The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kiloDaltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on serine-59 and serine-396, sumoylation on lysine-391, acetylation on lysine-4 and proteolytic cleavage.
This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the heart and vascular system. It is one of the targets of an oncomiR, MIRN21.
In humans mutations of this gene have resulted in severe psychomotor retardation, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes
^Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun.287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID11554755.
^Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA (1998). "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1". J. Biol. Chem.273 (40): 26218–24. doi:10.1074/jbc.273.40.26218. PMID9748305.
^Bi W, Drake CJ, Schwarz JJ (1999). "The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF". Developmental Biology211 (2): 255–67. doi:10.1006/dbio.1999.9307. PMID10395786.
^Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P (March 2010). "Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C". American Journal of Medical Genetics153B (5): 1042–51. doi:10.1002/ajmg.b.31071. PMID20333642.
Hobson GM, Krahe R, Garcia E et al. (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". Genomics29 (3): 704–11. doi:10.1006/geno.1995.9007. PMID8575763.
Krainc D, Haas M, Ward DC et al. (1996). "Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved". Genomics29 (3): 809–11. doi:10.1006/geno.1995.9927. PMID8575784.
Molkentin JD, Li L, Olson EN (1996). "Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity". J. Biol. Chem.271 (29): 17199–204. doi:10.1074/jbc.271.29.17199. PMID8663403.
Black BL, Ligon KL, Zhang Y, Olson EN (1996). "Cooperative transcriptional activation by the neurogenic basic helix-loop-helix protein MASH1 and members of the myocyte enhancer factor-2 (MEF2) family". J. Biol. Chem.271 (43): 26659–63. doi:10.1074/jbc.271.43.26659. PMID8900141.
Gradwohl G, Fode C, Guillemot F (1997). "Restricted expression of a novel murine atonal-related bHLH protein in undifferentiated neural precursors". Dev. Biol.180 (1): 227–41. doi:10.1006/dbio.1996.0297. PMID8948587.
Krainc D, Bai G, Okamoto S et al. (1998). "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1". J. Biol. Chem.273 (40): 26218–24. doi:10.1074/jbc.273.40.26218. PMID9748305.
Swanson BJ, Jäck HM, Lyons GE (1998). "Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes". Mol. Immunol.35 (8): 445–58. doi:10.1016/S0161-5890(98)00058-3. PMID9798649.