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MEF2C

Developmental stage

Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.

Domain

The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.

Function

Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. 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. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1.

Involvement in disease

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

NEDHSIL

An autosomal dominant disorder characterized by impaired intellectual development, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylation on Ser-59 enhances DNA binding activity (By similarity). Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.

Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation (By similarity).

Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.

Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.

Sequence Similarities

Belongs to the MEF2 family.

Tissue Specificity

Expressed in brain and skeletal muscle.

Cellular localization

Alternative names

Myocyte-specific enhancer factor 2C, Myocyte enhancer factor 2C, MEF2C

swissprot:Q06413 omim:600660 omim:600662 swissprot:Q02078 entrezGene:4205 entrezGene:4208

Other research areas