MEF2B

Last updated

BORCS8-MEF2B
Protein MEF2B PDB 1egw.png
Available structures
PDB Human UniProt search: PDBe RCSB
Identifiers
Aliases BORCS8-MEF2B , LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B, BORCS8-MEF2B readthrough, RSRFR2
External IDs GeneCards: BORCS8-MEF2B; OMA:BORCS8-MEF2B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005919

n/a

RefSeq (protein)

NP_001139257
NP_001354211
NP_005910.1

n/a

Location (UCSC)n/an/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]

Contents

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

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" (PDF). Virchows Archiv. 467 (3): 345–355. doi:10.1007/s00428-015-1796-6. hdl:2437/228501. 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. 1 2 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. 1 2 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. 1 2 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