MEF2B

BORCS8-MEF2B
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1N6J, 1TQE
Identifiers
Aliases	BORCS8-MEF2B, LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B, BORCS8-MEF2B readthrough
External IDs	GeneCards: BORCS8-MEF2B
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • histone deacetylase binding • protein dimerization activity Cellular component • nucleus • transcription factor complex Biological process • muscle organ development • regulation of transcription, DNA-templated • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4207	n/a
Ensembl	ENSG00000064489	n/a
UniProt	Q02080	n/a
RefSeq (mRNA)	NM_005919	n/a
RefSeq (protein)	NP_001139257.1 NP_005910.1 NP_005910.1	n/a
Location (UCSC)	Chr 19: 19.15 – 19.19 Mb	n/a
PubMed search	[1]	n/a
Wikidata

View/Edit Human

Myocyte enhancer binding factor 2B (MEF2B) is a transcription factor part of the MEF2 gene family including MEF2A, MEF2C, and MEF2D.^[2][3] However, MEF2B is distant from the other three branches of MEF2 genes as it lacks the protein-coding Holliday junction recognition protein C-terminal (HJURP_C) region in vertebrates.^[4]

Functions

The MEF2 gene family is expressed in muscle-specific gene activation and maintenance during development.^[4][5] MEF2B mRNA is present in skeletal, smooth, brain and heart muscles.^[6] MEF2B is directly involved in smooth muscle myosin heavy chain (SMHC) gene regulation. Overexpression of MEF2B will activate the SMHC promoter in smooth muscle when it is bound to the A/T-rich element of the promoter.^[6]

Interactions

MEF2B has been shown to interact with CABIN1.^[7][8]

Clinical relevance

Recurrent mutations in this gene have been associated with cases of diffuse large B-cell lymphoma.^[9][10] In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL).^[11] Mutations of MEF2B enhance its transcriptional activity due to either a disruption with its corepressor CABIN1 or causing the gene to become insensitive to inhibitory signaling events.^[11]

See also

• Mef2

References

1. "Human PubMed Reference:".
2. Krenács, Dóra; Borbényi, Zita; Bedekovics, Judit; Méhes, Gábor; Bagdi, Enikő; Krenács, László (2015-09-01). "Pattern of MEF2B expression in lymphoid tissues and in malignant lymphomas". Virchows Archiv: An International Journal of Pathology. 467 (3): 345–355. doi:10.1007/s00428-015-1796-6. ISSN 1432-2307. PMID 26089142.
3. Rodríguez, Andrés I.; Csányi, Gábor; Ranayhossaini, Daniel J.; Feck, Douglas M.; Blose, Kory J.; Assatourian, Lillian; Vorp, David A.; Pagano, Patrick J. (2015-02-01). "MEF2B-Nox1 signaling is critical for stretch-induced phenotypic modulation of vascular smooth muscle cells". Arteriosclerosis, Thrombosis, and Vascular Biology. 35 (2): 430–438. doi:10.1161/ATVBAHA.114.304936. ISSN 1524-4636. PMC 4409426. PMID 25550204.
4. Wu, Wenwu; de Folter, Stefan; Shen, Xia; Zhang, Wenqian; Tao, Shiheng (2011-01-01). "Vertebrate paralogous MEF2 genes: origin, conservation, and evolution". PloS One. 6 (3): e17334. doi:10.1371/journal.pone.0017334. ISSN 1932-6203. PMC 3048864. PMID 21394201.
5. Buchberger, A.; Arnold, H. H. (1999-06-01). "The MADS domain containing transcription factor cMef2a is expressed in heart and skeletal muscle during embryonic chick development". Development Genes and Evolution. 209 (6): 376–381. doi:10.1007/s004270050267. ISSN 0949-944X. PMID 10370120.
6. Katoh, Y.; Molkentin, J. D.; Dave, V.; Olson, E. N.; Periasamy, M. (1998-01-16). "MEF2B is a component of a smooth muscle-specific complex that binds an A/T-rich element important for smooth muscle myosin heavy chain gene expression". The Journal of Biological Chemistry. 273 (3): 1511–1518. doi:10.1074/jbc.273.3.1511. ISSN 0021-9258. PMID 9430690.
7. Han A, Pan F, Stroud JC, Youn HD, Liu JO, Chen L (Apr 2003). "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2". Nature. 422 (6933): 730–4. doi:10.1038/nature01555. PMID 12700764.
8. Youn HD, Sun L, Prywes R, Liu JO (Oct 1999). "Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2". Science. 286 (5440): 790–3. doi:10.1126/science.286.5440.790. PMID 10531067.
9. Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, et al. (Aug 2011). "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature. 476 (7360): 298–303. doi:10.1038/nature10351. PMC 3210554. PMID 21796119.
10. Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, et al. (Mar 2012). "Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United States of America. 109 (10): 3879–84. doi:10.1073/pnas.1121343109. PMC 3309757. PMID 22343534.
11. Ying, Carol Y.; Dominguez-Sola, David; Fabi, Melissa; Lorenz, Ivo C.; Hussein, Shafinaz; Bansal, Mukesh; Califano, Andrea; Pasqualucci, Laura; Basso, Katia (2013-10-01). "MEF2B mutations lead to deregulated expression of the oncogene BCL6 in diffuse large B cell lymphoma". Nature Immunology. 14 (10): 1084–1092. doi:10.1038/ni.2688. ISSN 1529-2916. PMC 3954820. PMID 23974956.

