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MEF2B Gene

protein-coding   GIFtS: 45
GCID: GC19M019256

Myocyte Enhancer Factor 2B

  See MEF2B-related disease
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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Myocyte Enhancer Factor 2B1 2
Serum Response Factor-Like Protein 22 3
RSRFR22 3
MADS Box Transcription Enhancer Factor 2, Polypeptide B (Myocyte Enhancer
Factor 2B)2
Myocyte-Specific Enhancer Factor 2B2
XMEF23

External Ids:    HGNC: 69951   Entrez Gene: 1002718492   Ensembl: ENSG000002139997   OMIM: 6006615   UniProtKB: Q020803   
ORGUL members:         

Export aliases for MEF2B gene to outside databases

Previous GC identifers: GC19M019750 GC19M019648 GC19M019101 GC19M019117 GC19M018820


(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 MEF2B Gene:
The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to
regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region
undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991
and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207).
Several isoforms of this protein are expressed from either this locus or from some of the read-through
transcripts annotated on GeneID 4207. (provided by RefSeq, Jan 2014)

GeneCards Summary for MEF2B Gene:
MEF2B (myocyte enhancer factor 2B) is a protein-coding gene. Diseases associated with MEF2B include non-hodgkin lymphoma. 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 MEF2D.

UniProtKB/Swiss-Prot: MEF2B_HUMAN, Q02080
Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific
and/or growth factor-related transcription




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the MEF2B gene promoter:
         MIF-1   AP-2gamma   AREB6   CREB   POU2F1   POU2F1a   SEF-1 (1)   Ik-1   ATF6   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEF2B promoter sequence
   Search Chromatin IP Primers for MEF2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEF2B


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

MEF2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEF2B gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M019256:  view genomic region     (about GC identifiers)

Start:
19,256,376 bp from pter      End:
19,303,400 bp from pter
Size:
47,025 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MEF2B

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MEF2B_HUMAN, Q02080 (See protein sequence)
Recommended Name: Myocyte-specific enhancer factor 2B  
Size: 365 amino acids; 38639 Da
Subunit: Interacts with HDAC7 (By similarity). Heterodimer. Interacts with HDAC9
2 PDB 3D structures from and Proteopedia for MEF2B:
1N6J (3D)        1TQE (3D)    
Secondary accessions: A0AV80 B4DVH7 B7ZVY1 G5E9M1
Alternative splicing: 2 isoforms:  Q02080-1   Q02080-2   

Explore the universe of human proteins at neXtProt for MEF2B: NX_Q02080

Explore proteomics data for MEF2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MEF2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001139257.1  
    ENSEMBL proteins: 
     ENSP00000386480   ENSP00000402154   ENSP00000386374   ENSP00000386784   ENSP00000473308  
     ENSP00000162023  
    Reactome Protein details: Q02080

    MEF2B 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

    1 InterPro protein domain:
     IPR002100 TF_MADSbox

    Graphical View of Domain Structure for InterPro Entry Q02080

    ProtoNet protein and cluster: Q02080

    1 Blocks protein domain: IPB002100 Transcription factor

    UniProtKB/Swiss-Prot: MEF2B_HUMAN, Q02080
    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 MEF2B           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: MEF2B_HUMAN, Q02080
    Function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in
    numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific
    and/or growth factor-related transcription

         Genatlas biochemistry entry for MEF2B:
    myocyte-specific enhancer binding factor 2B,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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8575763
    GO:0042826histone deacetylase binding IPI15567413
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with MEF2B           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MEF2B

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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
    MEF2B_HUMAN, Q02080: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    extracellular2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IDA15567413
    GO:0005737cytoplasm IDA--
    GO:0030054cell junction IDA--

    Find genes that share ontologies with MEF2B           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 MEF2B About    
    See pathways by source

    SuperPathContained pathways About
    1SRF and miRs in Smooth Muscle Differentiation and Proliferation
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    2miRs in Muscle Cell Differentiation
    miRs in Muscle Cell Differentiation
    3Energy Metabolism
    Energy Metabolism
    4Adipogenesis
    Adipogenesis


    Find genes that share SuperPaths with MEF2B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 GeneGo (Thomson Reuters) Pathways for MEF2B
        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

    4 BioSystems Pathways for MEF2B
        Adipogenesis
    SRF and miRs in Smooth Muscle Differentiation and Proliferation
    Energy Metabolism
    miRs in Muscle Cell Differentiation

