dysferlin
| UniProt | Protein Name |
|---|---|
| O75923 |
|
| 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 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 |
| Gene Ontology |
|---|
| T-tubule organization |
| plasma membrane repair |
| InterPro |
|---|
| C2 domain superfamily |
| C2 domain |
| Ferlin family |
| 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 |
| 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 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025