Gene
dysf
- ID
- ZDB-GENE-070501-1
- Name
- dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- Symbol
- dysf Nomenclature History
- Previous Names
-
- si:rp71-50c18.1
- wu:fb73b05
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Localizes to T-tubule. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy. Is expressed in brain; digestive system; eye; heart; and muscle. Orthologous to human DYSF (dysferlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2B | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 2 | 253601 |
| distal myopathy with anterior tibial onset | Alliance | Myopathy, distal, with anterior tibial onset | 606768 |
| Miyoshi muscular dystrophy 1 | Alliance | Miyoshi muscular dystrophy 1 | 254130 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| muscular dystrophy | AB + MO6-dysf | standard conditions | Ono et al., 2020 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000008 | C2 domain |
| Domain | IPR006614 | Peroxin/Ferlin domain |
| Domain | IPR012560 | Ferlin A-domain |
| Domain | IPR012561 | Ferlin B-domain |
| Domain | IPR012968 | FerIin domain |
| Domain | IPR032362 | Ferlin, C-terminal domain |
| Domain | IPR037720 | Ferlin, second C2 domain |
| Domain | IPR037722 | Ferlin, third C2 domain |
| Domain | IPR037723 | Ferlin, fourth C2 domain |
| Domain | IPR037724 | Ferlin, fifth C2 domain |
| Domain | IPR037725 | Ferlin, sixth C2 domain |
| Domain | IPR037726 | Ferlin, first C2 domain |
| Family | IPR037721 | Ferlin family |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | FerIin domain | Ferlin A-domain | Ferlin B-domain | Ferlin, C-terminal domain | Ferlin family | Ferlin, fifth C2 domain | Ferlin, first C2 domain | Ferlin, fourth C2 domain | Ferlin, second C2 domain | Ferlin, sixth C2 domain | Ferlin, third C2 domain | Peroxin/Ferlin domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QH31
|
2098 | ||||||||||||||
|
UniProtKB:A0A8M9PNZ9
|
2107 | ||||||||||||||
|
UniProtKB:E7F4H1
|
2097 | ||||||||||||||
|
UniProtKB:F1QIS3
|
2088 | ||||||||||||||
|
UniProtKB:A0A8M9Q7X3
|
2099 | ||||||||||||||
|
UniProtKB:A0A8M9QH25
|
2118 | ||||||||||||||
|
UniProtKB:F6IA09
|
2088 | ||||||||||||||
|
UniProtKB:A0A8M2BJL7
|
2116 | ||||||||||||||
|
UniProtKB:A0A8M9QC21
|
2117 | ||||||||||||||
|
UniProtKB:A0A8M9Q1P0
|
2104 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-dysf | monoclonal | Mouse |
|
Vector Laboratories
|
2 |
Plasmids