MEF2C Gene Summary [Human]
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 cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | MEF2C |
| Official Name | myocyte enhancer factor 2C [Source:HGNC Symbol;Acc:HGNC:6996] |
| Ensembl ID | ENSG00000081189 |
| Bio databases IDs | |
| Aliases | myocyte enhancer factor 2C |
| Synonyms | 5430401D19RIK, 9930028G15RIK, C5DELq14.3, DEL5q14.3, LOC685671, Mef2, myocyte enhancer factor 2C, Myocyte specific enhancer factor 2, NEDHSIL, RGD1563119 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MEF2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Myocyte enhancer factor domain
- transcription regulator
- SRF-type transcription factor (DNA-binding and dimerization domain)
- transcription activation domain
- transcription factor binding
- chromatin binding
- AT DNA binding
- MADS
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- helix-loop-helix domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- MEF2 binding domain
- activation domain
- acetylation site
- DNA binding domain
- nucleic acid binding
- Holliday junction regulator protein family C-terminal repeat
- histone deacetylase binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- VP16 activation domain
- double-stranded DNA binding
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the MEF2C gene in human plays a role, providing insight into its function and relevance in health or disease.
- Apelin Endothelial Signaling Pathway
- B Cell Receptor Signaling
- Calcium Signaling
- Cardiac Hypertrophy Signaling
- Cellular Effects of Sildenafil (Viagra)
- Cholecystokinin/Gastrin-mediated Signaling
- Corticotropin Releasing Hormone Signaling
- ERK5 Signaling
- Factors Promoting Cardiogenesis in Vertebrates
- G-Protein Coupled Receptor Signaling
- Gα12/13 Signaling
- Osteoarthritis Pathway
- p38 MAPK Signaling
- PPARα/RXRα Activation
- Role of NFAT in Cardiac Hypertrophy
- Role of NFAT in Regulation of the Immune Response
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- schizophrenia
- diabetic nephropathy
- acute myeloid leukemia
- mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
- pervasive developmental disorder
- hereditary disorder
- breast ductal carcinoma in situ
- ductal in situ breast cancer
- autosomal dominant epilepsy
role in cell
- expression in
- cell viability
- activation in
- hypertrophy
- apoptosis
- proliferation
- growth
- quantity
- migration
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- sarcomere
- cytosol
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MEF2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cardiac muscle cell proliferation
- renal tubule morphogenesis
- ventricular cardiac muscle cell differentiation
- cardiac ventricle formation
- learning or memory
- regulation of germinal center formation
- positive regulation of skeletal muscle tissue development
- positive regulation of transcription, DNA-dependent
- cellular response to fluid shear stress
- glomerulus morphogenesis
- cellular response to parathyroid hormone stimulus
- humoral immune response
- regulation of synaptic plasticity
- apoptotic process
- platelet formation
- heart looping
- positive regulation of macrophage apoptotic process
- positive regulation of alkaline phosphatase activity
- regulation of synaptic transmission, glutamatergic
- regulation of synapse assembly
- positive regulation of bone mineralization
- regulation of excitatory postsynaptic membrane potential
- neural crest cell differentiation
- neuron differentiation
- regulation of dendritic spine development
- sinoatrial valve morphogenesis
- B cell proliferation
- regulation of megakaryocyte differentiation
- positive regulation of cardiac muscle cell differentiation
- cellular response to transforming growth factor beta stimulus
- primary heart field specification
- negative regulation of gene expression
- secondary heart field specification
- positive regulation of gene expression
- positive regulation of skeletal muscle cell differentiation
- myotube differentiation
- positive regulation of B cell proliferation
- endochondral ossification
- epithelial cell proliferation involved in renal tubule morphogenesis
- cellular response to trichostatin A
- regulation of synaptic activity
- chondrocyte differentiation
- nervous system development
- outflow tract morphogenesis
- positive regulation of neuron differentiation
- positive regulation of myoblast differentiation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of osteoblast differentiation
- regulation of neuron apoptotic process
- negative regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- MAPK cascade
- heart development
- smooth muscle cell differentiation
- neuron migration
- response to ischemia
- cellular response to calcium ion
- blood vessel development
- osteoblast differentiation
- B cell receptor signaling pathway
- regulation of neurotransmitter secretion
- negative regulation of blood vessel endothelial cell migration
- regulation of transcription, DNA-dependent
- muscle cell fate determination
- cell morphogenesis involved in neuron differentiation
- neuron development
- positive regulation of MAPK cascade
- nephron tubule epithelial cell differentiation
- B cell homeostasis
- muscle organ development
- germinal center formation
- melanocyte differentiation
- blood vessel remodeling
- positive regulation of behavioral fear response
- cellular response to lipopolysaccharide
- skeletal muscle tissue development
- cell differentiation
- cellular response to xenobiotic stimulus
- negative regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- sarcoplasm
- cytoplasm
- nuclear speck
- intracellular membrane-bounded organelle
- cytosol
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- histone deacetylase binding
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- AT DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity