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Aliases for MEF2A Gene

Aliases for MEF2A Gene

  • Myocyte Enhancer Factor 2A 2 3 5
  • Serum Response Factor-Like Protein 1 3 4
  • Mef2 3 4
  • MADS Box Transcription Enhancer Factor 2, Polypeptide A (Myocyte Enhancer Factor 2A) 3
  • ADCAD1 3
  • RSRFC4 3
  • RSRFC9 3

External Ids for MEF2A Gene

Previous GeneCards Identifiers for MEF2A Gene

  • GC15P096823
  • GC15P093977
  • GC15P097698
  • GC15P097841
  • GC15P097874
  • GC15P097923
  • GC15P100107
  • GC15P076235

Summaries for MEF2A Gene

Entrez Gene Summary for MEF2A Gene

  • The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

GeneCards Summary for MEF2A Gene

MEF2A (Myocyte Enhancer Factor 2A) is a Protein Coding gene. Diseases associated with MEF2A include Coronary Artery Disease, Autosomal Dominant, 1 and Mef2a-Related Coronary Artery Disease Susceptibility. Among its related pathways are MyD88 cascade initiated on plasma membrane and CNTF Signaling. 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 MEF2A Gene

  • Transcriptional activator which binds specifically to the MEF2 element, 5-YTA[AT](4)TAR-3, found in numerous muscle-specific genes. Also involved in the activation of numerous 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. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.

Gene Wiki entry for MEF2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEF2A Gene

Genomics for MEF2A Gene

Regulatory Elements for MEF2A Gene

Enhancers for MEF2A 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 MEF2A on UCSC Golden Path with GeneCards custom track

Promoters for MEF2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MEF2A on UCSC Golden Path with GeneCards custom track

Genomic Location for MEF2A Gene

Chromosome:
15
Start:
99,565,417 bp from pter
End:
99,716,483 bp from pter
Size:
151,067 bases
Orientation:
Plus strand

Genomic View for MEF2A Gene

Genes around MEF2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEF2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEF2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEF2A Gene

Proteins for MEF2A Gene

  • Protein details for MEF2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02078-MEF2A_HUMAN
    Recommended name:
    Myocyte-specific enhancer factor 2A
    Protein Accession:
    Q02078
    Secondary Accessions:
    • B4DFQ7
    • F6XG23
    • O43814
    • Q14223
    • Q14224
    • Q59GX4
    • Q7Z6C9
    • Q96D14

    Protein attributes for MEF2A Gene

    Size:
    507 amino acids
    Molecular mass:
    54811 Da
    Quaternary structure:
    • Binds DNA as a homo- or heterodimer. Dimerizes with MEF2D. Interacts with HDAC7 (By similarity). Interacts with PIAS1; the interaction enhances sumoylation. Interacts with HDAC4, HDAC9 and SLC2A4RG. Interacts (via the N-terminal) with MAPK7; the interaction results in the phosphorylation and transcriptional activity of MEF2A.
    SequenceCaution:
    • Sequence=AAH53871.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD92222.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MEF2A Gene

    Alternative splice isoforms for MEF2A Gene

neXtProt entry for MEF2A Gene

Proteomics data for MEF2A Gene at MOPED

Post-translational modifications for MEF2A Gene

  • Acetylation on Lys-403 activates transcriptional activity. Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity). Hyperacetylation by p300 leads to enhanced cardiac myocyte growth and heart failure.
  • Constitutive phosphorylation on Ser-408 promotes Lys-403 sumoylation thus preventing acetylation at this site. Dephosphorylation on Ser-408 by PPP3CA upon neuron depolarization promotes a switch from sumoylation to acetylation on residue Lys-403 leading to inhibition of dendrite claw differentiation. Phosphorylation on Thr-312 and Thr-319 are the main sites involved in p38 MAPK signaling and activate transcription. Phosphorylated on these sites by MAPK14/p38alpha and MAPK11/p38beta, but not by MAPK13/p38delta nor by MAPK12/p38gamma. Phosphorylation on Ser-408 by CDK5 induced by neurotoxicity inhibits MEF2A transcriptional activation leading to apoptosis of cortical neurons. Phosphorylation on Thr-312, Thr-319 and Ser-355 can be induced by EGF.
  • Proteolytically cleaved in cerebellar granule neurons on several sites by caspase 3 and caspase 7 following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.
  • Sumoylation on Lys-403 is enhanced by PIAS1 and represses transcriptional activity. Phosphorylation on Ser-408 is required for sumoylation. Has no effect on nuclear location nor on DNA binding. Sumoylated with SUMO1 and, to a lesser extent with SUMO2 and SUMO3. PIASx facilitates sumoylation in postsynaptic dendrites in the cerebellar cortex and promotes their morphogenesis (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MEF2A Gene

