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Aliases for MEF2B Gene

Aliases for MEF2B Gene

  • Myocyte Enhancer Factor 2B 2 3 5
  • Serum Response Factor-Like Protein 2 3 4
  • RSRFR2 3 4
  • MADS Box Transcription Enhancer Factor 2, Polypeptide B (Myocyte Enhancer Factor 2B) 3
  • Myocyte-Specific Enhancer Factor 2B 3
  • XMEF2 4

External Ids for MEF2B Gene

Previous GeneCards Identifiers for MEF2B Gene

  • GC19M019750
  • GC19M019648
  • GC19M019101
  • GC19M019117
  • GC19M019256
  • GC19M018820

Summaries for MEF2B Gene

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. Among its related pathways are fMLP Pathway and CDO in myogenesis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is BORCS8-MEF2B.

UniProtKB/Swiss-Prot for MEF2B Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEF2B Gene

Genomics for MEF2B Gene

Regulatory Elements for MEF2B Gene

Enhancers for MEF2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F019031 1.5 FANTOM5 ENCODE 10.2 +136.9 136913 3.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 TMEM161A MEF2B RFXANK BORCS8 BORCS8-MEF2B SLC25A42 ARMC6 SUGP2 SUGP1 DDX49
GH19F019039 1.1 Ensembl ENCODE 10.6 +130.1 130116 2.1 USF1 SAP130 ARID4B ZMYM3 ZNF384 CEBPG YY1 ZNF366 POLR2A EED TMEM161A SLC25A42 MEF2B BORCS8 BORCS8-MEF2B RFXANK HOMER3 HAPLN4 ARMC6 SUGP2
GH19F019171 1.2 Ensembl ENCODE 9.6 -2.0 -2000 1.4 ATF1 ARID4B DMAP1 ZNF121 KLF13 SP5 PPARG KAT8 ATF4 ETV4 MEF2B ZNF90 GC19P019190
GH19F019094 1 ENCODE 10.8 +74.3 74286 3.7 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 NFYC ZHX2 SLC25A42 TMEM161A MEF2B BORCS8 BORCS8-MEF2B RFXANK ZNF253 ARMC6 GC19P019107
GH19F019112 0.9 Ensembl ENCODE 11.8 +57.1 57052 0.7 BCOR CTCF RFX1 SP2 ZMYM3 REST RAD21 POLR2A GLIS1 SMC3 TMEM161A SLC25A42 ARMC6 SUGP2 MEF2B BORCS8 BORCS8-MEF2B RFXANK HAPLN4 GC19P019107
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MEF2B on UCSC Golden Path with GeneCards custom track

Promoters for MEF2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001816672 89 401 HDGF ZNF143 SP3 SP5 SMAD5 NFYC NR2F2 SP1 KLF16 IRF1

Genomic Location for MEF2B Gene

Chromosome:
19
Start:
19,145,567 bp from pter
End:
19,170,289 bp from pter
Size:
24,723 bases
Orientation:
Minus strand

Genomic View for MEF2B Gene

Genes around MEF2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEF2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEF2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEF2B Gene

Proteins for MEF2B Gene

  • Protein details for MEF2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02080-MEF2B_HUMAN
    Recommended name:
    Myocyte-specific enhancer factor 2B
    Protein Accession:
    Q02080
    Secondary Accessions:
    • A0AV80
    • B4DVH7
    • B7ZVY1
    • G5E9M1

    Protein attributes for MEF2B Gene

    Size:
    365 amino acids
    Molecular mass:
    38639 Da
    Quaternary structure:
    • Interacts with HDAC7 (By similarity). Heterodimer. Interacts with HDAC9.

    Three dimensional structures from OCA and Proteopedia for MEF2B Gene

    Alternative splice isoforms for MEF2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEF2B Gene

Post-translational modifications for MEF2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MEF2B Gene

No data available for DME Specific Peptides for MEF2B Gene

Domains & Families for MEF2B Gene

Protein Domains for MEF2B Gene

Graphical View of Domain Structure for InterPro Entry

Q02080

UniProtKB/Swiss-Prot:

MEF2B_HUMAN :
  • Contains 1 MADS-box domain.
  • Belongs to the MEF2 family.
Domain:
  • Contains 1 MADS-box domain.
  • Contains 1 Mef2-type DNA-binding domain.
Family:
  • Belongs to the MEF2 family.
genes like me logo Genes that share domains with MEF2B: view

Function for MEF2B Gene

Molecular function for MEF2B Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 7760790
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 7760790
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 8575763
genes like me logo Genes that share ontologies with MEF2B: view
genes like me logo Genes that share phenotypes with MEF2B: view

