Summary of MEF2C
The gene codes for a protein, myocyte enhancer factor 2C. Mutations and deletions may cause severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation [R].
The Function of MEF2C
Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.
Protein names
Recommended name:
Myocyte-specific enhancer factor 2C- RS10514299 (MEF2C) ??
- RS11951031 (MEF2C) ??
- RS17560407 (MEF2C) ??
- RS181900 (MEF2C) ??
- RS4521516 (MEF2C) ??
- RS700585 (MEF2C) ??
- RS770189 (MEF2C) ??
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Top Gene-Substance Interactions
MEF2C Interacts with These Diseases
| Disease | Score |
Substances That Increase MEF2C
| Substances | Interaction | Organism | Category |
Substances That Decrease MEF2C
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformationsFrom UniProt: Mental retardation, autosomal dominant 20 (MRD20): A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures. [MIM:613443]
From NCBI Gene: This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] From UniProt: Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in brain and skeletal muscle.
Gene Pathways:
Developmental stage:
Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.
Molecular Function:
- Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
- Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
- Rna Polymerase Ii Distal Enhancer Sequence-Specific Dna Binding
- Rna Polymerase Ii Transcription Factor Activity, Sequence-Specific Dna Binding
- Transcription Factor Activity, Rna Polymerase Ii Core Promoter Sequence-Specific
- Core Promoter Sequence-Specific Dna Binding
- Transcriptional Activator Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
- Transcriptional Activator Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding
- Dna Binding
- At Dna Binding
- Chromatin Binding
- Transcription Factor Activity, Sequence-Specific Dna Binding
- Activating Transcription Factor Binding
- Mirna Binding
- Transcription Regulatory Region Dna Binding
- Protein Heterodimerization Activity
Biological Processes:
- Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
- Mapk Cascade
- Blood Vessel Development
- Osteoblast Differentiation
- Neuron Migration
- B Cell Homeostasis
- Heart Looping
- Endochondral Ossification
- Blood Vessel Remodeling
- Chondrocyte Differentiation
- Germinal Center Formation
- Regulation Of Germinal Center Formation
- Response To Ischemia
- Primary Heart Field Specification
- Secondary Heart Field Specification
- Outflow Tract Morphogenesis
- Sinoatrial Valve Morphogenesis
- Cardiac Ventricle Formation
- Regulation Of Transcription, Dna-Templated
- Apoptotic Process
- Humoral Immune Response
- Nervous System Development
- Heart Development
- Muscle Organ Development
- Skeletal Muscle Tissue Development
- Muscle Cell Fate Determination
- Learning Or Memory
- Response To Virus
- Positive Regulation Of Gene Expression
- Negative Regulation Of Gene Expression
- Positive Regulation Of Alkaline Phosphatase Activity
- Neural Crest Cell Differentiation
- Cardiac Muscle Hypertrophy In Response To Stress
- Myotube Differentiation
- Dentate Gyrus Development
- Neuron Differentiation
- Platelet Formation
- Monocyte Differentiation
- Negative Regulation Of Ossification
- Melanocyte Differentiation
- Positive Regulation Of Bone Mineralization
- Positive Regulation Of B Cell Proliferation
- Response To Vitamin E
- Skeletal Muscle Cell Differentiation
- Cellular Response To Trichostatin A
- B Cell Proliferation
- Positive Regulation Of Map Kinase Activity
- Regulation Of Neuron Apoptotic Process
- Negative Regulation Of Neuron Apoptotic Process
- Regulation Of Megakaryocyte Differentiation
- Positive Regulation Of Myoblast Differentiation
- Positive Regulation Of Neuron Differentiation
- Positive Regulation Of Osteoblast Differentiation
- Positive Regulation Of Transcription, Dna-Templated
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
- Regulation Of Neurotransmitter Secretion
- Regulation Of Synaptic Plasticity
- Positive Regulation Of Skeletal Muscle Tissue Development
- Neuron Development
- Cell Morphogenesis Involved In Neuron Differentiation
- Embryonic Viscerocranium Morphogenesis
- Negative Regulation Of Epithelial Cell Proliferation
- B Cell Receptor Signaling Pathway
- Smooth Muscle Cell Differentiation
- Positive Regulation Of Muscle Cell Differentiation
- Regulation Of Synapse Assembly
- Regulation Of Synaptic Transmission, Glutamatergic
- Ventricular Cardiac Muscle Cell Differentiation
- Palate Development
- Regulation Of Synaptic Activity
- Positive Regulation Of Cardiac Muscle Cell Proliferation
- Excitatory Postsynaptic Potential
- Transdifferentiation
- Regulation Of Sarcomere Organization
- Cartilage Morphogenesis
- Regulation Of Dendritic Spine Development
- Renal Tubule Morphogenesis
- Cellular Response To Lipopolysaccharide
- Cellular Response To Calcium Ion
- Cellular Response To Retinoic Acid
- Cellular Response To Glucose Stimulus
- Cellular Response To Parathyroid Hormone Stimulus
- Cellular Response To Fluid Shear Stress
- Cellular Response To Transforming Growth Factor Beta Stimulus
- Positive Regulation Of Cell Proliferation In Bone Marrow
- Glomerulus Morphogenesis
- Nephron Tubule Epithelial Cell Differentiation
- Positive Regulation Of Protein Homodimerization Activity
- Positive Regulation Of Macrophage Apoptotic Process
- Regulation Of N-Methyl-D-Aspartate Selective Glutamate Receptor Activity
- Regulation Of Alpha-Amino-3-Hydroxy-5-Methyl-4-Isoxazole Propionate Selective Glutamate Receptor Activity
- Positive Regulation Of Cardiac Muscle Cell Differentiation
- Positive Regulation Of Behavioral Fear Response
- Epithelial Cell Proliferation Involved In Renal Tubule Morphogenesis
- Positive Regulation Of Skeletal Muscle Cell Differentiation