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MIRAGE
dysferlin
Summary
- Gene Symbol
-
- DYSF
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative promoter usage
- Alternative splicing
- Calcium
- Cell membrane
- Cytoplasmic vesicle
- Disease variant
- Limb-girdle muscular dystrophy
- Lipid-binding
- Metal-binding
- Phosphoprotein
- Reference proteome
- Repeat
- Signal-anchor
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| O75923 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| monocyte activation involved in immune response | ||
| macrophage activation involved in immune response | ||
| regulation of neurotransmitter secretion | ||
| negative regulation of phagocytosis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endosome | ||
| early endosome | ||
| late endosome | ||
| plasma membrane | ||
| endocytic vesicle |
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium ion binding | ||
| calcium ion binding | ||
| protein binding | ||
| phospholipid binding | ||
| calcium-dependent phospholipid binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Otoferlin
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| plasma membrane organization |
| InterPro |
|---|
| C2 domain superfamily |
| C2 domain |
| Ferlin family |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070199 | Miyoshi muscular dystrophy 1 | |
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:0111187 | distal myopathy with anterior tibial onset | |
| DOID:9884 | muscular dystrophy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 8291 | ZFIN:ZDB-GENE-070501-1 | ||
| 26509 | FB:FBgn0266757 | ||
| 26903 | ZFIN:ZDB-GENE-070501-1 | MOUSE49619 | |
| 90342 | FB:FBgn0266757 | ||
| 226101 | FB:FBgn0266757 | ||
| 312492 | RATNO31547 | ||
| 459315 | PANTR27876 | ||
| 483121 | CANLF05252 | ||
| 508157 | BOVIN02158 | ||
| 560924 | DANRE40767 |
