MEF2A Gene
Myocyte Enhancer Factor 2A: A Key Regulator of Cardiac Development and Coronary Artery Disease
Gene Information Card
| Symbol | MEF2A |
|---|---|
| Full Name | Myocyte Enhancer Factor 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 4205 ncbi.nlm.nih.gov/gene/4205 |
| Ensembl ID | ENSG00000168314 |
| UniProt ID | Q02078 |
| OMIM ID | 600660 |
| HGNC ID | 6995 |
| Aliases | MEF2, RSRFC4, RSRFC9 |
Description
MEF2A (myocyte enhancer factor 2A) is a transcription factor that belongs to the MEF2 family, which includes MEF2A, MEF2B, MEF2C, and MEF2D. It plays a critical role in cardiac and skeletal muscle development, differentiation, and function. MEF2A regulates gene expression by binding to MEF2 response elements in the promoters of target genes. Mutations in MEF2A have been associated with coronary artery disease (CAD) and myocardial infarction. The gene is expressed in multiple tissues, with highest levels in heart, skeletal muscle, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary Artery Disease (CAD) | MEF2A mutations (e.g., 7-amino acid deletion) disrupt transcription factor function, impairing vascular smooth muscle cell proliferation and leading to atherosclerosis. | ClinVar, OMIM |
| Myocardial Infarction | Loss-of-function mutations in MEF2A increase susceptibility to myocardial infarction by altering cardiac gene expression. | OMIM, NCBI |
| Cardiomyopathy | MEF2A dysregulation affects cardiac hypertrophy and remodeling pathways. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Brain | 22.1 | Medium |
| Lung | 8.5 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 52.0 | High expression in heart muscle cells |
| Skeletal muscle myoblasts | 41.5 | High expression during differentiation |
| Endothelial cells | 12.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1057_1063del (7-aa deletion) | Deletion | Rare | Loss of function; associated with CAD |
| p.Pro279Leu | Missense | Rare | Reduced DNA binding affinity |
| p.Arg319Trp | Missense | Rare | Impaired transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
MEF2A mutations (e.g., 7-aa deletion) reduce or abolish transcriptional activation of target genes, leading to impaired cardiac and vascular function.
Gain of Function (GOF)
Not reported for MEF2A.
Dominant Negative (DN)
Some MEF2A mutants can interfere with wild-type MEF2A function, acting in a dominant-negative manner to suppress MEF2 target gene expression.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| • cardiac muscle cell development | • skeletal muscle cell differentiation |
| • positive regulation of transcription by RNA polymerase II |
Pathways
• MEF2 signaling pathway
• Cardiac muscle contraction
• MAPK signaling pathway
• Calcium signaling pathway
Protein Summary
MEF2A is a 507-amino acid protein that contains an N-terminal MADS-box domain and a MEF2 domain, which mediate DNA binding and dimerization. It forms homodimers or heterodimers with other MEF2 family members. The protein is phosphorylated by various kinases (e.g., p38 MAPK, CaMK) to regulate its activity. MEF2A is essential for cardiac morphogenesis and myogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEF2A Knockout HEK293 Cell Line | EDJ-KQ874 | Human | 4205 | Details Get a Quote |
| MEF2A Knockout A-549 Cell Line | EDJ-KQ21019 | Human | 4205 | Details Get a Quote |
| MEF2A Knockout HCT 116 Cell Line | EDJ-KQ21020 | Human | 4205 | Details Get a Quote |
| MEF2A Knockout HeLa Cell Line | EDJ-KQ21021 | Human | 4205 | Details Get a Quote |
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