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Aliases for MEF2C Gene

Aliases for MEF2C Gene

  • Myocyte Enhancer Factor 2C 2 3 5
  • MADS Box Transcription Enhancer Factor 2, Polypeptide C 3
  • C5DELq14.3 3
  • DEL5q14.3 3

External Ids for MEF2C Gene

Previous GeneCards Identifiers for MEF2C Gene

  • GC05M087047
  • GC05M088304
  • GC05M088052
  • GC05M088100
  • GC05M088098
  • GC05M088051
  • GC05M083218
  • GC05M088013

Summaries for MEF2C Gene

Entrez Gene Summary for MEF2C Gene

  • This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

GeneCards Summary for MEF2C Gene

MEF2C (Myocyte Enhancer Factor 2C) is a Protein Coding gene. Diseases associated with MEF2C include Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations and 5Q14.3 Microdeletion Syndrome. Among its related pathways are MyD88 cascade initiated on plasma membrane and Endochondral Ossification. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is BORCS8-MEF2B.

UniProtKB/Swiss-Prot for MEF2C Gene

  • Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.

Gene Wiki entry for MEF2C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEF2C Gene

Genomics for MEF2C Gene

Regulatory Elements for MEF2C Gene

Enhancers for MEF2C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MEF2C on UCSC Golden Path with GeneCards custom track

Genomic Location for MEF2C Gene

Chromosome:
5
Start:
88,717,117 bp from pter
End:
88,904,257 bp from pter
Size:
187,141 bases
Orientation:
Minus strand

Genomic View for MEF2C Gene

Genes around MEF2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEF2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEF2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEF2C Gene

Proteins for MEF2C Gene

  • Protein details for MEF2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06413-MEF2C_HUMAN
    Recommended name:
    Myocyte-specific enhancer factor 2C
    Protein Accession:
    Q06413
    Secondary Accessions:
    • C9JMZ0
    • D7F7N5
    • F8W7V7

    Protein attributes for MEF2C Gene

    Size:
    473 amino acids
    Molecular mass:
    51221 Da
    Quaternary structure:
    • 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 EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation. Interacts with HDAC7 and CARM1 (By similarity). Interacts with HDAC4, HDAC7 AND HDAC9; the interaction WITH HDACs represses transcriptional activity. Interacts with MYOCD (By similarity).

    Alternative splice isoforms for MEF2C Gene

neXtProt entry for MEF2C Gene

Proteomics data for MEF2C Gene at MOPED

Post-translational modifications for MEF2C Gene

  • Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity).
  • Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.
  • Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.
  • Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MEF2C Gene

Domains & Families for MEF2C Gene

Protein Domains for MEF2C Gene

Suggested Antigen Peptide Sequences for MEF2C Gene

Graphical View of Domain Structure for InterPro Entry

Q06413

UniProtKB/Swiss-Prot:

MEF2C_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 MEF2C: view

Function for MEF2C Gene

Molecular function for MEF2C Gene

GENATLAS Biochemistry:
myocyte-specific enhancer binding factor 2C,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 brain,activated by PRKM7
UniProtKB/Swiss-Prot Function:
Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.

Gene Ontology (GO) - Molecular Function for MEF2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0033613 activating transcription factor binding IPI 11160896
genes like me logo Genes that share ontologies with MEF2C: view
genes like me logo Genes that share phenotypes with MEF2C: view

Human Phenotype Ontology for MEF2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEF2C Gene

MGI Knock Outs for MEF2C:
Targeted motifs for MEF2C Gene
HOMER Transcription Factor Regulatory Elements motif MEF2C
  • Consensus sequence: DCYAAAAATAGM Submotif: canonical Cell Type: GM12878 GEO ID: GSE32465

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for MEF2C Gene

Localization for MEF2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEF2C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEF2C Gene COMPARTMENTS Subcellular localization image for MEF2C gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MEF2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MEF2C: view

Pathways & Interactions for MEF2C Gene

genes like me logo Genes that share pathways with MEF2C: view

SIGNOR curated interactions for MEF2C Gene

Gene Ontology (GO) - Biological Process for MEF2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 18079734
GO:0000165 MAPK cascade IMP 11160896
GO:0001568 blood vessel development ISS --
GO:0001649 osteoblast differentiation ISS --
GO:0001764 neuron migration ISS --
genes like me logo Genes that share ontologies with MEF2C: view

Drugs & Compounds for MEF2C Gene

(2) Drugs for MEF2C Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MEF2C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MEF2C: view

Transcripts for MEF2C Gene

Unigene Clusters for MEF2C Gene

Myocyte enhancer factor 2C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEF2C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for MEF2C Gene

GeneLoc Exon Structure for
MEF2C
ECgene alternative splicing isoforms for
MEF2C

Expression for MEF2C Gene

mRNA expression in normal human tissues for MEF2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEF2C Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.0), Muscle - Skeletal (x6.0), Brain - Anterior cingulate cortex (BA24) (x5.0), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for MEF2C Gene

