MEF2C: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Myocyte-specific enhancer factor 2C''' also known as '''MADS box transcription enhancer factor 2, polypeptide C''' is a [[protein]] that in humans is encoded by the ''MEF2C'' [[gene]].<ref name="pmid7679508">{{cite journal | vauthors = Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA | title = MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 4 | pages = 1546–50 | date = Feb 1993 | pmid = 7679508 | pmc = 45911 | doi = 10.1073/pnas.90.4.1546 }}</ref><ref name="pmid8455629">{{cite journal | vauthors = McDermott JC, Cardoso MC, Yu YT, Andres V, Leifer D, Krainc D, Lipton SA, Nadal-Ginard B | title = hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors | journal = Molecular and Cellular Biology | volume = 13 | issue = 4 | pages = 2564–77 | date = Apr 1993 | pmid = 8455629 | pmc = 359588 | doi =  10.1128/mcb.13.4.2564}}</ref> MEF2C is a [[transcription factor]] in the [[Mef2]] family.<ref>{{cite journal | vauthors = Molkentin JD, Black BL, Martin JF, Olson EN | title = Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C | journal = Molecular and Cellular Biology | volume = 16 | issue = 6 | pages = 2627–36 | date = Jun 1996 | pmid = 8649370 | pmc = 231253 | doi=10.1128/mcb.16.6.2627}}</ref><ref>{{cite web | title = Entrez Gene: MEF2C myocyte enhancer factor 2C| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4208| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Genomics ==
{{GNF_Protein_box
| image = PBB_Protein_MEF2C_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1c7u.
| PDB = {{PDB2|1c7u}}, {{PDB2|1egw}}
| Name = MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)
| HGNCid = 6996
| Symbol = MEF2C
| AltSymbols =;
| OMIM = 600662
| ECnumber = 
| Homologene = 31087
| MGIid = 99458
| GeneAtlas_image1 = PBB_GE_MEF2C_209199_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MEF2C_207968_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_MEF2C_209200_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4208
    | Hs_Ensembl = ENSG00000081189
    | Hs_RefseqProtein = NP_002388
    | Hs_RefseqmRNA = NM_002397
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 88051922
    | Hs_GenLoc_end = 88214818
    | Hs_Uniprot = Q06413
    | Mm_EntrezGene = 17260
    | Mm_Ensembl = ENSMUSG00000005583
    | Mm_RefseqmRNA = NM_025282
    | Mm_RefseqProtein = NP_079558
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 83981532
    | Mm_GenLoc_end = 84141286
    | Mm_Uniprot = 
  }}
}}
'''MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)''', also known as '''MEF2C''', is a [[transcription factor]] in the [[Mef2]] family.<ref>{{cite journal |author=Molkentin JD, Black BL, Martin JF, Olson EN |title=Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C. |journal=Mol Cell Biol. |volume=16 |issue=6 |pages=2627-36 |year=1996 |pmid=8649370}}</ref><ref>{{cite web | title = Entrez Gene: MEF2C myocyte enhancer factor 2C| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4208| accessdate = }}</ref>  The Mef2c [[gene]] is necessary for proper [[embryo]]nic development: mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the [[heart]] and [[blood vessel|vascular system]].<ref>{{cite journal |author=Bi W, Drake CJ, Schwarz JJ |title=The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF |journal=Developmental Biology |volume=211 |issue=2 |pages=255-67 |year=1999 |pmid=10395786}}</ref>


The gene is located at 5q14.3 on the [[Sense (molecular biology)|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 kilo[[Dalton (unit)|Dalton]]s. 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.


