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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 Apelin signaling pathway and Cell Differentiation - Index. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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.

Additional gene information for MEF2B Gene

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

Genomics for MEF2B Gene

GeneHancer (GH) Regulatory Elements for MEF2B Gene

Promoters and enhancers for MEF2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J019170 Promoter/Enhancer 1.3 Ensembl ENCODE 659.1 0.0 -32 0.2 HDGF ARID4B ZNF143 ATF7 SP3 SMAD5 SP5 NFYC MXD4 NR2F2 MEF2B GC19P020572 BORCS8-MEF2B
GH19J019171 Enhancer 1.1 Ensembl ENCODE 659.5 -2.0 -1952 1.3 ATF1 FOXA2 ARID4B DMAP1 ZNF121 ATF7 RUNX3 NFKBIZ RXRA SP5 MEF2B ZNF90 GC19P020572 BORCS8-MEF2B
GH19J018372 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.3 +789.2 789189 18 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 GDF15 NR2C2AP ENSG00000268030 IQCN UPF1 ENSG00000268938 MAU2 MEF2B ENSG00000269191 COLGALT1
GH19J018587 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37.1 +580.8 580849 3.6 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 REX1BD ENSG00000268030 UPF1 MAU2 ENSG00000268938 NR2C2AP IQCN ENSG00000269191 ELL MEF2B
GH19J018289 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +878.1 878053 6.1 YBX1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D ENSG00000268030 NR2C2AP IQCN UPF1 SUGP2 ENSG00000268938 MVB12A COLGALT1 GTPBP3 ENSG00000269439
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEF2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MEF2B gene promoter:
  • POU2F1a
  • POU2F1
  • AREB6
  • MIF-1
  • CREB
  • AP-2gamma
  • ATF6
  • SEF-1 (1)
  • Hlf
  • Ik-1

Genomic Locations for MEF2B Gene

Genomic Locations for MEF2B Gene
chr19:19,145,567-19,170,289
(GRCh38/hg38)
Size:
24,723 bases
Orientation:
Minus strand
chr19:19,256,376-19,303,400
(GRCh37/hg19)
Size:
47,025 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

Gene Families for MEF2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MEF2B Gene

Graphical View of Domain Structure for InterPro Entry

Q02080

UniProtKB/Swiss-Prot:

MEF2B_HUMAN :
  • Belongs to the MEF2 family.
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

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.
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

Phenotypes From GWAS Catalog for MEF2B Gene

Gene Ontology (GO) - Molecular Function for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 7760790
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
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

CRISPR 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEF2B

Clone Products

  • Addgene plasmids for MEF2B

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:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IDA 15567413
genes like me logo Genes that share ontologies with MEF2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MEF2B Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IBA --
GO:0007507 heart development IBA --
genes like me logo Genes that share ontologies with MEF2B: view

No data available for SIGNOR curated interactions for MEF2B Gene

Drugs & Compounds for MEF2B Gene

No Compound Related Data Available

Transcripts for MEF2B Gene

mRNA/cDNA for MEF2B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEF2B

Clone Products

  • Addgene plasmids for MEF2B

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 CGAP 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.

Evidence on tissue expression from TISSUES for MEF2B Gene

  • Muscle(4.4)
  • Heart(4.3)
  • Spleen(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MEF2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MEF2B 34 33
  • 87.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MEF2B 34 33
  • 83.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mef2b 16 34 33
  • 75.19 (n)
2310045N01Rik 34
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mef2b 33
  • 74.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves MEF2B 33
  • 65.9 (n)
-- 34
  • 54 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mef2b 34 33
  • 55.02 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mef-2 34 35
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMP1 34
  • 14 (a)
ManyToMany
RLM1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MEF2B: view image

Paralogs for MEF2B Gene

Paralogs for MEF2B Gene

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

  • MEF2B_HUMAN
  • B3KQ23_HUMAN
  • B8ZZJ5_HUMAN
  • C9J4J4_HUMAN
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 Variation AA Info Type
rs1000317247 -- 19,156,777(-) G/A intron_variant
rs1000370443 -- 19,171,189(-) G/A upstream_transcript_variant
rs1000523636 -- 19,167,635(-) T/C intron_variant
rs1000549402 -- 19,157,426(-) G/T intron_variant
rs1000578355 -- 19,160,176(-) G/A intron_variant

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

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

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)

Additional Variant Information for MEF2B Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MEF2B Gene

Additional Disease Information for MEF2B

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

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 YT … Nadal-Ginard B (Genes & development 1992) 2 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Mechanism of recruitment of class II histone deacetylases by myocyte enhancer factor-2. (PMID: 15567413) Han A … Chen L (Journal of molecular biology 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for MEF2B Gene

  • Addgene plasmids for MEF2B

Sources for MEF2B Gene

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