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Aliases for MEF2D Gene

Aliases for MEF2D Gene

  • Myocyte Enhancer Factor 2D 2 3 5

External Ids for MEF2D Gene

Previous GeneCards Identifiers for MEF2D Gene

  • GC01M154302
  • GC01M152201
  • GC01M153213
  • GC01M153650
  • GC01M153246
  • GC01M154700
  • GC01M156433
  • GC01M127793

Summaries for MEF2D Gene

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. Among its related pathways are Developmental Biology and CDO in myogenesis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is BORCS8-MEF2B.

UniProtKB/Swiss-Prot for MEF2D Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEF2D Gene

Genomics for MEF2D Gene

Regulatory Elements for MEF2D Gene

Promoters for MEF2D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MEF2D on UCSC Golden Path with GeneCards custom track

Genomic Location for MEF2D Gene

Chromosome:
1
Start:
156,463,721 bp from pter
End:
156,500,842 bp from pter
Size:
37,122 bases
Orientation:
Minus strand

Genomic View for MEF2D Gene

Genes around MEF2D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEF2D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEF2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEF2D Gene

Proteins for MEF2D Gene

  • Protein details for MEF2D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14814-MEF2D_HUMAN
    Recommended name:
    Myocyte-specific enhancer factor 2D
    Protein Accession:
    Q14814
    Secondary Accessions:
    • D3DVC0
    • Q14815
    • Q5T9U5
    • Q5T9U6

    Protein attributes for MEF2D Gene

    Size:
    521 amino acids
    Molecular mass:
    55938 Da
    Quaternary structure:
    • 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. Interacts with MAPK7; the interaction phosphorylates but does not activate MEF2D (By similarity). Interacts with CCAR2 and HDAC3.

    Alternative splice isoforms for MEF2D Gene

neXtProt entry for MEF2D Gene

Proteomics data for MEF2D Gene at MOPED

Post-translational modifications for MEF2D Gene

  • Acetylated on Lys-439 by CREBBP. Acetylated by EP300. Deacetylated by SIRT1 and HDAC3.
  • 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 CaMK4.
  • 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).
  • Sumoylated on Lys-439 with SUMO2 but not SUMO1; which inhibits transcriptional activity and myogenic activity. Desumoylated by SENP3.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MEF2D Gene

No data available for DME Specific Peptides for MEF2D Gene

Domains & Families for MEF2D Gene

Protein Domains for MEF2D Gene

Suggested Antigen Peptide Sequences for MEF2D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14814

UniProtKB/Swiss-Prot:

MEF2D_HUMAN :
  • The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.
  • Belongs to the MEF2 family.
Domain:
  • The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.
  • 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 MEF2D: view

Function for MEF2D Gene

Molecular function for MEF2D Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for MEF2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 20590529
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0005515 protein binding IPI 16043483
GO:0033613 activating transcription factor binding IPI 20590529
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with MEF2D: view
genes like me logo Genes that share phenotypes with MEF2D: view

Animal Models for MEF2D Gene

MGI Knock Outs for MEF2D:

Animal Model Products

miRNA for MEF2D Gene

miRTarBase miRNAs that target MEF2D
Targeted motifs for MEF2D Gene
HOMER Transcription Factor Regulatory Elements motif MEF2D
  • Consensus sequence: GCTATTTTTAGC Submotif: canonical Cell Type: Retina GEO ID: GSE61391

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for MEF2D Gene

Localization for MEF2D Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEF2D Gene

Nucleus. Note=Translocated by HDAC4 to nuclear dots.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEF2D Gene COMPARTMENTS Subcellular localization image for MEF2D gene
Compartment Confidence
nucleus 5
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MEF2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MEF2D: view

Pathways & Interactions for MEF2D Gene

genes like me logo Genes that share pathways with MEF2D: view

SIGNOR curated interactions for MEF2D Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MEF2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001958 endochondral ossification IEA --
GO:0006915 apoptotic process IEA --
GO:0007517 muscle organ development TAS 8269842
GO:0035914 skeletal muscle cell differentiation IEA --
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MEF2D: view

Drugs & Compounds for MEF2D Gene

(1) Drugs for MEF2D Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MEF2D Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MEF2D: view