== Interactions ==


==See also==
MEF2C has been shown to [[Protein-protein interaction|interact]] with:
{{div col|colwidth=20em}}
* [[EP300]],<ref name = pmid9001254>{{cite journal | vauthors = Sartorelli V, Huang J, Hamamori Y, Kedes L | title = Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C | journal = Molecular and Cellular Biology | volume = 17 | issue = 2 | pages = 1010–26 | date = Feb 1997 | pmid = 9001254 | pmc = 231826 | doi =  10.1128/mcb.17.2.1010}}</ref>
* [[HDAC4]], [[HDAC7]], [[HDAC9]],<ref name = pmid10523670>{{cite journal | vauthors = Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ | title = HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor | journal = Molecular and Cellular Biology | volume = 19 | issue = 11 | pages = 7816–27 | date = Nov 1999 | pmid = 10523670 | pmc = 84849 | doi =  10.1128/mcb.19.11.7816}}</ref><ref name = pmid11486037>{{cite journal | vauthors = Wang AH, Yang XJ | title = Histone deacetylase 4 possesses intrinsic nuclear import and export signals | journal = Molecular and Cellular Biology | volume = 21 | issue = 17 | pages = 5992–6005 | date = Sep 2001 | pmid = 11486037 | pmc = 87317 | doi = 10.1128/MCB.21.17.5992-6005.2001 }}</ref>
* [[MAPK7]],<ref name = pmid9753748>{{cite journal | vauthors = Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA | title = Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1 | journal = Nucleic Acids Research | volume = 26 | issue = 20 | pages = 4771–7 | date = Oct 1998 | pmid = 9753748 | pmc = 147902 | doi = 10.1093/nar/26.20.4771 }}</ref>
* [[SOX18]]<ref name = pmid11554755>{{cite journal | vauthors = Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE | title = SOX18 directly interacts with MEF2C in endothelial cells | journal = Biochemical and Biophysical Research Communications | volume = 287 | issue = 2 | pages = 493–500 | date = Sep 2001 | pmid = 11554755 | doi = 10.1006/bbrc.2001.5589 }}</ref>
* [[Sp1 transcription factor|SP1]],<ref name = pmid9748305>{{cite journal | vauthors = Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA | title = Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1 | journal = The Journal of Biological Chemistry | volume = 273 | issue = 40 | pages = 26218–24 | date = Oct 1998 | pmid = 9748305 | doi = 10.1074/jbc.273.40.26218 }}</ref>  and
* [[TEAD1]].<ref name = pmid12061776>{{cite journal | vauthors = Maeda T, Gupta MP, Stewart AF | title = TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters | journal = Biochemical and Biophysical Research Communications | volume = 294 | issue = 4 | pages = 791–7 | date = Jun 2002 | pmid = 12061776 | doi = 10.1016/S0006-291X(02)00556-9 }}</ref>
{{Div col end}}
 
==Biological significance==
 
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 [[blood vessel|vascular system]].<ref>{{cite journal | vauthors = Bi W, Drake CJ, Schwarz JJ | title = The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF | journal = Developmental Biology | volume = 211 | issue = 2 | pages = 255–67 | date = Jul 1999 | pmid = 10395786 | doi = 10.1006/dbio.1999.9307 }}</ref> It is one of the targets of an oncomiR, [[MIRN21]].
 
In humans mutations of this gene result in [[autosomal dominant mental retardation|autosomal dominant mental retardation 20]] (MRD20),<ref>{{OMIM|613443}}</ref> characterised by severe psychomotor impairment, periodic [[tremor]] and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, [[hypotonia]], abnormal [[EEG]], [[epilepsy]], absence of speech, [[autism|autistic behavior]], [[bruxism]], and mild [[dysmorphy|dysmorphic features]], mild thinning of the [[corpus callosum]] and delay of [[white matter]] [[myelination]] in the [[occipital lobes]]<ref name="pmid20333642">{{cite journal | vauthors = 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 | title = Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C | journal = American Journal of Medical Genetics Part B | volume = 153B | issue = 5 | pages = 1042–51 | date = Jul 2010 | pmid = 20333642 | doi = 10.1002/ajmg.b.31071 }}</ref>
 
MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced [[CXCR5]] gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response <ref name="pmid27909439">{{cite journal | vauthors = Mitkin NA, Muratova AM, Schwartz AM, Kuprash DV | title = The A Allele of the Single-Nucleotide Polymorphism rs630923 Creates a Binding Site for MEF2C Resulting in Reduced CXCR5 Promoter Activity in B-Cell Lymphoblastic Cell Lines | journal = Front. Immunol. | volume = 7 | issue = 515 | date = Nov 2016 | pmid = 27909439  | doi = 10.3389/fimmu.2016.00515 }}</ref>
 
