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
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

Related Research Articles

MyoD

MyoD, also known as myoblast determination protein 1, is a protein in animals that plays a major role in regulating muscle differentiation. MyoD, which was discovered in the laboratory of Harold M. Weintraub, belongs to a family of proteins known as myogenic regulatory factors (MRFs). These bHLH transcription factors act sequentially in myogenic differentiation. Vertebrate MRF family members include MyoD1, Myf5, myogenin, and MRF4 (Myf6). In non-vertebrate animals, a single MyoD protein is typically found.

Myogenesis Formation of muscular tissue, particularly during embryonic development

Myogenesis is the formation of skeletal muscular tissue, particularly during embryonic development.

Mef2

In the field of molecular biology, myocyte enhancer factor-2 (Mef2) proteins are a family of transcription factors which through control of gene expression are important regulators of cellular differentiation and consequently play a critical role in embryonic development. In adult organisms, Mef2 proteins mediate the stress response in some tissues. Mef2 proteins contain both MADS-box and Mef2 DNA-binding domains.

mir-133 microRNA precursor family

mir-133 is a type of non-coding RNA called a microRNA that was first experimentally characterised in mice. Homologues have since been discovered in several other species including invertebrates such as the fruitfly Drosophila melanogaster. Each species often encodes multiple microRNAs with identical or similar mature sequence. For example, in the human genome there are three known miR-133 genes: miR-133a-1, miR-133a-2 and miR-133b found on chromosomes 18, 20 and 6 respectively. The mature sequence is excised from the 3' arm of the hairpin. miR-133 is expressed in muscle tissue and appears to repress the expression of non-muscle genes.

FOXP1

Forkhead box protein P1 is a protein that in humans is encoded by the FOXP1 gene. FOXP1 is necessary for the proper development of the brain, heart, and lung in mammals. It is a member of the large FOX family of transcription factors.

TEAD2

TEAD2, together with TEAD1, defines a novel family of transcription factors, the TEAD family, highly conserved through evolution. TEAD proteins were notably found in Drosophila (Scalloped), C. elegans, S. cerevisiae and A. nidulans. TEAD2 has been less studied than TEAD1 but a few studies revealed its role during development.

NFATC2

Nuclear factor of activated T-cells, cytoplasmic 2 is a protein that in humans is encoded by the NFATC2 gene.

HDAC4

Histone deacetylase 4, also known as HDAC4, is a protein that in humans is encoded by the HDAC4 gene.

MEF2C

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. MEF2C is a transcription factor in the Mef2 family.

CBFB

Core-binding factor subunit beta is a protein that in humans is encoded by the CBFB gene.

Myocyte-specific enhancer factor 2A

Myocyte-specific enhancer factor 2A is a protein that in humans is encoded by the MEF2A gene. MEF2A is a transcription factor in the Mef2 family. In humans it is located on chromosome 15q26. Certain mutations in MEF2A cause an autosomal dominant form of coronary artery disease and myocardial infarction.

HDAC9

Histone deacetylase 9 is an enzyme that in humans is encoded by the HDAC9 gene.

MYH10

Myosin-10 also known as myosin heavy chain 10 or non-muscle myosin IIB (NM-IIB) is a protein that in humans is encoded by the MYH10 gene. Non-muscle myosins are expressed in a wide variety of tissues, but NM-IIB is the only non-muscle myosin II isoform expressed in cardiac muscle, where it localizes to adherens junctions within intercalated discs. NM-IIB is essential for normal development of cardiac muscle and for integrity of intercalated discs. Mutations in MYH10 have been identified in patients with left atrial enlargement.

MEF2D

Myocyte-specific enhancer factor 2D is a protein that in humans is encoded by the MEF2D gene.

TEAD1

Transcriptional enhancer factor TEF-1 also known as TEA domain family member 1 (TEAD1) and transcription factor 13 (TCF-13) is a protein that in humans is encoded by the TEAD1 gene. TEAD1 was the first member of the TEAD family of transcription factors to be identified.

IFRD1

Interferon-related developmental regulator 1 is a protein that in humans is encoded by the IFRD1 gene. The gene is expressed mostly in neutrophils, skeletal and cardiac muscle, the brain, and the pancreas. The rat and the mouse homolog genes of interferon-related developmental regulator 1 gene are also known with the name PC4 and Tis21, respectively. IFRD1 is member of a gene family that comprises a second gene, IFRD2, also known as SKmc15.

CABIN1

Calcineurin-binding protein cabin-1 is a protein that in humans is encoded by the CABIN1 gene.

SLC2A4RG

SLC2A4 regulator is a protein that in humans is encoded by the SLC2A4RG gene.

PPP3CA

Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform (PP2BA) is a protein that in humans is encoded by the PPP3CA gene.

KLF15

Krüppel-like factor 15 is a protein that in humans is encoded by the KLF15 gene in the Krüppel-like factor family. Its former designation KKLF stands for kidney-enriched Krüppel-like factor.

References

  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. S2CID   25535467.
  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. 1 2 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. Bibcode:2011PLoSO...617334W. 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. S2CID   2819535.
  6. 1 2 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. Bibcode:2003Natur.422..730H. doi:10.1038/nature01555. PMID   12700764. S2CID   4430658.
  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" (PDF). Nature. 476 (7360): 298–303. Bibcode:2011Natur.476..298M. doi:10.1038/nature10351. PMC   3210554 . PMID   21796119.
  10. 1 2 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