MEF2A Gene Summary [Human]
The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | MEF2A |
| Official Name | myocyte enhancer factor 2A [Source:HGNC Symbol;Acc:HGNC:6993] |
| Ensembl ID | ENSG00000068305 |
| Bio databases IDs | |
| Aliases | myocyte enhancer factor 2A |
| Synonyms | A430079H05Rik, ADCAD1, mef2, M-S EF2A, myocyte enhancer factor 2A, RSRFC4, RSRFC9 |
| 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 MEF2A 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- MEF2 binding domain
- SMAD binding
- activation domain
- transcription regulator
- protein kinase binding
- SRF-type transcription factor (DNA-binding and dimerization domain)
- nucleic acid binding
- Holliday junction regulator protein family C-terminal repeat
- transcription activation domain
- transcription factor binding
- histone deacetylase binding
- cdk phosphorylation site
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- MADS
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- transcription factor activity
- protein heterodimerization
- histone acetyltransferase binding
Pathways
Biological processes and signaling networks where the MEF2A gene in human plays a role, providing insight into its function and relevance in health or disease.
- Apelin Endothelial Signaling Pathway
- Calcium Signaling
- Cardiac Hypertrophy Signaling
- Cellular Effects of Sildenafil (Viagra)
- Cholecystokinin/Gastrin-mediated Signaling
- Corticotropin Releasing Hormone Signaling
- ERK5 Signaling
- G-Protein Coupled Receptor Signaling
- Gα12/13 Signaling
- p38 MAPK Signaling
- Role of NFAT in Cardiac Hypertrophy
- Role of NFAT in Regulation of the Immune Response
- Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- metastasis
- autosomal dominant coronary artery disease type 1
- renal cell carcinoma
- renal cell cancer
- mesial temporal lobe epilepsy
- endometriosis
- septic shock
role in cell
- proliferation
- migration
- expression in
- apoptosis
- cell viability
- phosphorylation in
- gefitinib resistance
- morphogenesis
- differentiation
- loss
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
- cytosol
- MAD bodies
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MEF2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription, DNA-dependent
- positive regulation of glucose import
- positive regulation of transcription from RNA polymerase II promoter
- cardiac conduction
- mitochondrial genome maintenance
- dendrite morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- muscle organ development
- heart development
- MAPK cascade
- cellular response to calcium ion
- ERK5 cascade
- positive regulation of gene expression
- mitochondrion distribution
- apoptotic process
- cell differentiation
- positive regulation of cardiac muscle hypertrophy
- ventricular cardiac myofibril development
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- histone acetyltransferase binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- sequence-specific DNA binding transcription factor activity
- protein binding
- SMAD binding
- protein heterodimerization activity