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Aliases for MEF2D Gene

Aliases for MEF2D Gene

  • Myocyte Enhancer Factor 2D 2 3

External Ids for MEF2D Gene

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. Diseases associated with MEF2D include lymphoblastic leukemia. Among its related pathways are L1CAM interactions and Akt Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and histone deacetylase binding. An important paralog of this gene is MEF2BNB-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

Genomic Location for MEF2D Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MEF2D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEF2D Gene

Regulatory Elements 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.

    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. Deacetylated by SIRT1.
  • 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
  • Ubiquitination at Lys64 and Lys68

Other Protein References for MEF2D Gene

No data available for DME Specific Peptides for MEF2D Gene

Domains for MEF2D Gene

Gene Families for MEF2D Gene

HGNC:
  • MEF2 :Myocyte enhancer factors

Protein Domains for MEF2D Gene

UniProtKB/Swiss-Prot:

MEF2D_HUMAN
Domain:
  • The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity:
    • Q14814
  • Contains 1 MADS-box domain.:
    • Q14814
  • Contains 1 Mef2-type DNA-binding domain.:
    • Q14814
Family:
  • Belongs to the MEF2 family.:
    • Q14814
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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 20590529
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 20590529
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 8575763
GO:0005515 protein binding IPI 16043483
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription 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

Gene Ontology (GO) - Cellular Components for MEF2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20590529
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MEF2D: view

Pathways for MEF2D Gene

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

Gene Ontology (GO) - Biological Process for MEF2D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001958 endochondral ossification IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with MEF2D: view

Compounds for MEF2D Gene

(3) Novoseek inferred chemical compound relationships for MEF2D Gene

Compound -log(P) Hits PubMed IDs
glycogen 37.9 2
glucose 20.6 2
calcium 0 1
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (4.3).

Integrated Proteomics: protein expression 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 expressions with MEF2D: view

Orthologs for MEF2D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MEF2D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEF2D 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEF2D 36
  • 93.43 (n)
  • 95.86 (a)
MEF2D 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEF2D 36
  • 88.21 (n)
  • 93.08 (a)
MEF2D 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mef2d 36
  • 91.06 (n)
  • 95.86 (a)
Mef2d 16
Mef2d 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MEF2D 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEF2D 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mef2d 36
  • 90.73 (n)
  • 95.86 (a)
chicken
(Gallus gallus)
Aves MEF2D 36
  • 75.2 (n)
  • 79.53 (a)
MEF2D 37
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19991 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mef2d 36
  • 73.37 (n)
  • 79.26 (a)
Str.7341 36
zebrafish
(Danio rerio)
Actinopterygii mef2d 36
  • 69.22 (n)
  • 71.03 (a)
mef2d 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mef2 37
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mef-2 38
  • 74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLM1 37
  • 17 (a)
ManyToMany
SMP1 37
  • 19 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.4153 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs746527 -- 156,490,719(-) CAGCG(A/G)AAGCT upstream-variant-2KB, intron-variant
rs947660 -- 156,490,516(-) TCCCC(A/T)GTCGG utr-variant-5-prime, intron-variant
rs1050316 -- 156,464,911(+) TAATG(G/T)TGGGA utr-variant-3-prime
rs1109751 -- 156,469,208(-) TTATT(A/G)TGACT intron-variant
rs1171548 -- 156,502,206(+) CCACC(G/T)CGCCC upstream-variant-2KB

Relevant External Links for MEF2D Gene

HapMap Linkage Disequilibrium report
MEF2D

No data available for Structural Variations from Database of Genomic Variants (DGV) for MEF2D Gene

Disorders for MEF2D Gene

(1) MalaCards Diseases for MEF2D Gene

Search for MEF2D Gene in MalaCards »

Relevant External Links for MEF2D

Genetic Association Database (GAD)
MEF2D
Human Genome Epidemiology (HuGE) Navigator
MEF2D
genes like me logo Genes that share disorders with MEF2D: view

No data available for UniProtKB/Swiss-Prot 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
  2. Big mitogen-activated kinase regulates multiple members of the MEF2 protein family. (PMID: 10849446) Kato Y. … Lee J.D. (J. Biol. Chem. 2000) 3 4 23
  3. Control of MEF2 transcriptional activity by coordinated phosphorylation and sumoylation. (PMID: 16356933) Gregoire S. … Yang X.-J. (J. Biol. Chem. 2006) 3 4 23
  4. 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
  5. Regulation of neuronal survival factor MEF2D by chaperone-mediated autophagy. (PMID: 19119233) Yang Q. … Mao Z. (Science 2009) 3 23

Products for MEF2D Gene

Sources for MEF2D Gene

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