Protein-coding gene in the species Homo sapiens
Myocyte-specific enhancer factor 2A is aprotein that in humans is encoded by theMEF2A gene .[ 5] [ 6] transcription factor in theMef2 family. In humans it is located onchromosome 15q26 . Certainmutations in MEF2A cause anautosomal dominant form ofcoronary artery disease andmyocardial infarction .
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]
Myocyte-specific enhancer factor 2A has been shown tointeract with:
^a b c GRCh38: Ensembl release 89: ENSG00000068305 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000030557 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V, Nadal-Ginard B (October 1992)."Human myocyte-specific enhancer factor 2 comprises a group of tissue-restricted MADS box transcription factors" .Genes Dev .6 (9):1783– 98.doi :10.1101/gad.6.9.1783 PMID 1516833 . ^a b "Entrez Gene: MEF2A MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)" .^ Mao Z, Nadal-Ginard B (June 1996)."Functional and physical interactions between mammalian achaete-scute homolog 1 and myocyte enhancer factor 2A" .J. Biol. Chem .271 (24):14371– 5.doi :10.1074/jbc.271.24.14371 PMID 8662987 . ^a b De Luca A, Severino A, De Paolis P, Cottone G, De Luca L, De Falco M, Porcellini A, Volpe M, Condorelli G (February 2003)."p300/cAMP-response-element-binding-protein ('CREB')-binding protein (CBP) modulates co-operation between myocyte enhancer factor 2A (MEF2A) and thyroid hormone receptor-retinoid X receptor" .Biochem. J .369 (Pt 3):477– 84.doi :10.1042/BJ20020057 .PMC 1223100 PMID 12371907 . ^a b Miska EA, Karlsson C, Langley E, Nielsen SJ, Pines J, Kouzarides T (September 1999)."HDAC4 deacetylase associates with and represses the MEF2 transcription factor" .EMBO J .18 (18):5099– 107.doi :10.1093/emboj/18.18.5099 .PMC 1171580 PMID 10487761 . ^a b c Lemercier C, Verdel A, Galloo B, Curtet S, Brocard MP, Khochbin S (May 2000)."mHDA1/HDAC5 histone deacetylase interacts with and represses MEF2A transcriptional activity" .J. Biol. Chem .275 (20):15594– 9.doi :10.1074/jbc.M908437199 PMID 10748098 . ^ Zhao M, New L, Kravchenko VV, Kato Y, Gram H, di Padova F, Olson EN, Ulevitch RJ, Han J (January 1999)."Regulation of the MEF2 family of transcription factors by p38" .Mol. Cell. Biol .19 (1):21– 30.doi :10.1128/mcb.19.1.21 .PMC 83862 PMID 9858528 . ^ Yang SH, Galanis A, Sharrocks AD (June 1999)."Targeting of p38 mitogen-activated protein kinases to MEF2 transcription factors" .Mol. Cell. Biol .19 (6):4028– 38.doi :10.1128/mcb.19.6.4028 .PMC 104362 PMID 10330143 . ^ Ornatsky OI, McDermott JC (October 1996)."MEF2 protein expression, DNA binding specificity and complex composition, and transcriptional activity in muscle and non-muscle cells" .J. Biol. Chem .271 (40):24927– 33.doi :10.1074/jbc.271.40.24927 PMID 8798771 . ^ Quinn ZA, Yang CC, Wrana JL, McDermott JC (February 2001)."Smad proteins function as co-modulators for MEF2 transcriptional regulatory proteins" .Nucleic Acids Res .29 (3):732– 42.doi :10.1093/nar/29.3.732 .PMC 30396 PMID 11160896 .
