biochemistry entry for MEF2D:
    myocyte-specific enhancer binding factor 2D,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 8):    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 IDA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8575763
    GO:0005515protein binding IPI16043483
         
    MEF2D for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mef2d):
     cardiovascular system  mortality/aging  muscle  skeleton 

    MEF2D for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mef2dtm1.1Eno for MEF2D

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEF2D
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEF2D

    miRNA
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    miRTarBase miRNAs that target MEF2D:
    hsa-mir-320a (MIRT044549), hsa-mir-20a-5p (MIRT003012), hsa-mir-26b-5p (MIRT029852), hsa-mir-877-5p (MIRT037248), hsa-mir-19b-3p (MIRT031251), hsa-mir-17-5p (MIRT003015), hsa-mir-99a-5p (MIRT027395), hsa-let-7f-5p (MIRT051353)

    Block miRNA regulation of human, mouse, rat MEF2D using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEF2D (see all 161):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-361-5p hsa-miR-1321 hsa-miR-3916 hsa-miR-4275 hsa-miR-298 hsa-miR-637
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MEF2D

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2D


    (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
    MEF2D_HUMAN, Q14814: Nucleus. Note=Translocated by HDAC4 to nuclear dots
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    MEF2D for ontologies           About GeneDecksing


    (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 MEF2D About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42
    2CREB Pathway
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    3CDO in myogenesis
    CDO in myogenesis1.00
    Myogenesis1.00
    4Immune response Function of MEF2 in T lymphocytes
    Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis0.38
    Immune response Function of MEF2 in T lymphocytes0.38
    5Circadian Clock
    Circadian Clock0.66

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MEF2D (see all 17)
        MAPK Signaling
    Calcium Mediated T-Cell Apoptosis
    Nur77 Signaling in T-Cell
    G12-G13 in Cellular Signaling
    Intracellular Calcium Signaling

    5 GeneGo (Thomson Reuters) Pathways for MEF2D
        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 MEF2D (see all 7)
        Adipogenesis
    p38 MAPK Signaling Pathway
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    Energy Metabolism
    Signaling events mediated by HDAC Class III


    3 Reactome Pathways for MEF2D
        Circadian Clock
    Transcriptional activation of mitochondrial biogenesis
    CDO in myogenesis



    MEF2D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MEF2D
    Interactions:

        GeneGlobe Interaction Network for MEF2D

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

    Selected Interacting proteins for MEF2D (Q148142, 3 ENSP000002715554) via UniProtKB, MINT, STRING, and/or I2D (see all 142)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-8005675 I2D: score=4 STRING: ENSP00000238081
    HDAC4P565243, ENSP000002646064I2D: score=4 STRING: ENSP00000264606
    COPS5Q929053, ENSP000003505124I2D: score=3 STRING: ENSP00000350512
    MAPK7Q131643, ENSP000003110054I2D: score=3 STRING: ENSP00000311005
    SENP3Q9H4L43, ENSP000003140294I2D: score=3 STRING: ENSP00000314029
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    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEA--
    GO:0001958endochondral ossification IEA--
    GO:0002062chondrocyte differentiation IEA--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----

    MEF2D for ontologies           About GeneDecksing



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for MEF2D

    3 Novoseek inferred chemical compound relationships for MEF2D gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 37.9 2 16945991 (1), 15864539 (1)
    glucose 20.6 3 16945991 (1), 15864539 (1)
    calcium 0 1 17111365 (1)



    MEF2D for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MEF2D gene (2 alternative transcripts): 
    NM_001271629.1  NM_005920.3  

    Unigene Cluster for MEF2D:

    Myocyte enhancer factor 2D
    Hs.314327  [show with all ESTs]
    Unigene Representative Sequence: AB210005
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464356 ENST00000348159(uc001fpb.3 uc001fpc.3 uc001fpd.3 uc009wsa.3 uc001fpe.1)
    ENST00000360595 ENST00000475587 ENST00000493077 ENST00000489057 ENST00000340875
    ENST00000368240 ENST00000353795
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    hsa-miR-411* hsa-miR-140-5p hsa-miR-361-5p hsa-miR-1321 hsa-miR-3916 hsa-miR-4275 hsa-miR-298 hsa-miR-637
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    Additional mRNA sequence: 

    AB210005.1 AF086193.1 AK027180.1 AK056972.1 AK308641.1 BC018985.2 BC032479.1 BC040949.1 
    BC054520.1 BX640792.1 BX647226.1 L16794.1 

    17 DOTS entries:

    DT.446366  DT.456248  DT.75108971  DT.100682501  DT.100014646  DT.91751547  DT.121383071  DT.100812878 
    DT.92018690  DT.95291474  DT.99975797  DT.100780775  DT.121383037  DT.121383051  DT.92420001  DT.95291467 
    DT.97858716 

    Selected AceView cDNA sequences (see all 291):

    AI628644 AI265995 BM931141 AK056972 NM_005920 AI247009 AW473220 AI241808 
    BM710464 AI867998 AW316723 AI379279 BI789227 CD671172 AW468271 BI962725 
    CK821232 BC040949 BQ576240 CA337634 BQ940478 AA324057 BM713038 BQ223997 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MEF2D (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -                                                                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:        -     -     -                                                                                                                                       


