Gene
bfsp2
- ID
- ZDB-GENE-041212-58
- Name
- beaded filament structural protein 2, phakinin
- Symbol
- bfsp2 Nomenclature History
- Previous Names
-
- zgc:103750 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament organization. Predicted to be active in intermediate filament. Is expressed in lens; male organism; and solid lens vesicle. Human ortholog(s) of this gene implicated in cataract and cataract 12 multiple types. Orthologous to human BFSP2 (beaded filament structural protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103750 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cataract 12 multiple types | Alliance | Cataract 12, multiple types | 611597 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Intermediate filament, rod domain | Keratin, type I |
|---|---|---|---|
|
UniProtKB:A0A286YA92
|
441 | ||
|
UniProtKB:A0A8M2BAL8
|
440 | ||
|
UniProtKB:Q5PR28
|
438 |
Interactions and Pathways
No data available
Plasmids
No data available