Myocyte-specific enhancer factor 2A

Myocyte-specific enhancer factor 2A is a protein that in humans is encoded by the MEF2A gene.^[5][6] MEF2A is a transcription factor in the Mef2 family. In humans it is located on chromosome 15q26. Certain mutations in MEF2A cause an autosomal dominant form of coronary artery disease and myocardial infarction.

MEF2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1C7U, 1EGW, 1LEW, 3KOV, 3MU6, 3P57
Identifiers
Aliases	MEF2A, ADCAD1, RSRFC4, RSRFC9, mef2, myocyte enhancer factor 2A
External IDs	OMIM: 600660; MGI: 99532; HomoloGene: 4080; GeneCards: MEF2A; OMA:MEF2A - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q26.3 Start 99,565,417 bp[1] End 99,716,488 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 C|7 36.72 cM Start 67,231,163 bp[2] End 67,372,858 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon myocardium cardiac muscle tissue of right atrium right ventricle myocardium of left ventricle biceps brachii Skeletal muscle tissue of biceps brachii skin of thigh middle temporal gyrus tibia Top expressed in medial dorsal nucleus lateral geniculate nucleus lateral septal nucleus medial geniculate nucleus atrioventricular valve stroma of bone marrow right ventricle atrium cerebellar vermis ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding transcription coactivator activity DNA binding protein dimerization activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific histone deacetylase binding chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding histone acetyltransferase binding protein heterodimerization activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding SMAD binding protein kinase binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleoplasm nucleus cytosol Biological process cellular response to calcium ion cell differentiation regulation of transcription, DNA-templated mitochondrial genome maintenance dendrite morphogenesis positive regulation of muscle cell differentiation muscle organ development negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development ERK5 cascade multicellular organism development positive regulation of transcription, DNA-templated heart development cardiac conduction mitochondrion distribution ventricular cardiac myofibril assembly positive regulation of transcription by RNA polymerase II apoptotic process positive regulation of cardiac muscle hypertrophy transcription by RNA polymerase II MAPK cascade positive regulation of glucose import Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4205 17258 Ensembl ENSG00000068305 ENSMUSG00000030557 UniProt Q02078 Q60929 RefSeq (mRNA) NM_001130926 NM_001130927 NM_001130928 NM_001171894 NM_005587 NM_001319206 NM_001352614 NM_001352615 NM_001352616 NM_001352617 NM_001352618 NM_001365201 NM_001365202 NM_001365203 NM_001365204 NM_001365205 NM_001365206 NM_001365207 NM_001365208 NM_001365209 NM_001365210 NM_001365211 NM_001393558 NM_001393559 NM_001393560 NM_001393561 NM_001033713 NM_001291191 NM_001291192 NM_001291195 NM_001291196 NM_001357324 NM_001357325 RefSeq (protein) NP_001124398 NP_001124399 NP_001124400 NP_001165365 NP_001306135 NP_005578 NP_001339543 NP_001339544 NP_001339545 NP_001339546 NP_001339547 NP_001352130 NP_001352131 NP_001352132 NP_001352133 NP_001352134 NP_001352135 NP_001352136 NP_001352137 NP_001352138 NP_001352139 NP_001352140 NP_001028885 NP_001278120 NP_001278121 NP_001278124 NP_001278125 NP_001344253 NP_001344254 Location (UCSC) Chr 15: 99.57 – 99.72 Mb Chr 7: 67.23 – 67.37 Mb PubMed search [3] [4]
Wikidata
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Function

The process of differentiation from mesodermal precursor cells to myoblasts has led to the discovery of a variety of tissue-specific factors that regulate muscle gene expression. The myogenic basic helix-loop-helix proteins, including myoD (MIM 159970), myogenin (MIM 159980), MYF5 (MIM 159990), and MRF4 (MIM 159991) are 1 class of identified factors. A second family of DNA binding regulatory proteins is the myocyte-specific enhancer factor-2 (MEF2) family. Each of these proteins binds to the MEF2 target DNA sequence present in the regulatory regions of many, if not all, muscle-specific genes. The MEF2 genes are members of the MADS gene family (named for the yeast mating type-specific transcription factor MCM1, the plant homeotic genes 'agamous' and 'deficiens' and the human serum response factor SRF (MIM 600589)), a family that also includes several homeotic genes and other transcription factors, all of which share a conserved DNA-binding domain.[supplied by OMIM]^[6]

Interactions

Myocyte-specific enhancer factor 2A has been shown to interact with:

• ASCL1,^[7]
• EP300,^[8]
• HDAC4,^[9][10]
• HDAC9,^[9][10]
• Histone deacetylase 5,^[10]
• MAPK14,^[11][12]
• MEF2D,^[13]
• Mothers against decapentaplegic homolog 2,^[14] and
• Thyroid hormone receptor alpha^[8] and