Further reading

• Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V, Nadal-Ginard B (Sep 1992). "Human myocyte-specific enhancer factor 2 comprises a group of tissue-restricted MADS box transcription factors". Genes & Development. 6 (9): 1783–98. doi:10.1101/gad.6.9.1783. PMID 1516833.
• Pollock R, Treisman R (Dec 1991). "Human SRF-related proteins: DNA-binding properties and potential regulatory targets". Genes & Development. 5 (12A): 2327–41. doi:10.1101/gad.5.12a.2327. PMID 1748287.
• Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (Oct 1995). "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.
• Katoh Y, Molkentin JD, Dave V, Olson EN, Periasamy M (Jan 1998). "MEF2B is a component of a smooth muscle-specific complex that binds an A/T-rich element important for smooth muscle myosin heavy chain gene expression". The Journal of Biological Chemistry. 273 (3): 1511–8. doi:10.1074/jbc.273.3.1511. PMID 9430690.
• Iida K, Hidaka K, Takeuchi M, Nakayama M, Yutani C, Mukai T, Morisaki T (Jan 1999). "Expression of MEF2 genes during human cardiac development". The Tohoku Journal of Experimental Medicine. 187 (1): 15–23. doi:10.1620/tjem.187.15. PMID 10458488.
• Youn HD, Sun L, Prywes R, Liu JO (Oct 1999). "Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2". Science. 286 (5440): 790–3. doi:10.1126/science.286.5440.790. PMID 10531067.
• Li M, Linseman DA, Allen MP, Meintzer MK, Wang X, Laessig T, Wierman ME, Heidenreich KA (Sep 2001). "Myocyte enhancer factor 2A and 2D undergo phosphorylation and caspase-mediated degradation during apoptosis of rat cerebellar granule neurons". The Journal of Neuroscience. 21 (17): 6544–52. PMID 11517243.
• Han A, Pan F, Stroud JC, Youn HD, Liu JO, Chen L (Apr 2003). "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2". Nature. 422 (6933): 730–4. doi:10.1038/nature01555. PMID 12700764.
• Konig S, Hinard V, Arnaudeau S, Holzer N, Potter G, Bader CR, Bernheim L (Jul 2004). "Membrane hyperpolarization triggers myogenin and myocyte enhancer factor-2 expression during human myoblast differentiation". The Journal of Biological Chemistry. 279 (27): 28187–96. doi:10.1074/jbc.M313932200. PMID 15084602.
• Han A, He J, Wu Y, Liu JO, Chen L (Jan 2005). "Mechanism of recruitment of class II histone deacetylases by myocyte enhancer factor-2". Journal of Molecular Biology. 345 (1): 91–102. doi:10.1016/j.jmb.2004.10.033. PMID 15567413.
• Gong X, Tsai SW, Yan B, Rubin LP (2006). "Cooperation between MEF2 and PPARgamma in human intestinal beta,beta-carotene 15,15'-monooxygenase gene expression". BMC Molecular Biology. 7: 7. doi:10.1186/1471-2199-7-7. PMC 1526748. PMID 16504037.

External links

• MEF2B protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)