== See also ==
* [[Mef2]]
* [[Mef2]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA | title = MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 4 | pages = 1546–50 | date = Feb 1993 | pmid = 7679508 | pmc = 45911 | doi = 10.1073/pnas.90.4.1546 }}
| citations =
* {{cite journal | vauthors = Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL | title = 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 | journal = Genomics | volume = 29 | issue = 3 | pages = 704–11 | date = Oct 1995 | pmid = 8575763 | doi = 10.1006/geno.1995.9007 }}
*{{cite journal | author=Leifer D, Krainc D, Yu YT, ''et al.'' |title=MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 4 |pages= 1546-50 |year= 1993 |pmid= 7679508 |doi= }}
* {{cite journal | vauthors = Krainc D, Haas M, Ward DC, Lipton SA, Bruns G, Leifer D | title = Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved | journal = Genomics | volume = 29 | issue = 3 | pages = 809–11 | date = Oct 1995 | pmid = 8575784 | doi = 10.1006/geno.1995.9927 }}
*{{cite journal | author=McDermott JC, Cardoso MC, Yu YT, ''et al.'' |title=hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors. |journal=Mol. Cell. Biol. |volume=13 |issue= 4 |pages= 2564-77 |year= 1993 |pmid= 8455629 |doi= }}
* {{cite journal | vauthors = Molkentin JD, Li L, Olson EN | title = Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity | journal = The Journal of Biological Chemistry | volume = 271 | issue = 29 | pages = 17199–204 | date = Jul 1996 | pmid = 8663403 | doi = 10.1074/jbc.271.29.17199 }}
*{{cite journal | author=Hobson GM, Krahe R, Garcia E, ''et al.'' |title=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. |journal=Genomics |volume=29 |issue= 3 |pages= 704-11 |year= 1996 |pmid= 8575763 |doi= 10.1006/geno.1995.9007 }}
* {{cite journal | vauthors = Black BL, Ligon KL, Zhang Y, Olson EN | title = Cooperative transcriptional activation by the neurogenic basic helix-loop-helix protein MASH1 and members of the myocyte enhancer factor-2 (MEF2) family | journal = The Journal of Biological Chemistry | volume = 271 | issue = 43 | pages = 26659–63 | date = Oct 1996 | pmid = 8900141 | doi = 10.1074/jbc.271.43.26659 }}
*{{cite journal | author=Krainc D, Haas M, Ward DC, ''et al.'' |title=Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved. |journal=Genomics |volume=29 |issue= 3 |pages= 809-11 |year= 1996 |pmid= 8575784 |doi= 10.1006/geno.1995.9927 }}
* {{cite journal | vauthors = Gradwohl G, Fode C, Guillemot F | title = Restricted expression of a novel murine atonal-related bHLH protein in undifferentiated neural precursors | journal = Developmental Biology | volume = 180 | issue = 1 | pages = 227–41 | date = Nov 1996 | pmid = 8948587 | doi = 10.1006/dbio.1996.0297 }}
*{{cite journal | author=Molkentin JD, Li L, Olson EN |title=Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity. |journal=J. Biol. Chem. |volume=271 |issue= 29 |pages= 17199-204 |year= 1996 |pmid= 8663403 |doi= }}
* {{cite journal | vauthors = Sartorelli V, Huang J, Hamamori Y, Kedes L | title = Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C | journal = Molecular and Cellular Biology | volume = 17 | issue = 2 | pages = 1010–26 | date = Feb 1997 | pmid = 9001254 | pmc = 231826 | doi = 10.1128/mcb.17.2.1010}}
*{{cite journal | author=Black BL, Ligon KL, Zhang Y, Olson EN |title=Cooperative transcriptional activation by the neurogenic basic helix-loop-helix protein MASH1 and members of the myocyte enhancer factor-2 (MEF2) family. |journal=J. Biol. Chem. |volume=271 |issue= 43 |pages= 26659-63 |year= 1996 |pmid= 8900141 |doi= }}