Domains & Families for MEF2A Gene

Protein Domains for MEF2A Gene

Graphical View of Domain Structure for InterPro Entry

Q02078

UniProtKB/Swiss-Prot:

MEF2A_HUMAN :
  • Contains 1 MADS-box domain.
  • Belongs to the MEF2 family.
Domain:
  • 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 MEF2A: view

Function for MEF2A Gene

Molecular function for MEF2A Gene

GENATLAS Biochemistry:
myocyte-specific enhancer binding factor 2A,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 genes. Also involved in the activation of numerous 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. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.

Gene Ontology (GO) - Molecular Function for MEF2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 7760790
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 7760790
GO:0001105 RNA polymerase II transcription coactivator activity IDA 15466416
GO:0003682 chromatin binding IDA 21468593
GO:0033613 activating transcription factor binding IPI 20590529
genes like me logo Genes that share ontologies with MEF2A: view
genes like me logo Genes that share phenotypes with MEF2A: view

Animal Models for MEF2A Gene

MGI Knock Outs for MEF2A:

Animal Model Products

Transcription Factor Targets for MEF2A Gene

Selected GeneGlobe predicted Target genes for MEF2A
Targeted motifs for MEF2A Gene
HOMER Transcription Factor Regulatory Elements motif MEF2A
  • Consensus sequence: CCAAAAATAG Submotif: canonical Cell Type: HL1 GEO ID: GSE21529

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for MEF2A Gene

Localization for MEF2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEF2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEF2A Gene COMPARTMENTS Subcellular localization image for MEF2A gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MEF2A Gene

Pathways & Interactions for MEF2A Gene

genes like me logo Genes that share pathways with MEF2A: view

SIGNOR curated interactions for MEF2A Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for MEF2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance ISS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 16484498
GO:0000165 MAPK cascade IDA 9858528
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MEF2A: view

Drugs & Compounds for MEF2A Gene

(16) Drugs for MEF2A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for MEF2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MEF2A: view

Transcripts for MEF2A Gene

Unigene Clusters for MEF2A Gene

Myocyte enhancer factor 2A:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEF2A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - -
SP11: - - - - -
SP12: - - - -

ExUns: 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MEF2A Gene

GeneLoc Exon Structure for
MEF2A
ECgene alternative splicing isoforms for
MEF2A

Expression for MEF2A Gene

mRNA expression in normal human tissues for MEF2A Gene

Protein differential expression in normal tissues from HIPED for MEF2A Gene

This gene is overexpressed in Pancreas (23.8), Peripheral blood mononuclear cells (20.3), Blymphocyte (16.1), and Fetal heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MEF2A Gene



SOURCE GeneReport for Unigene cluster for MEF2A Gene Hs.268675

mRNA Expression by UniProt/SwissProt for MEF2A Gene

Q02078-MEF2A_HUMAN
Tissue specificity: Isoform MEF2 and isoform MEFA are expressed only in skeletal and cardiac muscle and in the brain. Isoform RSRFC4 and isoform RSRFC9 are expressed in all tissues examined.
genes like me logo Genes that share expression patterns with MEF2A: view

Protein tissue co-expression partners for MEF2A Gene

Primer Products

No data available for mRNA differential expression in normal tissues for MEF2A Gene

Orthologs for MEF2A Gene

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

Orthologs for MEF2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MEF2A 35
  • 88.91 (n)
  • 89.8 (a)
MEF2A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEF2A 35
  • 89.34 (n)
  • 90.63 (a)
MEF2A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mef2a 35
  • 91.09 (n)
  • 96.33 (a)
Mef2a 16
Mef2a 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MEF2A 35
  • 99.73 (n)
  • 99.8 (a)
MEF2A 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mef2a 35
  • 86.07 (n)
  • 89.66 (a)
oppossum
(Monodelphis domestica)
Mammalia MEF2A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEF2A 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEF2A 35
  • 82.45 (n)
  • 90 (a)
gga-mir-1737 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEF2A 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mef2a-prov 35
zebrafish
(Danio rerio)
Actinopterygii mef2a 35
mef2aa 35
  • 71.58 (n)
  • 80.22 (a)
MEF2A (2 of 2) 36
  • 69 (a)
OneToMany
mef2aa 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mef2 37
  • 42 (a)
Mef2 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mef-2 37
  • 81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLM1 36
  • 17 (a)
ManyToMany
SMP1 36
  • 19 (a)
ManyToMany
SMP1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 97 (a)
OneToMany
Species with no ortholog for MEF2A:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MEF2A Gene