Wang Q (2005)."Advances in the Genetic Basis of Coronary Artery Disease" .Current Atherosclerosis Reports .7 (3):235– 41.doi :10.1007/s11883-005-0012-6 .PMC 1783687 PMID 15811259 . Wang Q (2005)."Molecular genetics of coronary artery disease" .Curr. Opin. Cardiol .20 (3):182– 8.doi :10.1097/01.hco.0000160373.77190.f1 .PMC 1579824 PMID 15861005 . Funk WD, Wright WE (1992)."Cyclic amplification and selection of targets for multicomponent complexes: myogenin interacts with factors recognizing binding sites for basic helix-loop-helix, nuclear factor 1, myocyte-specific enhancer-binding factor 2, and COMP1 factor" .Proc. Natl. Acad. Sci. U.S.A .89 (20):9484– 8.Bibcode :1992PNAS...89.9484F .doi :10.1073/pnas.89.20.9484 PMC 50156 PMID 1329097 . Pollock R, Treisman R (1992)."Human SRF-related proteins: DNA-binding properties and potential regulatory targets" .Genes Dev .5 (12A):2327– 41.doi :10.1101/gad.5.12a.2327 PMID 1748287 . Molkentin JD, Black BL, Martin JF, Olson EN (1996)."Cooperative activation of muscle gene expression by MEF2 and myogenic bHLH proteins" .Cell .83 (7):1125– 36.doi :10.1016/0092-8674(95)90139-6 PMID 8548800 . Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (1996). "Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23".Genomics .29 (3):704– 11.doi :10.1006/geno.1995.9007 .PMID 8575763 . Mao Z, Nadal-Ginard B (1996)."Functional and physical interactions between mammalian achaete-scute homolog 1 and myocyte enhancer factor 2A" .J. Biol. Chem .271 (24):14371– 5.doi :10.1074/jbc.271.24.14371 PMID 8662987 . Suzuki E, Lowry J, Sonoda G, Testa JR, Walsh K (1996). "Structures and chromosome locations of the human MEF2A gene and a pseudogene MEF2AP".Cytogenet. Cell Genet .73 (3):244– 9.doi :10.1159/000134348 .PMID 8697817 . Ornatsky OI, McDermott JC (1996)."MEF2 protein expression, DNA binding specificity and complex composition, and transcriptional activity in muscle and non-muscle cells" .J. Biol. Chem .271 (40):24927– 33.doi :10.1074/jbc.271.40.24927 PMID 8798771 . Black BL, Molkentin JD, Olson EN (1998)."Multiple Roles for the MyoD Basic Region in Transmission of Transcriptional Activation Signals and Interaction with MEF2" .Mol. Cell. Biol .18 (1):69– 77.doi :10.1128/mcb.18.1.69 .PMC 121453 PMID 9418854 . Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA (1998)."Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1" .Nucleic Acids Res .26 (20):4771– 7.doi :10.1093/nar/26.20.4771 .PMC 147902 PMID 9753748 . Zhao M, New L, Kravchenko VV, Kato Y, Gram H, di Padova F, Olson EN, Ulevitch RJ, Han J (1999)."Regulation of the MEF2 Family of Transcription Factors by p38" .Mol. Cell. Biol .19 (1):21– 30.doi :10.1128/mcb.19.1.21 .PMC 83862 PMID 9858528 . Yang SH, Galanis A, Sharrocks AD (1999)."Targeting of p38 Mitogen-Activated Protein Kinases to MEF2 Transcription Factors" .Mol. Cell. Biol .19 (6):4028– 38.doi :10.1128/mcb.19.6.4028 .PMC 104362 PMID 10330143 . Iida K, Hidaka K, Takeuchi M, Nakayama M, Yutani C, Mukai T, Morisaki T (1999)."Expression of MEF2 genes during human cardiac development" .Tohoku J. Exp. Med .187 (1):15– 23.doi :10.1620/tjem.187.15 PMID 10458488 . Miska EA, Karlsson C, Langley E, Nielsen SJ, Pines J, Kouzarides T (1999)."HDAC4 deacetylase associates with and represses the MEF2 transcription factor" .EMBO J .18 (18):5099– 107.doi :10.1093/emboj/18.18.5099 .PMC 1171580 PMID 10487761 . Mao Z, Bonni A, Xia F, Nadal-Vicens M, Greenberg ME (1999). "Neuronal activity-dependent cell survival mediated by transcription factor MEF2".Science .286 (5440):785– 90.doi :10.1126/science.286.5440.785 .PMID 10531066 . Lu J, McKinsey TA, Nicol RL, Olson EN (2000)."Signal-dependent activation of the MEF2 transcription factor by dissociation from histone deacetylases" .Proc. Natl. Acad. Sci. U.S.A .97 (8):4070– 5.Bibcode :2000PNAS...97.4070L .doi :10.1073/pnas.080064097 PMC 18151 PMID 10737771 . Lemercier C, Verdel A, Galloo B, Curtet S, Brocard MP, Khochbin S (2000)."mHDA1/HDAC5 histone deacetylase interacts with and represses MEF2A transcriptional activity" (PDF) .J. Biol. Chem .275 (20):15594– 9.doi :10.1074/jbc.M908437199 PMID 10748098 .S2CID 39220205 . Youn HD, Grozinger CM, Liu JO (2000)."Calcium regulates transcriptional repression of myocyte enhancer factor 2 by histone deacetylase 4" .J. Biol. Chem .275 (29):22563– 7.doi :10.1074/jbc.C000304200 PMID 10825153 .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4)β-Scaffold factors with minor groove contacts
(0) Other transcription factors