* {{cite journal | vauthors = Han J, Jiang Y, Li Z, Kravchenko VV, Ulevitch RJ | title = Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation | journal = Nature | volume = 386 | issue = 6622 | pages = 296–9 | date = Mar 1997 | pmid = 9069290 | doi = 10.1038/386296a0 }}
*{{cite journal | author=Gradwohl G, Fode C, Guillemot F |title=Restricted expression of a novel murine atonal-related bHLH protein in undifferentiated neural precursors. |journal=Dev. Biol. |volume=180 |issue= 1 |pages= 227-41 |year= 1997 |pmid= 8948587 |doi= 10.1006/dbio.1996.0297 }}
* {{cite journal | vauthors = Kato Y, Kravchenko VV, Tapping RI, Han J, Ulevitch RJ, Lee JD | title = BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C | journal = The EMBO Journal | volume = 16 | issue = 23 | pages = 7054–66 | date = Dec 1997 | pmid = 9384584 | pmc = 1170308 | doi = 10.1093/emboj/16.23.7054 }}
*{{cite journal | author=Sartorelli V, Huang J, Hamamori Y, Kedes L |title=Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C. |journal=Mol. Cell. Biol. |volume=17 |issue= 2 |pages= 1010-26 |year= 1997 |pmid= 9001254 |doi= }}
* {{cite journal | vauthors = Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA | title = Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1 | journal = The Journal of Biological Chemistry | volume = 273 | issue = 40 | pages = 26218–24 | date = Oct 1998 | pmid = 9748305 | doi = 10.1074/jbc.273.40.26218 }}
*{{cite journal | author=Han J, Jiang Y, Li Z, ''et al.'' |title=Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation. |journal=Nature |volume=386 |issue= 6622 |pages= 296-9 |year= 1997 |pmid= 9069290 |doi= 10.1038/386296a0 }}
* {{cite journal | vauthors = Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA | title = Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1 | journal = Nucleic Acids Research | volume = 26 | issue = 20 | pages = 4771–7 | date = Oct 1998 | pmid = 9753748 | pmc = 147902 | doi = 10.1093/nar/26.20.4771 }}
*{{cite journal | author=Kato Y, Kravchenko VV, Tapping RI, ''et al.'' |title=BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C. |journal=EMBO J. |volume=16 |issue= 23 |pages= 7054-66 |year= 1998 |pmid= 9384584 |doi= 10.1093/emboj/16.23.7054 }}
* {{cite journal | vauthors = Swanson BJ, Jäck HM, Lyons GE | title = Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes | journal = Molecular Immunology | volume = 35 | issue = 8 | pages = 445–58 | date = Jun 1998 | pmid = 9798649 | doi = 10.1016/S0161-5890(98)00058-3 }}
*{{cite journal | author=Krainc D, Bai G, Okamoto S, ''et al.'' |title=Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1. |journal=J. Biol. Chem. |volume=273 |issue= 40 |pages= 26218-24 |year= 1998 |pmid= 9748305 |doi= }}
* {{cite journal | vauthors = Zhao M, New L, Kravchenko VV, Kato Y, Gram H, di Padova F, Olson EN, Ulevitch RJ, Han J | title = Regulation of the MEF2 family of transcription factors by p38 | journal = Molecular and Cellular Biology | volume = 19 | issue = 1 | pages = 21–30 | date = Jan 1999 | pmid = 9858528 | pmc = 83862 | doi =  10.1128/mcb.19.1.21}}
*{{cite journal | author=Yang CC, Ornatsky OI, McDermott JC, ''et al.'' |title=Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1. |journal=Nucleic Acids Res. |volume=26 |issue= 20 |pages= 4771-7 |year= 1998 |pmid= 9753748 |doi= }}
* {{cite journal | vauthors = Wilson-Rawls J, Molkentin JD, Black BL, Olson EN | title = Activated notch inhibits myogenic activity of the MADS-Box transcription factor myocyte enhancer factor 2C | journal = Molecular and Cellular Biology | volume = 19 | issue = 4 | pages = 2853–62 | date = Apr 1999 | pmid = 10082551 | pmc = 84078 | doi =  10.1128/mcb.19.4.2853}}
*{{cite journal | author=Swanson BJ, Jäck HM, Lyons GE |title=Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes. |journal=Mol. Immunol. |volume=35 |issue= 8 |pages= 445-58 |year= 1998 |pmid= 9798649 |doi=  }}
