protein
Myocyte-specific enhancer factor 2C
Gene
MEF2C
Organism
Homo sapiens(9606)
Length
473 aa
Mass
51,221 Da
MEF2C (Myocyte-specific enhancer factor 2C) is a transcription activator that binds to MEF2 regulatory elements controlling muscle-specific genes (UniProt: Q06413). Beyond myogenesis and cardiac morphogenesis, it plays critical roles in hippocampal-dependent learning and memory by suppressing excitatory synapse numbers and regulating synaptic transmission. The protein is also essential for neocortical neuronal development, distribution, and electrical activity.
MEF2C functions in multiple developmental contexts including vascular development, megakaryocyte and platelet development, and B-lymphopoiesis (UniProt: Q06413). It is required for B-cell survival and proliferation following BCR stimulation and normal germinal center induction. Disease-associated mutations cause Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL), an autosomal dominant condition marked by intellectual disability, absent speech, hypotonia, stereotypic movements, and characteristic dysmorphic features including high broad forehead, short nose, and upslanted palpebral fissures, with seizures in some patients.
MEF2C is classified as a syndromic autism spectrum disorder risk gene (SFARI Cat S, SFARI Cat syndromic), reflecting its association with neurodevelopmental disorders involving autism-related features and broader developmental impairments.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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
Disease associations
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageNEDHSIL
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.
Sources
Last updated 5/6/2026, 5:24:56 AM