MEF2A
Chr 15ADmyocyte enhancer factor 2A
Also known as: ADCAD1, RSRFC4, RSRFC9, mef2
MEF2A encodes a DNA-binding transcription factor that activates muscle-specific, growth factor-induced, and stress-induced genes, and plays critical roles in muscle development, neuronal differentiation, cell growth control, and apoptosis. Mutations cause autosomal dominant coronary artery disease with myocardial infarction, primarily affecting the cardiovascular system. This gene is highly constrained against loss-of-function variants (pLI 0.99), indicating that such mutations are likely to have severe consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to loss-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MEF2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools