MEF2D (Myocyte Enhancer Factor 2D) Gene
Transcriptional regulator involved in development, neuronal function, and cancer
Gene Information Card
| Symbol | MEF2D |
|---|---|
| Full Name | Myocyte Enhancer Factor 2D |
| Gene Type | protein-coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 4209 ncbi.nlm.nih.gov/gene/4209 |
| Ensembl ID | ENSG00000081181 |
| UniProt ID | Q14814 |
| OMIM ID | 600663 |
| HGNC ID | 6997 |
| Aliases | MEF2D, MEF2D1, bA19P2.1 |
Description
MEF2D encodes a member of the myocyte enhancer factor 2 (MEF2) family of transcription factors. These proteins bind to the MEF2 consensus sequence and regulate gene expression in muscle, neuronal, and immune cells. MEF2D is involved in development, synaptic plasticity, and cell survival. Chromosomal rearrangements involving MEF2D are associated with acute lymphoblastic leukemia (ALL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia (ALL) | Chromosomal translocations (e.g., t(1;19)(q23;p13)) fuse MEF2D with other genes (e.g., BCL9, DAZAP1, SS18), creating oncogenic fusion proteins that alter transcriptional programs. | COSMIC; PMID: 27392132 |
| Neurodevelopmental disorders | MEF2D haploinsufficiency or mutations may contribute to intellectual disability and autism spectrum disorder, though evidence is emerging. | ClinVar; PMID: 28135719 |
| Cardiomyopathy | MEF2D regulates cardiac gene expression; altered activity may contribute to hypertrophic cardiomyopathy. | PMID: 19075002 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in cerebral cortex, cerebellum, and hippocampus |
| Heart | Moderate | Expressed in cardiac muscle |
| Skeletal Muscle | Moderate | Expressed in skeletal muscle |
| Lung | Low | Low expression |
| Liver | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | High | Chronic myeloid leukemia cell line; high MEF2D expression |
| HeLa (cervical cancer) | Moderate | Cervical adenocarcinoma cell line |
| A549 (lung cancer) | Low | Lung carcinoma cell line |
| MCF7 (breast cancer) | Moderate | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| MEF2D-BCL9 fusion | Chromosomal translocation | Rare | Oncogenic fusion; activates MEF2D target genes, promoting leukemogenesis |
| MEF2D-DAZAP1 fusion | Chromosomal translocation | Rare | Oncogenic fusion; disrupts normal transcriptional regulation |
| Missense variants | Point mutation | Unknown | May affect DNA binding or transcriptional activity; clinical significance varies |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., truncating) may impair transcriptional activation, potentially contributing to neurodevelopmental phenotypes.
Gain of Function (GOF)
Fusion proteins (e.g., MEF2D-BCL9) often exhibit gain-of-function activity, leading to aberrant activation of target genes.
Dominant Negative (DN)
Some MEF2D mutants may act in a dominant-negative manner, interfering with wild-type MEF2D function.
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 | • nucleus |
| • regulation of transcription by RNA polymerase II | • positive regulation of transcription by RNA polymerase II |
| • negative regulation of transcription by RNA polymerase II | • neuron differentiation |
| • muscle cell differentiation |
Pathways
• MEF2D signaling pathway
• MAPK signaling pathway (MEF2D is a downstream target)
• Calcium signaling pathway (regulates MEF2D activity via calcineurin)
Protein Summary
MEF2D is a 514-amino acid transcription factor with a MADS-box domain and MEF2 domain, which mediate DNA binding and dimerization. It regulates expression of genes involved in muscle differentiation, neuronal survival, and immune responses. Post-translational modifications (e.g., phosphorylation, sumoylation) modulate its activity. Aberrant MEF2D fusions are oncogenic in leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEF2D Knockout HEK293 Cell Line | EDJ-KQ1083 | Human | 4209 | Details Get a Quote |
| MEF2D Knockout A-549 Cell Line | EDJ-KQ20227 | Human | 4209 | Details Get a Quote |
| MEF2D Knockout HCT 116 Cell Line | EDJ-KQ20228 | Human | 4209 | Details Get a Quote |
| MEF2D Knockout HeLa Cell Line | EDJ-KQ20229 | Human | 4209 | Details Get a Quote |
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