HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MEF2C
myocyte enhancer factor 2C
Chromosome 5 Β· 5q14.3
NCBI Gene: 4208Ensembl: ENSG00000081189.17HGNC: HGNC:6996UniProt: A0A0D9SFD0
240PubMed Papers
21Diseases
0Drugs
120Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuspositive regulation of DNA-templated transcriptionpositive regulation of transcription by RNA polymerase IIminor groove of adenine-thymine-rich DNA bindingneurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageautism spectrum disorder5q14.3 microdeletion syndromegenetic disorder
✦AI Summary

MEF2C is a transcription factor with critical roles across multiple biological systems. In cardiac development, MEF2C controls segment-specific gene regulatory networks essential for heart tube morphogenesis, with loss of function resulting in cardiac malformations partly driven by aberrant NR2F2 activity 1. MEF2C also functions as a master regulator of heart valve cell differentiation, acting as a key switch gene during endocardial-mesenchymal transition 2. Beyond cardiac tissue, MEF2C serves as a crucial immune checkpoint maintaining microglial homeostasis through the MEF2C-p21-CDK2-RB-NFΞΊB axis, preventing pathological microglial overactivation implicated in autism spectrum disorder 3. MEF2C loss in human microglia induces hyperinflammation, phagocytic impairment, and lipid accumulation, with substantial overlap to idiopathic autism pathology 4. Additionally, MEF2C regulates natural killer cell effector functions by controlling lipid metabolism through sterol regulatory element-binding protein pathways, and MEF2C-haploinsufficient patients exhibit defective NK cell development and increased viral susceptibility 5. In cancer immunology, MEF2C maintains VSIG4 expression in tumor-associated macrophages, promoting immunosuppression that can be therapeutically targeted 6. In meningioma, MEF2C transcriptionally drives NF2 and E-cadherin expression, controlling ferroptosis susceptibility 7. Clinically, MEF2C haploinsufficiency causes severe neurodevelopmental disorder characterized by intellectual disability, refractory epilepsy, stereotypic movements, and brain abnormalities 8.

Sources cited
1
MEF2C restrains microglial overactivation via the MEF2C-p21-CDK2-RB-NFΞΊB axis and CDK2 inhibition ameliorates ASD-like behaviors
PMID: 40139186
2
MEF2C transcriptionally drives NF2 and E-cadherin expression, controlling ferroptosis susceptibility in meningioma
PMID: 33984142
3
MEF2C is a master regulator of human NK cell function through SREBP-mediated lipid metabolism; MEF2C-haploinsufficient patients have defective NK cell development and increased viral susceptibility
PMID: 38589619
4
MEF2C is a key switch gene mediating heart valve cell differentiation from hiPSCs and endocardial-mesenchymal transition
PMID: 38357822
5
MEF2C controls segment-specific gene regulatory networks directing heart tube morphogenesis; loss of function causes posteriorized cardiac gene signature and malformations partly driven by NR2F2
PMID: 40883017
6
MEF2C loss in human microglia causes hyperinflammatory phenotype with phagocytic impairment, lipid accumulation, and lysosomal dysfunction; substantial overlap with idiopathic autism pathology
PMID: 41125877
7
MEF2C is a key transcription factor maintaining VSIG4 expression in tumor-associated macrophages; targeting MEF2C enhances immune checkpoint inhibitor efficacy
PMID: 40339578
8
MEF2C haploinsufficiency syndrome causes severe intellectual disability, refractory epilepsy, stereotypic movements, and brain abnormalities
PMID: 27255693
Disease Associationsβ“˜21
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageOpen Targets
0.78Strong
autism spectrum disorderOpen Targets
0.55Moderate
5q14.3 microdeletion syndromeOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.49Moderate
hypertensionOpen Targets
0.47Moderate
intelligenceOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
attention deficit hyperactivity disorderOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.43Moderate
mathematical abilityOpen Targets
0.43Moderate
type 2 diabetes mellitusOpen Targets
0.42Moderate
schizophreniaOpen Targets
0.38Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
mental or behavioural disorderOpen Targets
0.33Weak
major depressive disorderOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.31Weak
health study participationOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.28Weak
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageUniProt
Pathogenic Variants120
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases|Seizure
β˜…β˜…β˜†β˜†2026β†’ Residue 15
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 27
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)Pathogenic
not provided|Autism spectrum disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_002397.5(MEF2C):c.638-1G>APathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β˜…β˜…β˜†β˜†2025
NM_002397.5(MEF2C):c.403-1G>TPathogenic
Autism spectrum disorder|not provided
β˜…β˜…β˜†β˜†2025
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)Pathogenic
not provided|MEF2C-related disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2025β†’ Residue 17
NM_002397.5(MEF2C):c.-8C>TPathogenic
not provided|Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2025
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 15
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 277
NM_002397.5(MEF2C):c.14del (p.Lys5fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 5
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)Pathogenic
not provided|Neurodevelopmental disorder|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2023β†’ Residue 16
NM_002397.5(MEF2C):c.638-2A>GPathogenic
not provided
β˜…β˜…β˜†β˜†2023
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases|MEF2C-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 189
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)Pathogenic
Autism spectrum disorder|Intellectual disability|5q14.3 microdeletion syndrome|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2023β†’ Residue 256
NM_002397.5(MEF2C):c.-26C>TPathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2022β†’ Residue 35
NM_002397.5(MEF2C):c.401_402+2delPathogenic
Inborn genetic diseases|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2022
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
β˜…β˜…β˜†β˜†2022β†’ Residue 38
NM_002397.5(MEF2C):c.638-2A>CPathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021
View on ClinVar β†—
Related Genes
NCOA2Protein interaction100%HDAC4Protein interaction97%HDAC9Protein interaction96%MAPK7Protein interaction96%EP300Protein interaction94%MYF5Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
27%
Ovary
15%
Lung
11%
Bone Marrow
4%
Liver
3%
Gene Interaction Network
Click a node to explore
MEF2CNCOA2HDAC4HDAC9MAPK7EP300MYF5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q06413
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.09 [0.04–0.21]
RankingsWhere MEF2C stands among ~20K protein-coding genes
  • #1,635of 20,598
    Most Researched240 Β· top 10%
  • #651of 5,498
    Most Pathogenic Variants120 Β· top quartile
  • #516of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedMEF2C
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
The transcription factor MEF2C restrains microglial overactivation by inhibiting kinase CDK2.
PMID: 40139186
Immunity Β· 2025
1.00
2
MEF2C silencing downregulates NF2 and E-cadherin and enhances Erastin-induced ferroptosis in meningioma.
PMID: 33984142
Neuro Oncol Β· 2021
0.90
3
A
PMID: 39803522
bioRxiv Β· 2024
0.80
4
MEF2C regulates NK cell effector functions through control of lipid metabolism.
PMID: 38589619
Nat Immunol Β· 2024
0.80
5
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
PMID: 34184825
Am J Med Genet A Β· 2021
0.72