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MIRAGE
methyl-CpG binding protein 2
Summary
- Gene Symbol
-
- MECP2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Autism
- Chromosomal rearrangement
- DNA-binding
- Disease variant
- Intellectual disability
- Methylation
- Nucleus
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Repressor
- Transcription regulation
- Proteins
| UniProt | Protein Name |
|---|---|
| D3YJ43 |
|
| Q59FJ6 |
|
| P51608 |
|
| A0A140VKC4 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of transcription by RNA polymerase II | ||
| behavioral fear response | ||
| response to hypoxia | ||
| startle response | ||
| nervous system process involved in regulation of systemic arterial blood pressure |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
multicellular organismal process [inference]
developmental process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological 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]
negative regulation of cellular metabolic process [inference]
positive regulation of cellular 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 localization [inference]
regulation of transport [inference]
regulation of cellular localization [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 transport [inference]
negative regulation of biological process [inference]
negative regulation of metabolic process [inference]
negative regulation of cellular process [inference]
negative regulation of multicellular organismal process [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
negative regulation of cellular metabolic process [inference]
positive regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of microtubule-based process [inference]
regulation of cell differentiation [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of cellular component organization [inference]
regulation of cellular localization [inference]
regulation of multicellular organismal process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleoplasm | ||
| nucleoplasm | ||
| centrosome | ||
| cytosol | ||
| protein-containing complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| four-way junction DNA binding | ||
| nucleic acid binding | ||
| DNA binding | ||
| chromatin binding | ||
| transcription corepressor activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Methyl-CpG-binding protein 2
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| chromatin binding |
| double-stranded methylated DNA binding |
| methyl-CpG binding |
| InterPro |
|---|
| DNA-binding domain superfamily |
| Methyl-CpG DNA binding |
| Methyl-CpG binding protein MeCP2/MBD4 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060799 | syndromic X-linked intellectual disability Lubs type | |
| DOID:0060827 | X-linked intellectual disability-psychosis-macroorchidism syndrome | |
| DOID:0111932 | severe congenital encephalopathy due to MECP2 mutation | |
| DOID:1206 | Rett syndrome | |
| DOID:12849 | autistic disorder | |
| DOID:77 | gastrointestinal system disease |