* {{cite journal | vauthors = Yang SH, Galanis A, Sharrocks AD | title = Targeting of p38 mitogen-activated protein kinases to MEF2 transcription factors | journal = Molecular and Cellular Biology | volume = 19 | issue = 6 | pages = 4028–38 | date = Jun 1999 | pmid = 10330143 | pmc = 104362 | doi =  10.1128/mcb.19.6.4028}}
*{{cite journal | author=Zhao M, New L, Kravchenko VV, ''et al.'' |title=Regulation of the MEF2 family of transcription factors by p38. |journal=Mol. Cell. Biol. |volume=19 |issue= 1 |pages= 21-30 |year= 1999 |pmid= 9858528 |doi=  }}
* {{cite journal | vauthors = Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ | title = HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor | journal = Molecular and Cellular Biology | volume = 19 | issue = 11 | pages = 7816–27 | date = Nov 1999 | pmid = 10523670 | pmc = 84849 | doi =  10.1128/mcb.19.11.7816}}
*{{cite journal | author=Wilson-Rawls J, Molkentin JD, Black BL, Olson EN |title=Activated notch inhibits myogenic activity of the MADS-Box transcription factor myocyte enhancer factor 2C. |journal=Mol. Cell. Biol. |volume=19 |issue= 4 |pages= 2853-62 |year= 1999 |pmid= 10082551 |doi=  }}
* {{cite journal | vauthors = Lu J, McKinsey TA, Nicol RL, Olson EN | title = Signal-dependent activation of the MEF2 transcription factor by dissociation from histone deacetylases | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 8 | pages = 4070–5 | date = Apr 2000 | pmid = 10737771 | pmc = 18151 | doi = 10.1073/pnas.080064097 }}
*{{cite journal | author=Yang SH, Galanis A, Sharrocks AD |title=Targeting of p38 mitogen-activated protein kinases to MEF2 transcription factors. |journal=Mol. Cell. Biol. |volume=19 |issue= 6 |pages= 4028-38 |year= 1999 |pmid= 10330143 |doi=  }}
* {{cite journal | vauthors = Morin S, Charron F, Robitaille L, Nemer M | title = GATA-dependent recruitment of MEF2 proteins to target promoters | journal = The EMBO Journal | volume = 19 | issue = 9 | pages = 2046–55 | date = May 2000 | pmid = 10790371 | pmc = 305697 | doi = 10.1093/emboj/19.9.2046 }}
*{{cite journal | author=Wang AH, Bertos NR, Vezmar M, ''et al.'' |title=HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor. |journal=Mol. Cell. Biol. |volume=19 |issue= 11 |pages= 7816-27 |year= 1999 |pmid= 10523670 |doi= }}
* {{cite journal | vauthors = Wu Z, Woodring PJ, Bhakta KS, Tamura K, Wen F, Feramisco JR, Karin M, Wang JY, Puri PL | title = p38 and extracellular signal-regulated kinases regulate the myogenic program at multiple steps | journal = Molecular and Cellular Biology | volume = 20 | issue = 11 | pages = 3951–64 | date = Jun 2000 | pmid = 10805738 | pmc = 85749 | doi = 10.1128/MCB.20.11.3951-3964.2000 }}
*{{cite journal | author=Lu J, McKinsey TA, Nicol RL, Olson EN |title=Signal-dependent activation of the MEF2 transcription factor by dissociation from histone deacetylases. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 8 |pages= 4070-5 |year= 2000 |pmid= 10737771 |doi= 10.1073/pnas.080064097 }}
*{{cite journal | author=Morin S, Charron F, Robitaille L, Nemer M |title=GATA-dependent recruitment of MEF2 proteins to target promoters. |journal=EMBO J. |volume=19 |issue= 9 |pages= 2046-55 |year= 2000 |pmid= 10790371 |doi= 10.1093/emboj/19.9.2046 }}
*{{cite journal  | author=Wu Z, Woodring PJ, Bhakta KS, ''et al.'' |title=p38 and extracellular signal-regulated kinases regulate the myogenic program at multiple steps. |journal=Mol. Cell. Biol. |volume=20 |issue= 11 |pages= 3951-64 |year= 2000 |pmid= 10805738 |doi=  }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* {{MeshName|MEF2C+protein,+human}}
* {{MeshName|MEF2C+protein,+human}}
* {{FactorBook|MEF2C}}


