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 act upstream of or within intermediate filament cytoskeleton organization. Predicted to be active in intermediate filament. Is expressed in lens 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