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MIRAGE
myocyte enhancer factor 2C
Summary
- Gene Symbol
-
- MEF2C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Activator
- Alternative splicing
- Apoptosis
- Cytoplasm
- DNA-binding
- Developmental protein
- Differentiation
- Disease variant
- Epilepsy
- Intellectual disability
- Isopeptide bond
- Neurogenesis
- Nucleus
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Transcription regulation
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0D9SGI5 |
|
| D8L7E9 |
|
| Q06413 |
|
| A0A0D9SFD0 |
|
| A0A0R4J2G5 |
|
| A0A9L9PYA3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of transcription by RNA polymerase II | ||
| MAPK cascade | ||
| MAPK cascade | ||
| blood vessel development | ||
| osteoblast differentiation |
GO Hierarchy
- regulation of dendritic spine development
biological process
cellular process [inference]
developmental process [inference]
response to stimulus [inference]
response to endogenous stimulus [inference]
response to chemical [inference]
cellular response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of immune system process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
negative regulation of metabolic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of growth [inference]
regulation of locomotion [inference]
positive regulation of biological process [inference]
positive regulation of metabolic process [inference]
positive regulation of cellular process [inference]
positive regulation of developmental process [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of developmental process [inference]
regulation of cell differentiation [inference]
positive regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of cell population proliferation [inference]
regulation of programmed cell death [inference]
regulation of cell differentiation [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of cell activation [inference]
regulation of multicellular organismal process [inference]
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- myocyte-specific enhancer factor 2A
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| protein dimerization activity |
| sequence-specific DNA binding |
| InterPro |
|---|
| Holliday junction regulator protein family C-terminal |
| MADS MEF2-like |
| Transcription factor, MADS-box superfamily |
| Transcription factor, MADS-box |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070050 | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
