MEF2C

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Myocyte enhancer factor 2C
Protein MEF2C PDB 1c7u.png
PDB rendering based on 1c7u.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MEF2C ; C5DELq14.3; DEL5q14.3
External IDs OMIM600662 MGI99458 HomoloGene31087 GeneCards: MEF2C Gene
RNA expression pattern
PBB GE MEF2C 209199 s at tn.png
PBB GE MEF2C 207968 s at tn.png
PBB GE MEF2C 209200 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4208 17260
Ensembl ENSG00000081189 ENSMUSG00000005583
UniProt Q06413 Q8CFN5
RefSeq (mRNA) NM_001131005 NM_001170537
RefSeq (protein) NP_001124477 NP_001164008
Location (UCSC) Chr 5:
88.01 – 88.2 Mb
Chr 13:
83.5 – 83.67 Mb
PubMed search [1] [2]

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[edit]

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[edit]

MEF2C has been shown to interact with:

Biological significance[edit]

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 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[13]

See also[edit]

References[edit]

  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". Proc. Natl. Acad. Sci. U.S.A. 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 (April 1993). "hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors". Mol. Cell. Biol. 13 (4): 2564–77. PMC 359588. PMID 8455629. 
  3. ^ Molkentin JD, Black BL, Martin JF, Olson EN (1996). "Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C". Mol Cell Biol. 16 (6): 2627–36. PMC 231253. PMID 8649370. 
  4. ^ "Entrez Gene: MEF2C myocyte enhancer factor 2C". 
  5. ^ Sartorelli V, Huang J, Hamamori Y, Kedes L (1997). "Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C". Mol. Cell. Biol. 17 (2): 1010–26. PMC 231826. PMID 9001254. 
  6. ^ Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ (1999). "HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor". Mol. Cell. Biol. 19 (11): 7816–27. PMC 84849. PMID 10523670. 
  7. ^ Wang AH, Yang XJ (2001). "Histone deacetylase 4 possesses intrinsic nuclear import and export signals". Mol. Cell. Biol. 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 (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. 
  9. ^ 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. PMID 11554755. 
  10. ^ 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. PMID 9748305. 
  11. ^ Maeda T, Gupta MP, Stewart AF (2002). "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochem. Biophys. Res. Commun. 294 (4): 791–7. doi:10.1016/S0006-291X(02)00556-9. PMID 12061776. 
  12. ^ 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 Biology 211 (2): 255–67. doi:10.1006/dbio.1999.9307. PMID 10395786. 
  13. ^ 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 Genetics 153B (5): 1042–51. doi:10.1002/ajmg.b.31071. PMID 20333642. 

Further reading[edit]

External links[edit]