Transcripts for MEF2D Gene

Unigene Clusters for MEF2D Gene

Myocyte enhancer factor 2D:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEF2D Gene

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: - - -
SP6: -
SP7: -
SP8:
SP9:

Relevant External Links for MEF2D Gene

GeneLoc Exon Structure for
MEF2D
ECgene alternative splicing isoforms for
MEF2D

Expression for MEF2D Gene

mRNA expression in normal human tissues for MEF2D Gene

mRNA differential expression in normal tissues according to GTEx for MEF2D Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for MEF2D Gene

This gene is overexpressed in Retina (14.8), Peripheral blood mononuclear cells (11.5), CD8 Tcells (9.9), and NK cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MEF2D Gene



SOURCE GeneReport for Unigene cluster for MEF2D Gene Hs.314327

genes like me logo Genes that share expression patterns with MEF2D: view

Protein tissue co-expression partners for MEF2D Gene

- Elite partner

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MEF2D Gene

Orthologs for MEF2D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MEF2D Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MEF2D 35
  • 93.43 (n)
  • 95.86 (a)
MEF2D 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEF2D 35
  • 88.21 (n)
  • 93.08 (a)
MEF2D 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mef2d 35
  • 91.06 (n)
  • 95.86 (a)
Mef2d 16
Mef2d 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mef2d 35
  • 90.73 (n)
  • 95.86 (a)
oppossum
(Monodelphis domestica)
Mammalia MEF2D 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEF2D 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MEF2D 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEF2D 35
  • 75.2 (n)
  • 79.53 (a)
MEF2D 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mef2d 35
  • 73.37 (n)
  • 79.26 (a)
Str.7341 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.19991 35
zebrafish
(Danio rerio)
Actinopterygii mef2d 35
  • 69.22 (n)
  • 71.03 (a)
mef2d 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mef2 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mef-2 37
  • 74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLM1 36
  • 17 (a)
ManyToMany
SMP1 36
  • 19 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.4153 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 96 (a)
OneToMany
Species with no ortholog for MEF2D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MEF2D Gene

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

Paralogs for MEF2D Gene

Paralogs for MEF2D Gene

(7) SIMAP similar genes for MEF2D Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MEF2D: view

Variants for MEF2D Gene

Sequence variations from dbSNP and Humsavar for MEF2D Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2274315 - 156,468,247(+) GTGGG(A/G)GTGGG reference, missense
rs746527 -- 156,490,719(-) CAGCG(A/G)AAGCT intron-variant, upstream-variant-2KB
rs947660 -- 156,490,516(-) TCCCC(A/T)GTCGG intron-variant, utr-variant-5-prime
rs1109751 -- 156,469,208(-) TTATT(A/G)TGACT intron-variant
rs1171548 -- 156,502,206(+) CCACC(G/T)CGCCC upstream-variant-2KB

Variation tolerance for MEF2D Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEF2D Gene

HapMap Linkage Disequilibrium report
MEF2D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MEF2D Gene

Disorders for MEF2D Gene

Relevant External Links for MEF2D

Genetic Association Database (GAD)
MEF2D
Human Genome Epidemiology (HuGE) Navigator
MEF2D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEF2D

No disorders were found for MEF2D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MEF2D Gene

Publications for MEF2D Gene

  1. A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage. (PMID: 8269842) Breitbart R.E. … Nadal-Ginard B. (Development 1993) 2 3 4 23 67
  2. Regulation of neuronal survival factor MEF2D by chaperone-mediated autophagy. (PMID: 19119233) Yang Q. … Mao Z. (Science 2009) 3 23
  3. Histone deacetylase 3 interacts with and deacetylates myocyte enhancer factor 2. (PMID: 17158926) GrAcgoire S. … Yang X.J. (Mol. Cell. Biol. 2007) 3 23
  4. Control of MEF2 transcriptional activity by coordinated phosphorylation and sumoylation. (PMID: 16356933) Gregoire S. … Yang X.-J. (J. Biol. Chem. 2006) 3 23
  5. Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia. (PMID: 15744350) Prima V. … Hunger S.P. (Leukemia 2005) 3 23

Products for MEF2D Gene

Sources for MEF2D Gene

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