MEF2C

Description

The MEF2C (myocyte enhancer factor 2C) is a protein-coding gene located on chromosome 5.

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. The gene is located at 5q14.3 on the minus (Crick) strand and is 200,723 bases in length. The encoded protein has 473 amino acids with a predicted molecular weight of 51.221 kilodaltons. Three isoforms have been identified. Several post translational modifications have been identified including phosphorylation on serine-59 and serine-396, sumoylation on lysine-391, acetylation on lysine-4 and proteolytic cleavage. MEF2C has been shown to interact with SETD1A. This gene is involved in cardiac morphogenesis and myogenesis and vascular development. It may also be involved in neurogenesis and in the development of cortical architecture. Mice without a functional copy of the Mef2c gene die before birth and have abnormalities in the heart and vascular system. It is one of the targets of an oncomiR, MIRN21.

MEF2C is a transcription activator that binds specifically to the MEF2 element found in the regulatory regions of many muscle-specific genes. It plays a role in controlling cardiac morphogenesis and myogenesis, and is also involved in vascular development. MEF2C enhances transcriptional activation mediated by SOX18. It is essential for hippocampal-dependent learning and memory by suppressing the number of excitatory synapses, which regulates basal and evoked synaptic transmission. MEF2C is crucial for normal neuronal development, distribution, and electrical activity in the neocortex. It is necessary for the proper development of megakaryocytes and platelets, as well as for bone marrow B-lymphopoiesis. MEF2C is required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens, and for normal induction of germinal center B-cells. It may also be involved in neurogenesis and the development of cortical architecture. Isoforms that lack the repressor domain are more active than isoform 1.

MEF2C is also known as C5DELq14.3, DEL5q14.3, NEDHSIL.

Associated Diseases

• 5q14.3 microdeletion syndrome
• Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language