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
Gene ontology
Molecular function	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • DNA binding; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • histone deacetylase binding; • protein dimerization activity; • RNA polymerase II regulatory region sequence-specific DNA binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• cell nucleus; • transcription factor complex; • nuclear chromatin;
Biological process	• muscle organ development; • regulation of transcription, DNA-templated; • transcription, DNA-templated; • transcription from RNA polymerase II promoter; • positive regulation of transcription from RNA polymerase II promoter;
	Sources:Amigo / QuickGO
Orthologs
	4207
	n/a
	n/a
	n/a
	Q02080
	n/a
	NM_005919
	n/a
	NP_001139257; NP_001354211; NP_005910.1
	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]

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References

"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. 467 (3): 345–355. doi:10.1007/s00428-015-1796-6. ISSN 1432-2307. PMID 26089142.
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.
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.
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.
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.
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.
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.
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" (PDF). Nature. 476 (7360): 298–303. doi:10.1038/nature10351. PMC 3210554. PMID 21796119.
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.

External links

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

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[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[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. 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.

[:0-4] 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.

[:1-6] 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.

[pmid12700764-7] 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.

[pmid10531067-8] 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.

[MorinMendez-Lago2011-9] 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" (PDF). Nature. 476 (7360): 298–303. doi:10.1038/nature10351. PMC 3210554. PMID 21796119.

[:2-10] 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.