    ECgene alternative splicing isoforms for MEF2D

    (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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    MEF2D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGTGCCCC
    MEF2D Expression
    About this image


    MEF2D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    MEF2D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEF2D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.314327
        Custom PCR Arrays for MEF2D
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MEF2D gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mef2d1 , 5 myocyte enhancer factor 2D1, 5 91.06(n)1
    95.86(a)1
      3 (38.78 cM)5
    172611  NM_133665.31  NP_598426.11 
     881423725 
    chicken
    (Gallus gallus)
    Aves MEF2D1 myocyte enhancer factor 2D 75.2(n)
    79.53(a)
      431059  NM_001031600.2  NP_001026771.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.199912 X.laevis mRNA for SRF-related protein (clone SL-1) 77.81(n)    Z19124.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mef2d2 myocyte enhancer factor 2d 78.89(n)   30580  NM_131317.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mef26
    Myocyte enhancer factor 2
    31(a)
    1 → many
    2R(5801001-5846350)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RLM1(YPL089C)4 MADS-box transcription factor, component of the protein more   --   16(381150-379120) 856016  NP_015236.1 
    rice
    (Oryza sativa)
    Liliopsida Os.41532 Oryza sativa mRNA for M79 protein 75.32(n)    AK100263.1 


    ENSEMBL Gene Tree for MEF2D (if available)
    TreeFam Gene Tree for MEF2D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEF2D gene
    MEF2B2  MEF2C2  MEF2A2  MEF2BNB-MEF2B2  
    7 SIMAP similar genes for MEF2D using alignment to 2 protein entries:     MEF2D_HUMAN (see all proteins):
    DAZAP1/MEF2D fusion    MEF2D variant protein    MEF2BNB-MEF2B    MEF2A    MEF2C    MEF2D/DAZAP1 fusion
    MEF2B

    MEF2D for paralogs           About GeneDecksing



    (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 MEF2D (see all 725)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1388662701,2
    --156433147(+) TGCCCA/GGGCAA 2 -- ds50010--------
    rs1900478141,2
    --156433198(+) CCGTGC/TCAACT 2 -- ds50010--------
    rs741168481,2
    C--156433215(+) CCCAAC/TACCAT 2 -- ds50012Minor allele frequency- T:0.05WA 120
    rs1918057041,2
    --156433274(+) AATCCC/TTCCTG 2 -- ds50010--------
    rs612960811,2
    C,F--156433299(+) GCAATC/TCCTCC 2 -- ds50012Minor allele frequency- T:0.04WA 120
    rs37485651,2
    C,F,H--156433304(+) CCCTCC/TTTAGT 2 -- ds50015Minor allele frequency- T:0.02EA NS NA 342
    rs1447269281,2
    --156433511(+) ACCCAC/TGCCGA 2 -- ds50010--------
    rs37485661,2
    C,H--156433524(+) TATCAG/AAAACG 2 -- ut31 ese34Minor allele frequency- A:0.00NS EA 418
    rs412673631,2
    --156433750(+) AGTGTA/GGGTGA 2 -- ut310--------
    rs1840612441,2
    --156433829(+) CCCTCC/TCTCTG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MEF2D (156433519 - 156470620 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MEF2D: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEF2D
    DNA2.0 Custom Variant and Variant Library Synthesis for MEF2D

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600663    OMIM disorders: --

    15 diseases for MEF2D:    
    About MalaCards
    lymphoblastic leukemia    migraine without aura    myotonic dystrophy    azoospermia
    parkinson's disease    migraine    leukemia    nasopharyngitis
    neuronitis    tonsillitis    hypertension    endotheliitis
    thyroiditis    cerebritis    prostatitis


    MEF2D for disorders           About GeneDecksing

    Genetic Association Database (GAD): MEF2D
    Human Genome Epidemiology (HuGE) Navigator: MEF2D (9 documents)

    Export disorders for MEF2D 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 MEF2D gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with MEF2D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage. (PubMed id 8269842)1, 2, 3, 9 Breitbart R.E....Nadal-Ginard B. (Development 1993)
    2. Control of MEF2 transcriptional activity by coordinated phosphorylation and sumoylation. (PubMed id 16356933)1, 2, 9 Gregoire S.... Yang X.-J. (J. Biol. Chem. 2006)
    3. Big mitogen-activated kinase regulates multiple members of the MEF2 protein family. (PubMed id 10849446)1, 2, 9 Kato Y.... Lee J.D. (J. Biol. Chem. 2000)
    4. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PubMed id 20682687)1, 4 Jablonski K.A....Florez J.C. (Diabetes 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    9. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    10. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 4209 HGNC: 6997 AceView: MEF2D Ensembl:ENSG00000116604 euGenes: HUgn4209
    ECgene: MEF2D H-InvDB: MEF2D

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for MEF2D Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MEF2D Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MEF2D gene:
    Search GeneIP for patents involving MEF2D

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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