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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| skeletal muscle organ development | ||
| regulation of heart contraction | ||
| muscle contraction | ||
| intermediate filament organization | ||
| cytoskeleton organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell tip | ||
| intermediate filament cytoskeleton | ||
| sarcolemma | ||
| neuromuscular junction | ||
| cardiac myofibril |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| identical protein binding | ||
| structural constituent of cytoskeleton | ||
| cytoskeletal 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 protein, conserved site |
| Intermediate filament, rod domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy | |
| DOID:0050700 | 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 | |
| DOID:988 | mitral valve prolapse |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 13346 | MGI:94885 | MOUSE30859 | ||
| 30148 | ZFIN:ZDB-GENE-980526-221 | |||
| 64362 | RGD:620686 | RATNO42942 | ||
| 180430 | WB:WBGene00002058 | |||
| 280765 | BOVIN24799 | |||
| 379869 | Xenbase:XB-GENE-6254678 | |||
| 394739 | Xenbase:XB-GENE-494931 | |||
| 396725 | PIGXX10048 | |||
| 445691 | CIOIN10748 | |||
| 446868 | Xenbase:XB-GENE-494935 |
