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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MEF2B
myocyte enhancer factor 2B
Chromosome 19 · 19p13.11
NCBI Gene: 100271849Ensembl: ENSG00000213999.18HGNC: HGNC:6995UniProt: Q02080
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription regulator complexRNA polymerase II cis-regulatory region sequence-specific DNA bindingprotein bindingneurodegenerative diseasediffuse large B-cell lymphomaneurodegeneration, infantile-onset, with optic atrophy and brain abnormalitieslymphoma
✦AI Summary

MEF2B (myocyte enhancer factor 2B) is a transcriptional activator that binds to the MEF2 DNA element to regulate gene expression in multiple cell types. In B cells specifically, MEF2B promotes germinal center (GC) B cell differentiation and functions as a critical component of the BCL6 transcriptional complex, supporting GC-DLBCL (germinal center diffuse large B-cell lymphoma) cell growth 1. MEF2B cooperates with histone acetyltransferases CREBBP and EP300 in chr19 remodeling 2. The gene is frequently mutated in B-cell lymphomas; N-terminal mutations escape transcriptional repression, while C-terminal mutations enhance protein stability and transcriptional activity by impairing phosphorylation-dependent ubiquitin-mediated degradation and increasing SWI/SNF complex interaction 3. These mutations drive GC B-cell lymphomagenesis, particularly in follicular lymphoma and DLBCL 45. Clinically, MEF2B mutations are incorporated into prognostic models (m7-FLIPI) that improve risk stratification for follicular lymphoma patients receiving immunochemotherapy, with mutations associated with treatment failure 6. Additionally, MEF2B is a direct target of Epstein-Barr virus nuclear antigen 1 (EBNA1) and is essential for EBV-infected B-lymphocyte survival 7, while ZEB2-mediated MEF2B repression promotes age-associated B cell formation in autoimmunity 8.

Sources cited
1
MEF2B is a member of the BCL6 transcriptional complex and promotes GC-DLBCL cell growth; knockdown suppresses BCL6 and CD10 expression
PMID: 30446717
2
MEF2B mutations occur in 11.4% of DLBCL and 13.4% of FL cases; MEF2B cooperates with CREBBP and EP300 in histone acetylation
PMID: 21796119
3
MEF2B C-terminal mutations enhance transcriptional activity and protein stability; impair S324 phosphorylation and CUL3/KLHL12 interaction; drive lymphomagenesis with Bcl2
PMID: 39179580
4
MEF2B mutations are present in conventional t(14;18)+ follicular lymphoma but absent in t(14;18)- FL cases
PMID: 33211828
5
MEF2B mutations define a genetic subtype (GM) in follicular lymphoma enriched with GNA13 mutations
PMID: 39112453
6
MEF2B mutations are integrated into m7-FLIPI prognostic model for follicular lymphoma; mutations predict treatment failure with immunochemotherapy
PMID: 26256760
7
MEF2B is a direct EBNA1 target gene; essential for EBV-infected B-lymphocyte survival and proliferation
PMID: 26468528
8
ZEB2 binds MEF2B's intronic enhancer at +20-kb, repressing MEF2B-mediated germinal center B cell differentiation and promoting age-associated B cell formation
PMID: 38271512
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
diffuse large B-cell lymphomaOpen Targets
0.49Moderate
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesOpen Targets
0.48Moderate
lymphomaOpen Targets
0.38Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.31Weak
cervical carcinomaOpen Targets
0.28Weak
hypopituitarismOpen Targets
0.18Weak
B-cell non-Hodgkins lymphomaOpen Targets
0.18Weak
neoplasmOpen Targets
0.13Weak
non-small cell lung carcinomaOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
Mantle cell lymphomaOpen Targets
0.03Suggestive
dilated cardiomyopathyOpen Targets
0.03Suggestive
alcoholic liver diseaseOpen Targets
0.02Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.02Suggestive
pancreatic adenocarcinomaOpen Targets
0.02Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
marginal zone B-cell lymphomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NFATC1Protein interaction98%NFATC2Protein interaction98%NFATC3Protein interaction98%NFATC4Protein interaction98%HDAC9Protein interaction98%CABIN1Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Liver
94%
Lung
77%
Brain
54%
Bone Marrow
5%
Heart
0%
Gene Interaction Network
Click a node to explore
MEF2BNFATC1NFATC2NFATC3NFATC4HDAC9CABIN1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WC2 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.50 [0.33–0.78]
RankingsWhere MEF2B stands among ~20K protein-coding genes
  • #8,699of 20,598
    Most Researched51
  • #6,366of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedMEF2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The transcription factor ZEB2 drives the formation of age-associated B cells.
PMID: 38271512
Science · 2024
1.00
2
Follicular lymphoma t(14;18)-negative is genetically a heterogeneous disease.
PMID: 33211828
Blood Adv · 2020
0.90
3
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
PMID: 21796119
Nature · 2011
0.80
4
MEF2B C-terminal mutations enhance transcriptional activity and stability to drive B cell lymphomagenesis.
PMID: 39179580
Nat Commun · 2024
0.70
5
Identification of genetic subtypes in follicular lymphoma.
PMID: 39112453
Blood Cancer J · 2024
0.60