MEF2B

Description

The MEF2B (myocyte enhancer factor 2B) is a protein-coding gene located on chromosome 19.

MEF2B is a transcription factor belonging to the MEF2 gene family, which also includes MEF2A, MEF2C, and MEF2D. However, MEF2B is distinct from the other three MEF2 genes as it lacks the HJURP_C region found in vertebrates. The MEF2 family is involved in muscle-specific gene activation and maintenance during development. MEF2B mRNA is expressed in various muscle tissues, including skeletal, smooth, brain, and heart muscles. MEF2B directly regulates the SMHC (smooth muscle myosin heavy chain) gene. When overexpressed, MEF2B binds to the A/T-rich element in the SMHC promoter, activating its transcription. MEF2B has been shown to interact with CABIN1. Mutations in MEF2B are linked to cases of diffuse large B-cell lymphoma. These mutations can deregulate the expression of the BCL6 proto-oncogene in DLBCL. Notably, MEF2B mutations enhance its transcriptional activity, either by disrupting its interaction with the corepressor CABIN1 or by rendering the gene insensitive to inhibitory signaling events.

MEF2B is also known as RSRFR2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing