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desmin
Summary
- Gene Symbol
-
- DES
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- ADP-ribosylation
- Cardiomyopathy
- Cell membrane
- Coiled coil
- Cytoplasm
- Desmin-related myopathy
- Disease variant
- Intermediate filament
- Limb-girdle muscular dystrophy
- Methylation
- Muscle protein
- Nucleus
- Phosphoprotein
- Reference proteome
- Ubl conjugation
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| muscle contraction | ||
| nuclear envelope organization | ||
| cytoskeleton organization | ||
| regulation of heart contraction | ||
| intermediate filament organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| nucleus | ||
| nuclear envelope | ||
| cytoplasm | ||
| cytosol | ||
| intermediate filament |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| structural constituent of cytoskeleton | ||
| protein binding | ||
| cytoskeletal protein binding | ||
| identical protein binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Keratin
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| intermediate filament organization |
| InterPro |
|---|
| Intermediate filament, rod domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0110431 | dilated cardiomyopathy 1I | |
| DOID:0111551 | neurogenic scapuloperoneal syndrome Kaeser type | |
| DOID:12930 | dilated cardiomyopathy | |
| DOID:397 | restrictive cardiomyopathy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1674 | Xenbase:XB-GENE-494931 | ||
| 2670 | WB:WBGene00002058 | ||
| 3855 | WB:WBGene00002058 | ||
| 3856 | WB:WBGene00002058 | ||
| 3872 | WB:WBGene00002058 | ||
| 5630 | WB:WBGene00002058 | ||
| 7431 | WB:WBGene00002058 | ||
| 8687 | WB:WBGene00002058 | ||
| 9118 | WB:WBGene00002058 | ||
| 13346 | Xenbase:XB-GENE-494931 | MOUSE30859 |
