Myocyte enhancer binding factor 2B (MEF2B) is a transcription factor part of the MEF2 gene family including
MEF2A
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 d ...
,
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.
Genomics
The gene is l ...
, and
MEF2D
Myocyte-specific enhancer factor 2D is a protein that in humans is encoded by the ''MEF2D'' gene.
Interactions
MEF2D has been shown to interact with:
* CABIN1,
* EP300,
* MAPK7,
* Myocyte-specific enhancer factor 2A,
* NFATC2
* Sp1 transcri ...
. 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.
Functions
The MEF2 gene family is expressed in muscle-specific gene activation and maintenance during development.
MEF2B mRNA is present in skeletal, smooth, brain and heart muscles.
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.
Interactions
MEF2B has been shown to
interact
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with
CABIN1
Calcineurin-binding protein cabin-1 is a protein that in humans is encoded by the ''CABIN1'' gene.
Function
Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds ...
.
Clinical relevance
Recurrent mutations in this gene have been associated with cases of
diffuse large B-cell lymphoma
Diffuse large B-cell lymphoma (DLBCL) is a cancer of B cells, a type of lymphocyte that is responsible for producing antibody, antibodies. It is the most common form of non-Hodgkin lymphoma among adults, with an annual Incidence (epidemiology), in ...
.
In its mutated form, MEF2B can lead to deregulation of the proto-oncogene BCL6 expression in diffuse large B-cell lymphomas (DLBCL).
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.
See also
*
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 rol ...
References
Further reading
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External links
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Transcription factors
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