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MIRAGE
SMAD family member 6
Summary
- Gene Symbol
-
- SMAD6
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Craniosynostosis
- Disease variant
- Isopeptide bond
- Metal-binding
- Methylation
- Nucleus
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Transcription regulation
- Ubl conjugation
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| O43541 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| ureteric bud development | ||
| outflow tract septum morphogenesis | ||
| aortic valve morphogenesis | ||
| mitral valve morphogenesis | ||
| pulmonary valve morphogenesis |
GO Hierarchy
biological process
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of signaling [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| transcription cis-regulatory region binding | ||
| chromatin binding | ||
| protein binding | ||
| ubiquitin protein ligase binding | ||
| type I transforming growth factor beta receptor binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- mothers against decapentaplegic
- Functional Category
-
- K: Transcription
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Dwarfin |
| MAD homology 1, Dwarfin-type |
| MAD homology, MH1 |
| SMAD MH1 domain superfamily |
| SMAD domain, Dwarfin-type |
| SMAD-like domain superfamily |
| SMAD/FHA domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060912 | craniosynostosis 7 | |
| DOID:0080334 | aortic valve disease 2 | |
| DOID:9827 | radioulnar synostosis |