ENSEMBL:
Gene Tree for MEF2A (if available)
TreeFam:
Gene Tree for MEF2A (if available)

Paralogs for MEF2A Gene

Paralogs for MEF2A Gene

Pseudogenes.org Pseudogenes for MEF2A Gene

genes like me logo Genes that share paralogs with MEF2A: view

Variants for MEF2A Gene

Sequence variations from dbSNP and Humsavar for MEF2A Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121918530 - 99,690,352(+) TGGTA(A/G)TCTTG nc-transcript-variant, reference, missense
rs121918529 - 99,690,400(+) CCCCC(C/T)TTCAA nc-transcript-variant, reference, missense
VAR_038409 -
rs167805 -- 99,708,852(-) tgtac(A/G)ggcac intron-variant
rs170521 -- 99,705,984(-) TAAGA(C/T)AGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEF2A Gene

Variant ID Type Subtype PubMed ID
nsv904546 CNV Gain 21882294
nsv904558 CNV Gain 21882294
esv269842 CNV Insertion 20981092
esv2500079 CNV Deletion 19546169
nsv513438 CNV Insertion 21212237
nsv904559 CNV Loss 21882294
nsv904560 CNV Loss 21882294
nsv904561 CNV Gain 21882294
nsv904562 CNV Loss 21882294
nsv428313 CNV Gain 18775914
nsv904563 CNV Loss 21882294
nsv904564 CNV Gain 21882294

Variation tolerance for MEF2A Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEF2A Gene

Human Gene Mutation Database (HGMD)
MEF2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEF2A Gene

Disorders for MEF2A Gene

MalaCards: The human disease database

(9) MalaCards diseases for MEF2A Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coronary artery disease, autosomal dominant, 1
  • coronary artery disease with myocardial infarction
mef2a-related coronary artery disease susceptibility
  • coronary artery disease, autosomal dominant, 1
artery disease
  • arteriopathic disease
coronary artery disease
  • chronic myocardial ischemia
myocardial infarction
  • myocardial infarction, protection against
- elite association - COSMIC cancer census association via MalaCards
Search MEF2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEF2A_HUMAN
  • Coronary artery disease, autosomal dominant, 1 (ADCAD1) [MIM:608320]: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MEF2A

Genetic Association Database (GAD)
MEF2A
Human Genome Epidemiology (HuGE) Navigator
MEF2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEF2A
genes like me logo Genes that share disorders with MEF2A: view

No data available for Genatlas for MEF2A Gene

Publications for MEF2A Gene

  1. Transcription factor MEF2A mutations in patients with coronary artery disease. (PMID: 15496429) Bhagavatula M.R.K. … Wang Q. (Hum. Mol. Genet. 2004) 3 4 23 48 67
  2. Human myocyte-specific enhancer factor 2 comprises a group of tissue- restricted MADS box transcription factors. (PMID: 1516833) Yu Y.-T. … Nadal-Ginard B. (Genes Dev. 1992) 2 3 23
  3. Transcriptional induction of MMP-10 by TGF-beta, mediated by activation of MEF2A and downregulation of class IIa HDACs. (PMID: 19935709) Ishikawa F. … Shibanuma M. (Oncogene 2010) 3 23
  4. Regulatory polymorphism in transcription factor KLF5 at the MEF2 element alters the response to angiotensin II and is associated with human hypertension. (PMID: 20086047) Oishi Y. … Nagai R. (FASEB J. 2010) 3 23
  5. Structure of the MADS-box/MEF2 domain of MEF2A bound to DNA and its implication for myocardin recruitment. (PMID: 20132824) Wu Y. … Chen L. (J. Mol. Biol. 2010) 3 23

Products for MEF2A Gene

Sources for MEF2A Gene

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