Animal Model Products

Targeted motifs for MEF2B Gene
HOMER Transcription Factor Regulatory Elements motif MEF2B
  • Consensus sequence: GCTATTTTTGGM Submotif: canonical Cell Type: HEK293 GEO ID: GSE67450

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA and Transcription Factor Targets for MEF2B Gene

Localization for MEF2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEF2B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEF2B gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2

Gene Ontology (GO) - Cellular Components for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IDA 15567413
genes like me logo Genes that share ontologies with MEF2B: view

Pathways & Interactions for MEF2B Gene

genes like me logo Genes that share pathways with MEF2B: view

Interacting Proteins for MEF2B Gene

Gene Ontology (GO) - Biological Process for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007517 muscle organ development TAS 1516833
genes like me logo Genes that share ontologies with MEF2B: view

No data available for SIGNOR curated interactions for MEF2B Gene

Transcripts for MEF2B Gene

mRNA/cDNA for MEF2B Gene

(1) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEF2B Gene

No ASD Table

Relevant External Links for MEF2B Gene

GeneLoc Exon Structure for
MEF2B
ECgene alternative splicing isoforms for
MEF2B

Expression for MEF2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEF2B Gene

mRNA differential expression in normal tissues according to GTEx for MEF2B Gene

This gene is overexpressed in Whole Blood (x5.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MEF2B Gene



NURSA nuclear receptor signaling pathways regulating expression of MEF2B Gene:

MEF2B

mRNA Expression by UniProt/SwissProt for MEF2B Gene:

Q02080-MEF2B_HUMAN
Tissue specificity: Expressed in skeletal and cardiac muscle and brain.
genes like me logo Genes that share expression patterns with MEF2B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for MEF2B Gene

Orthologs for MEF2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MEF2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEF2B 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia MEF2B 34 35
  • 87.05 (n)
dog
(Canis familiaris)
Mammalia MEF2B 34 35
  • 83.42 (n)
mouse
(Mus musculus)
Mammalia Mef2b 34 16 35
  • 75.19 (n)
2310045N01Rik 35
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mef2b 34
  • 74.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves MEF2B 34
  • 65.9 (n)
-- 35
  • 54 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mef2b 34 35
  • 55.02 (n)
worm
(Caenorhabditis elegans)
Secernentea mef-2 36 35
  • 78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMP1 35
  • 14 (a)
ManyToMany
RLM1 35
  • 11 (a)
ManyToMany
Species where no ortholog for MEF2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MEF2B Gene

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

Paralogs for MEF2B Gene

Paralogs for MEF2B Gene

(5) SIMAP similar genes for MEF2B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MEF2B: view

Variants for MEF2B Gene

Sequence variations from dbSNP and Humsavar for MEF2B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1005980 -- 19,160,689(+) CCCGG(C/G)CCCTG intron-variant
rs1005981 -- 19,162,314(+) ttttt(G/T)tagag intron-variant
rs1005982 -- 19,162,479(+) TGAAA(G/T)GCAGG intron-variant
rs1006056 -- 19,164,391(-) TCAGC(A/C)CTGTC intron-variant
rs1006057 -- 19,163,338(-) acccc(A/G)gctct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEF2B Gene

Variant ID Type Subtype PubMed ID
nsv833779 CNV loss 17160897
nsv819543 CNV gain 19587683
nsv1151217 CNV deletion 26484159
nsv1134765 CNV deletion 24896259
esv5981 CNV loss 19470904
esv3643846 CNV loss 21293372
esv3556145 CNV deletion 23714750
esv3093790 CNV deletion 24192839
esv2718291 CNV deletion 23290073
esv2677504 CNV deletion 23128226
esv1336135 CNV deletion 17803354
dgv1730n106 CNV deletion 24896259

Variation tolerance for MEF2B Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEF2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEF2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEF2B Gene

Disorders for MEF2B Gene

Relevant External Links for MEF2B

Genetic Association Database (GAD)
MEF2B
Human Genome Epidemiology (HuGE) Navigator
MEF2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEF2B

No disorders were found for MEF2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MEF2B Gene

Publications for MEF2B Gene

  1. Human myocyte-specific enhancer factor 2 comprises a group of tissue- restricted MADS box transcription factors. (PMID: 1516833) Yu Y.-T. … Nadal-Ginard B. (Genes Dev. 1992) 2 3 4 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Mechanism of recruitment of class II histone deacetylases by myocyte enhancer factor-2. (PMID: 15567413) Han A. … Chen L. (J. Mol. Biol. 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64

Products for MEF2B Gene

Sources for MEF2B Gene

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