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, RSRFR2
External IDs	GeneCards: BORCS8-MEF2B; OMA:BORCS8-MEF2B - orthologs
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific histone deacetylase binding protein dimerization activity RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus transcription regulator complex Biological process muscle organ development regulation of transcription, DNA-templated transcription, DNA-templated transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II 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 NP_001354211 NP_005910.1 n/a Location (UCSC) n/a 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] In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL).^[10] 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.^[10]

See also

• Mef2

References

1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
2. Krenács D, Borbényi Z, Bedekovics J, Méhes G, Bagdi E, Krenács L (September 2015). "Pattern of MEF2B expression in lymphoid tissues and in malignant lymphomas". Virchows Archiv. 467 (3): 345–355. doi:10.1007/s00428-015-1796-6. PMID 26089142. S2CID 25535467.
3. Rodríguez AI, Csányi G, Ranayhossaini DJ, Feck DM, Blose KJ, Assatourian L, et al. (February 2015). "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. PMC 4409426. PMID 25550204.
4. Wu W, de Folter S, Shen X, Zhang W, Tao S (March 2011). "Vertebrate paralogous MEF2 genes: origin, conservation, and evolution". PLOS ONE. 6 (3): e17334. Bibcode:2011PLoSO...617334W. doi:10.1371/journal.pone.0017334. PMC 3048864. PMID 21394201.
5. Buchberger A, Arnold HH (June 1999). "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. PMID 10370120. S2CID 2819535.
6. Katoh Y, Molkentin JD, Dave V, Olson EN, Periasamy M (January 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): 1511–1518. doi:10.1074/jbc.273.3.1511. PMID 9430690.
7. Han A, Pan F, Stroud JC, Youn HD, Liu JO, Chen L (April 2003). "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2". Nature. 422 (6933): 730–734. Bibcode:2003Natur.422..730H. doi:10.1038/nature01555. PMID 12700764. S2CID 4430658.
8. Youn HD, Sun L, Prywes R, Liu JO (October 1999). "Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2". Science. 286 (5440): 790–793. 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. (July 2011). "Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma". Nature. 476 (7360): 298–303. Bibcode:2011Natur.476..298M. doi:10.1038/nature10351. PMC 3210554. PMID 21796119.
10. Ying CY, Dominguez-Sola D, Fabi M, Lorenz IC, Hussein S, Bansal M, et al. (October 2013). "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. PMC 3954820. PMID 23974956.

Further reading

• Yu YT, Breitbart RE, Smoot LB, Lee Y, Mahdavi V, Nadal-Ginard B (September 1992). "Human myocyte-specific enhancer factor 2 comprises a group of tissue-restricted MADS box transcription factors". Genes & Development. 6 (9): 1783–1798. doi:10.1101/gad.6.9.1783. PMID 1516833.
• Pollock R, Treisman R (December 1991). "Human SRF-related proteins: DNA-binding properties and potential regulatory targets". Genes & Development. 5 (12A): 2327–2341. doi:10.1101/gad.5.12a.2327. PMID 1748287.
• Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (October 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): 704–711. doi:10.1006/geno.1995.9007. PMID 8575763.
• Katoh Y, Molkentin JD, Dave V, Olson EN, Periasamy M (January 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): 1511–1518. doi:10.1074/jbc.273.3.1511. PMID 9430690.
• Iida K, Hidaka K, Takeuchi M, Nakayama M, Yutani C, Mukai T, et al. (January 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 (October 1999). "Apoptosis of T cells mediated by Ca2+-induced release of the transcription factor MEF2". Science. 286 (5440): 790–793. doi:10.1126/science.286.5440.790. PMID 10531067.
• Li M, Linseman DA, Allen MP, Meintzer MK, Wang X, Laessig T, et al. (September 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): 6544–6552. doi:10.1523/JNEUROSCI.21-17-06544.2001. PMC 6763101. PMID 11517243.
• Han A, Pan F, Stroud JC, Youn HD, Liu JO, Chen L (April 2003). "Sequence-specific recruitment of transcriptional co-repressor Cabin1 by myocyte enhancer factor-2". Nature. 422 (6933): 730–734. Bibcode:2003Natur.422..730H. doi:10.1038/nature01555. PMID 12700764. S2CID 4430658.
• Konig S, Hinard V, Arnaudeau S, Holzer N, Potter G, Bader CR, et al. (July 2004). "Membrane hyperpolarization triggers myogenin and myocyte enhancer factor-2 expression during human myoblast differentiation". The Journal of Biological Chemistry. 279 (27): 28187–28196. doi:10.1074/jbc.M313932200. PMID 15084602.
• Han A, He J, Wu Y, Liu JO, Chen L (January 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 (February 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 U.S. National Library of Medicine Medical Subject Headings (MeSH)