Biology:MEF2C

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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:

  • SETD1A

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. ↑ "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. Feb 1993. doi:10.1073/pnas.90.4.1546. PMID 7679508. Bibcode: 1993PNAS...90.1546L. 
  2. ↑ "hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors". Molecular and Cellular Biology 13 (4): 2564–77. Apr 1993. doi:10.1128/mcb.13.4.2564. PMID 8455629. 
  3. ↑ "Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C". Molecular and Cellular Biology 16 (6): 2627–36. Jun 1996. doi:10.1128/mcb.16.6.2627. PMID 8649370. 
  4. ↑ "Entrez Gene: MEF2C myocyte enhancer factor 2C". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4208. 
  5. ↑ "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. Feb 1997. doi:10.1128/mcb.17.2.1010. PMID 9001254. 
  6. ↑ "HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor". Molecular and Cellular Biology 19 (11): 7816–27. Nov 1999. doi:10.1128/mcb.19.11.7816. PMID 10523670. 
  7. ↑ "Histone deacetylase 4 possesses intrinsic nuclear import and export signals". Molecular and Cellular Biology 21 (17): 5992–6005. Sep 2001. doi:10.1128/MCB.21.17.5992-6005.2001. PMID 11486037. 
  8. ↑ "Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1". Nucleic Acids Research 26 (20): 4771–7. Oct 1998. doi:10.1093/nar/26.20.4771. PMID 9753748. 
  9. ↑ "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications 287 (2): 493–500. Sep 2001. doi:10.1006/bbrc.2001.5589. PMID 11554755. 
  10. ↑ "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. Oct 1998. doi:10.1074/jbc.273.40.26218. PMID 9748305. 
  11. ↑ "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochemical and Biophysical Research Communications 294 (4): 791–7. Jun 2002. doi:10.1016/S0006-291X(02)00556-9. PMID 12061776. 
  12. ↑ "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. Jul 1999. doi:10.1006/dbio.1999.9307. PMID 10395786. 
  13. ↑ Online Mendelian Inheritance in Man (OMIM) 613443
  14. ↑ "Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C". American Journal of Medical Genetics Part B 153B (5): 1042–51. Jul 2010. doi:10.1002/ajmg.b.31071. PMID 20333642. 
  15. ↑ "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): 515. Nov 2016. doi:10.3389/fimmu.2016.00515. PMID 27909439. 

Further reading

External links



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