    1 Reactome Pathway for MEF2B
        CDO in myogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MEF2B
    Interactions:

        GeneGlobe Interaction Network for MEF2B

    4 Interacting proteins for MEF2B (Q020803) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TEX11Q8IYF33I2D: score=4 
    CABIN1Q9Y6J03I2D: score=3 
    GIGYF1O754203I2D: score=2 
    GOLGA2Q083793I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007517muscle organ development TAS1516833

    Find genes that share ontologies with MEF2B           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 MEF2B



    (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 MEF2B gene: 
    NM_001145785.1  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409224(uc002nll.2 uc002nlk.2) ENST00000424583 ENST00000410050
    ENST00000409447 ENST00000602424 ENST00000162023
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      QuantiFast Probe-based Assays in human, mouse, rat MEF2B

    GeneLoc Exon Structure


    (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)
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    MEF2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MEF2B Expression
    About this image

    MEF2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEF2B Protein Expression

    UniProtKB/Swiss-Prot: MEF2B_HUMAN, Q02080
    Tissue specificity: Expressed in skeletal and cardiac muscle and brain

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEF2B

    (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 animals and fungi.

    Orthologs for MEF2B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mef2b1 myocyte enhancer factor 2B 75.19(n)
    72.13(a)
      17259  NM_008578.2  NP_032604.2 
    chicken
    (Gallus gallus)
    Aves MEF2B1 myocyte enhancer factor 2B 65.9(n)
    60.98(a)
      426373  XM_430389.4  XP_430389.3 
    zebrafish
    (Danio rerio)
    Actinopterygii mef2b1 myocyte enhancer factor 2b 55.02(n)
    51.6(a)
      558073  NM_001278856.1  NP_001265785.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mef-23 MEF-2 protein 78(a)   I(9104071-9108117)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SMP16
    RLM16
    Putative transcription factor involved in regulati...
    MADS-box transcription factor, component of the pr...
    14(a)
    11(a)
    many ↔ many
    many ↔ many
    II(593506-594864) YBR182C
    XVI(379120-381150) YPL089C


    ENSEMBL Gene Tree for MEF2B (if available)
    TreeFam Gene Tree for MEF2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEF2B gene
    MEF2D2  MEF2C2  MEF2A2  MEF2BNB-MEF2B2  
    5 SIMAP similar genes for MEF2B using alignment to 4 protein entries:     MEF2B_HUMAN (see all proteins):
    MEF2BNB-MEF2B    MEF2A    MEF2D    MEF2C    MEF2D variant protein

    Find genes that share paralogs with MEF2B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MEF2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1336135CNV Deletion17803354
    esv2677504CNV Deletion23128226
    esv2718291CNV Deletion23290073
    nsv833779CNV Loss17160897
    nsv911303CNV Loss21882294
    esv5981CNV Loss19470904
    nsv819543CNV Gain19587683

    Site Specific Mutation Identification with PCR Assays
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    (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: 600661    OMIM disorders: --

    1 disease for MEF2B:    
    About MalaCards
    non-hodgkin lymphoma


    Find genes that share disorders with MEF2B           About GenesLikeMe

    Genetic Association Database (GAD): MEF2B
    Human Genome Epidemiology (HuGE) Navigator: MEF2B (6 documents)

    Export disorders for MEF2B 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 MEF2B gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with MEF2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human myocyte-specific enhancer factor 2 comprises a group of tissue- restricted MADS box transcription factors. (PubMed id 1516833)1, 2, 3 Yu Y.-T....Nadal-Ginard B. (Genes Dev. 1992)
    2. 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)
    3. Mechanism of recruitment of class II histone deacetylases by myocyte enhancer factor-2. (PubMed id 15567413)1, 2 Han A.... Chen L. (J. Mol. Biol. 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    7. Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2. (PubMed id 12700764)1, 2 Han A.... Chen L. (Nature 2003)
    8. Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23. (PubMed id 8575763)1, 3 Hobson G.M....Funanage V.L. (Genomics 1995)
    9. Human SRF-related proteins: DNA-binding properties and potential regulatory targets. (PubMed id 1748287)1, 2 Pollock R. and Treisman R. (Genes Dev. 1991)
    10. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)

    (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: 100271849 HGNC: 6995 Ensembl:ENSG00000213999 euGenes: HUgn100271849 ECgene: MEF2B
    H-InvDB: MEF2B

    (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 MEF2B 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 MEF2B gene:
    Search GeneIP for patents involving MEF2B

    GeneCards and IP:
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