| BORCS8-MEF2B | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BORCS8-MEF2B , LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B, BORCS8-MEF2B readthrough, RSRFR2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: BORCS8-MEF2B; OMA:BORCS8-MEF2B - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
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]
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]