This gene is overexpressed in Stomach (27.0), Peripheral blood mononuclear cells (18.9), Fetal Brain (13.7), and Blymphocyte (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MEF2C Gene



SOURCE GeneReport for Unigene cluster for MEF2C Gene Hs.649965

mRNA Expression by UniProt/SwissProt for MEF2C Gene

Q06413-MEF2C_HUMAN
Tissue specificity: Expressed in brain and skeletal muscle.
genes like me logo Genes that share expression patterns with MEF2C: view

Protein tissue co-expression partners for MEF2C Gene

Primer Products

Orthologs for MEF2C Gene

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

Orthologs for MEF2C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MEF2C 35
  • 93.04 (n)
  • 93.97 (a)
MEF2C 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEF2C 35
  • 97.7 (n)
  • 100 (a)
MEF2C 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mef2c 35
  • 91.22 (n)
  • 93.74 (a)
Mef2c 16
Mef2c 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MEF2C 35
  • 99.78 (n)
  • 100 (a)
MEF2C 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mef2c 35
  • 90.86 (n)
  • 94.38 (a)
oppossum
(Monodelphis domestica)
Mammalia MEF2C 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEF2C 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEF2C 35
  • 88.41 (n)
  • 93.74 (a)
MEF2C 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEF2C 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mef2c 35
  • 83.95 (n)
  • 90.47 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mef2cb 35
  • 75.35 (n)
  • 78.62 (a)
mef2ca 36
  • 73 (a)
OneToMany
mef2cb 36
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007608 35
  • 53.52 (n)
  • 47.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mef2 35
  • 52.48 (n)
  • 48.98 (a)
Mef2 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLM1 36
  • 16 (a)
ManyToMany
SMP1 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 96 (a)
OneToMany
Species with no ortholog for MEF2C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for MEF2C Gene

ENSEMBL:
Gene Tree for MEF2C (if available)
TreeFam:
Gene Tree for MEF2C (if available)

Paralogs for MEF2C Gene

Paralogs for MEF2C Gene

genes like me logo Genes that share paralogs with MEF2C: view

Variants for MEF2C Gene

Sequence variations from dbSNP and Humsavar for MEF2C Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs12246 -- 88,718,522(+) AATGG(A/T)AACAA utr-variant-3-prime
rs768348 -- 88,785,159(+) AGACT(C/T)GTATA intron-variant
rs770189 -- 88,792,622(-) atata(C/G)aacag intron-variant
rs770525 -- 88,827,733(+) CATCG(A/T)ACACA intron-variant
rs797419 -- 88,873,138(-) ACAAG(G/T)TCAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEF2C Gene

Variant ID Type Subtype PubMed ID
esv4987 CNV Deletion 18987735
esv2730446 CNV Deletion 23290073
esv5444 CNV Loss 19470904
esv993574 CNV Deletion 20482838
esv1049510 CNV Deletion 17803354
esv4948 CNV Deletion 18987735
esv1006875 CNV Deletion 20482838
esv2657453 CNV Deletion 23128226
esv1739252 CNV Deletion 17803354
esv2730447 CNV Deletion 23290073
nsv329625 CNV Loss 16902084
esv8549 CNV Loss 19470904
nsv471022 CNV Loss 18288195

Variation tolerance for MEF2C Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEF2C Gene

Human Gene Mutation Database (HGMD)
MEF2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEF2C Gene

Disorders for MEF2C Gene

MalaCards: The human disease database

(6) MalaCards diseases for MEF2C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
  • chromosome 5q14.3 deletion syndrome
5q14.3 microdeletion syndrome
  • chromosome 5q14.3 deletion syndrome
pitt-hopkins syndrome
  • intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
sost-related sclerosing bone dysplasia
  • smith-lemli-opitz syndrome
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MEF2C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEF2C_HUMAN
  • Mental retardation, autosomal dominant 20 (MRD20) [MIM:613443]: A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. {ECO:0000269 PubMed:19592390}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MEF2C

Genetic Association Database (GAD)
MEF2C
Human Genome Epidemiology (HuGE) Navigator
MEF2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEF2C
genes like me logo Genes that share disorders with MEF2C: view

No data available for Genatlas for MEF2C Gene

Publications for MEF2C Gene

  1. hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors. (PMID: 8455629) McDermott J.C. … Nadal-Ginard B. (Mol. Cell. Biol. 1993) 2 3 4 67
  2. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. (PMID: 19592390) Le Meur N. … Bonneau D. (J. Med. Genet. 2010) 3 23
  3. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. (PMID: 20513142) Zweier M. … Rauch A. (Hum. Mutat. 2010) 3 23
  4. Activation of ERK5 in angiotensin II-induced hypertrophy of human aortic smooth muscle cells. (PMID: 19011954) Zhao Z. … Kang W. (Mol. Cell. Biochem. 2009) 3 23
  5. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F. … Uitterlinden A.G. (Nat. Genet. 2009) 3 23

Products for MEF2C Gene

Sources for MEF2C Gene

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