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 tr... See more...

Aliases for MEF2B Gene

Aliases for MEF2B Gene

  • Myocyte Enhancer Factor 2B 2 3 5
  • RSRFR2 2 3 4
  • Serum Response Factor-Like Protein 2 3 4
  • Myocyte-Specific Enhancer Factor 2B 3 4
  • MADS Box Transcription Enhancer Factor 2, Polypeptide B (Myocyte Enhancer Factor 2B) 3
  • MEF2B 5
  • 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. Diseases associated with MEF2B include Mantle Cell Lymphoma. Among its related pathways are Apelin signaling pathway and cGMP-PKG signaling pathway. 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 Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEF2B Gene

Genomics for MEF2B Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH19J019191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.4 -370 4.2 BCLAF1 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 SIX5 ZNF580 POLR2A BORCS8 BORCS8-MEF2B MEF2B RFXANK NONHSAG025168.2 lnc-BORCS8-1 ENSG00000268030 ATP13A1 MAU2 NR2C2AP
GH19J018587 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37.1 +602.7 602705 3.7 BCLAF1 ZNF207 MYC IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 POLR2A CEBPA REX1BD HSALNG0124646 piR-57461-107 ENSG00000268030 UPF1 MAU2 NR2C2AP ENSG00000268938 IQCN ENSG00000269191
GH19J018289 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.7 +899.9 899895 6.1 BCLAF1 SP1 MYC NCOR1 IKZF1 ZNF600 ZNF580 ZNF592 ZMYM3 ATF2 HSALNG0124607 HSALNG0124608 ENSG00000268030 IQCN NR2C2AP UPF1 COLGALT1 ENSG00000268938 PGLS-DT SUGP2
GH19J018372 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.7 +811.0 811031 18 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 MYC IKZF1 SSRP1 JUND ZNF580 GDF15 ENSG00000268030 NR2C2AP IQCN UPF1 ENSG00000268938 MAU2 ENSG00000269191 COLGALT1 MEF2B
GH19J019031 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 20.4 +158.7 158730 3.2 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF592 KLF9 POLR2A CEBPA ZSCAN16 ARMC6 SUGP2 HSALNG0124686 ATP13A1 ENSG00000268030 UPF1 TMEM161A ENSG00000268938 MAU2 ENSG00000267481
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEF2B

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

Genomic Locations for MEF2B Gene

Latest Assembly
chr19:19,145,567-19,192,131
(GRCh38/hg38)
Size:
46,565 bases
Orientation:
Minus strand

Previous Assembly
chr19:19,256,376-19,281,072
(GRCh37/hg19 by Entrez Gene)
Size:
24,697 bases
Orientation:
Minus strand

chr19:19,256,377-19,303,400
(GRCh37/hg19 by Ensembl)
Size:
47,024 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

InterPro:
Blocks:
  • Transcription factor, MADS-box

Suggested Antigen Peptide Sequences for MEF2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32648 fis, clone SYNOV2001451, highly similar to MYOCYTE-SPECIFIC ENHANCER FACTOR 2B (B3KQ23_HUMAN)
  • Serum response factor-like protein 2 (MEF2B_HUMAN)

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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 7760790
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 7760790
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with MEF2B: view
genes like me logo Genes that share phenotypes with MEF2B: view

Animal Models for MEF2B Gene

MGI Knock Outs for MEF2B:
  • Mef2b Mef2b<tm2b(EUCOMM)Hmgu>
  • Mef2b Mef2b<tm2Rdf>
Targeted motifs for MEF2B Gene
HOMER Transcription Factor Regulatory Elements motif MEF2B
  • Consensus sequence: GCTATTTTTGGM Submotif: canonical Cell Type: HEK293 GEO ID: GSE67450

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,TAS 1516833
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IDA 15567413
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MEF2B: view

Pathways & Interactions for MEF2B Gene

PathCards logo

SuperPathways for MEF2B Gene

SuperPathway Contained pathways
1 Myogenesis
1.00
2 Immune response Function of MEF2 in T lymphocytes
.36
.36
3 Apelin signaling pathway
4 cGMP-PKG signaling pathway
5 Developmental Biology
genes like me logo Genes that share pathways with MEF2B: view

Pathways by source for MEF2B Gene

2 KEGG pathways for MEF2B Gene
5 GeneGo (Thomson Reuters) pathways for MEF2B Gene
  • 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 Activation of PKC via G-Protein coupled receptor
  • Signal transduction Calcium signaling
  • Signal transduction IP3 signaling

Gene Ontology (GO) - Biological Process for MEF2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007517 muscle organ development TAS 1516833
GO:0030154 cell differentiation IBA 21873635
GO:0045944 positive regulation of transcription by RNA polymerase II IEA,IDA 7760790
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

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Nervous system(4.4)
  • Heart(4.4)
  • Spleen(4.3)
  • Lymph node(2.3)
genes like me logo Genes that share expression patterns with MEF2B: view

Primer products for research

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 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MEF2B 29 30
  • 87.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MEF2B 29 30
  • 83.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mef2b 29 16 30
  • 75.19 (n)
OneToMany
2310045N01Rik 30
  • 72 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mef2b 29
  • 74.37 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 58 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 56 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MEF2B 29
  • 65.9 (n)
-- 30
  • 54 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii mef2b 29 30
  • 55.02 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mef-2 30 31
  • 32 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMP1 30
  • 14 (a)
ManyToMany
RLM1 30
  • 11 (a)
ManyToMany
Species where no ortholog for MEF2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for MEF2B

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEF2B Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs151213204 Benign: not provided 19,147,124(-) G/T
NM_001145785.2(MEF2B):c.453C>A (p.Gly151=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MEF2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
MEF2B

SNP Genotyping and Copy Number Assays for research

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

Disorders for MEF2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for MEF2B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
mantle cell lymphoma
  • lymphoma, mantle cell
- elite association - COSMIC cancer census association via MalaCards
Search MEF2B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MEF2B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MEF2B: view

No data available for 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
  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 40
  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
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MEF2B Gene

  • Boster Bio Antibodies for MEF2B
  • Boster Bio ELISA Kits for MEF2B

Sources for MEF2B Gene