MEF2C Gene: Myocyte Enhancer Factor 2C
A key transcription factor in neurodevelopment, myogenesis, and immune regulation; associated with MEF2C haploinsufficiency syndrome and implicated in various cancers.
Gene Information Card
| Symbol | MEF2C |
|---|---|
| Full Name | Myocyte Enhancer Factor 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.3 |
| NCBI Gene ID | 4208 ncbi.nlm.nih.gov/gene/4208 |
| Ensembl ID | ENSG00000081189 |
| UniProt ID | Q06416 |
| OMIM ID | 600662 |
| HGNC ID | 6996 |
| Aliases | MEF2, MEF2C, MGC105367, MGC20332, MEF2C_HUMAN |
Description
MEF2C (Myocyte Enhancer Factor 2C) is a transcription factor that plays a critical role in development and differentiation of multiple tissues, including muscle, brain, and immune cells. It belongs to the MEF2 family of MADS-box transcription factors. MEF2C regulates gene expression by binding to A/T-rich DNA sequences (MEF2 response elements) and interacting with co-activators and co-repressors. It is essential for neuronal development, synaptic plasticity, and myogenesis. Mutations and deletions of MEF2C are associated with MEF2C haploinsufficiency syndrome, a neurodevelopmental disorder. Additionally, altered MEF2C expression is implicated in various cancers and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MEF2C Haploinsufficiency Syndrome | Loss-of-function mutations or deletions of one allele lead to reduced MEF2C dosage, disrupting neuronal gene expression and development. | ClinVar, OMIM |
| Autism Spectrum Disorder | MEF2C variants are associated with ASD risk; altered MEF2C activity affects synaptic gene expression. | ClinVar, OMIM |
| Intellectual Disability | MEF2C mutations cause intellectual disability, often with seizures and behavioral issues. | ClinVar, OMIM |
| Acute Myeloid Leukemia | MEF2C is overexpressed in some AML subtypes, promoting leukemogenesis via transcriptional activation of oncogenes. | COSMIC, PubMed |
| Cardiomyopathy | MEF2C dysregulation affects cardiac gene expression, contributing to hypertrophic and dilated cardiomyopathy. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in cerebral cortex and cerebellum |
| Skeletal Muscle | High | Key regulator of muscle differentiation |
| Heart | High | Essential for cardiac morphogenesis |
| Lung | Low | Minimal expression |
| Liver | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal model; MEF2C regulates differentiation |
| C2C12 (myoblast) | High | Myogenic differentiation model |
| K562 (leukemia) | Medium | MEF2C expression in myeloid lineage |
| HeLa (cervical carcinoma) | Low | Low expression |
| MCF7 (breast cancer) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of function; associated with MEF2C haploinsufficiency syndrome |
| c.379C>T (p.Arg127*) | Nonsense | Rare | Premature stop; loss of function |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Dominant negative effect; impaired DNA binding |
| Whole gene deletion | Copy number variant | Rare | Haploinsufficiency; severe phenotype |
| c.872G>A (p.Arg291Gln) | Missense | Rare | Loss of function; reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Most MEF2C mutations are loss-of-function, leading to haploinsufficiency. These include nonsense, frameshift, and missense mutations that impair DNA binding or transactivation.
Gain of Function (GOF)
Gain-of-function mutations are rare but have been reported in some cancers, leading to increased transcriptional activity and oncogenic potential.
Dominant Negative (DN)
Some missense mutations in the MADS-box domain act as dominant-negative, interfering with wild-type MEF2C function by forming non-functional dimers.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Protein dimerization activity | • Chromatin binding |
| • Transcription coregulator binding | • Nucleus |
| • Regulation of transcription by RNA polymerase II | • Nervous system development |
| • Skeletal muscle cell differentiation | • Cardiac muscle cell differentiation |
Pathways
• MAPK signaling pathway
• Calcium signaling pathway
• Neurotrophin signaling pathway
• Long-term potentiation
• Cardiac muscle contraction
• Transcriptional regulation by MEF2C
Protein Summary
MEF2C is a 473-amino acid protein with a conserved MADS-box domain at the N-terminus and a MEF2-specific domain, followed by a transactivation domain. It forms homo- and heterodimers with other MEF2 family members. The protein is post-translationally modified by phosphorylation, sumoylation, and acetylation, which regulate its activity. MEF2C interacts with various cofactors, including histone acetyltransferases (e.g., p300) and deacetylases (e.g., HDACs), to modulate chromatin structure and gene expression. In the brain, MEF2C regulates genes involved in synapse development and plasticity. In muscle, it cooperates with MyoD to drive myogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEF2C Knockout HEK293 Cell Line | EDJ-KQ712 | Human | 4208 | Details Get a Quote |
| MEF2C Knockout HCT 116 Cell Line | EDJ-KQ19310 | Human | 4208 | Details Get a Quote |
| MEF2C Knockout HeLa Cell Line | EDJ-KQ19311 | Human | 4208 | Details Get a Quote |
| MEF2C Knockout A-549 Cell Line | EDJ-KQ62347 | Human | 4208 | Details Get a Quote |
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