{{PDB Gallery|geneid=4208}}
{{Transcription factors}}


{{gene-5-stub}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}

Revision as of 15:05, 26 November 2017

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Myocyte-specific enhancer factor 2C also known as MADS box transcription enhancer factor 2, polypeptide C is a protein that in humans is encoded by the MEF2C gene.[1][2] MEF2C is a transcription factor in the Mef2 family.[3][4]

Genomics

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.

Interactions

MEF2C has been shown to interact with:

Biological significance

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.[12] It is one of the targets of an oncomiR, MIRN21.

In humans mutations of this gene result in autosomal dominant mental retardation 20 (MRD20),[13] characterised by severe psychomotor impairment, 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[14]

MEF2C-binding site is associated with minor allele of SNP rs630923, associated with the risk of multiple sclerosis, and responsible for reduced CXCR5 gene promoter activity in B-cells during activation, that could lead to decreased autoimmune response [15]

See also

References

  1. ↑ Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA (Feb 1993). "MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex". Proceedings of the National Academy of Sciences of the United States of America. 90 (4): 1546–50. doi:10.1073/pnas.90.4.1546. PMC 45911. PMID 7679508.
  2. ↑ McDermott JC, Cardoso MC, Yu YT, Andres V, Leifer D, Krainc D, Lipton SA, Nadal-Ginard B (Apr 1993). "hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors". Molecular and Cellular Biology. 13 (4): 2564–77. doi:10.1128/mcb.13.4.2564. PMC 359588. PMID 8455629.
  3. ↑ Molkentin JD, Black BL, Martin JF, Olson EN (Jun 1996). "Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C". Molecular and Cellular Biology. 16 (6): 2627–36. doi:10.1128/mcb.16.6.2627. PMC 231253. PMID 8649370.
  4. ↑ "Entrez Gene: MEF2C myocyte enhancer factor 2C".
  5. ↑ Sartorelli V, Huang J, Hamamori Y, Kedes L (Feb 1997). "Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C". Molecular and Cellular Biology. 17 (2): 1010–26. doi:10.1128/mcb.17.2.1010. PMC 231826. PMID 9001254.
  6. ↑ Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ (Nov 1999). "HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor". Molecular and Cellular Biology. 19 (11): 7816–27. doi:10.1128/mcb.19.11.7816. PMC 84849. PMID 10523670.
  7. ↑ Wang AH, Yang XJ (Sep 2001). "Histone deacetylase 4 possesses intrinsic nuclear import and export signals". Molecular and Cellular Biology. 21 (17): 5992–6005. doi:10.1128/MCB.21.17.5992-6005.2001. PMC 87317. PMID 11486037.
  8. ↑ Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA (Oct 1998). "Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1". Nucleic Acids Research. 26 (20): 4771–7. doi:10.1093/nar/26.20.4771. PMC 147902. PMID 9753748.
  9. ↑ Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (Sep 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
  10. ↑ Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA (Oct 1998). "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1". The Journal of Biological Chemistry. 273 (40): 26218–24. doi:10.1074/jbc.273.40.26218. PMID 9748305.
  11. ↑ Maeda T, Gupta MP, Stewart AF (Jun 2002). "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochemical and Biophysical Research Communications. 294 (4): 791–7. doi:10.1016/S0006-291X(02)00556-9. PMID 12061776.
  12. ↑ Bi W, Drake CJ, Schwarz JJ (Jul 1999). "The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF". Developmental Biology. 211 (2): 255–67. doi:10.1006/dbio.1999.9307. PMID 10395786.
  13. ↑ Online Mendelian Inheritance in Man (OMIM) 613443
  14. ↑ 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 (Jul 2010). "Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C". American Journal of Medical Genetics Part B. 153B (5): 1042–51. doi:10.1002/ajmg.b.31071. PMID 20333642.
  15. ↑ Mitkin NA, Muratova AM, Schwartz AM, Kuprash DV (Nov 2016). "The A Allele of the Single-Nucleotide Polymorphism rs630923 Creates a Binding Site for MEF2C Resulting in Reduced CXCR5 Promoter Activity in B-Cell Lymphoblastic Cell Lines". Front. Immunol. 7 (515). doi:10.3389/fimmu.2016.00515. PMID 27909439.

Further reading

External links

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