Gene
bsnd
- ID
- ZDB-GENE-070705-548
- Name
- barttin CLCNK type accessory subunit beta
- Symbol
- bsnd Nomenclature History
- Previous Names
-
- im:7136367
- si:dkeyp-51f12.4
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Enables chloride transmembrane transporter activity. Predicted to be involved in chloride transport. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane. Is expressed in pronephric duct. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7136367 (2 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 |
|---|---|---|---|
| Bartter disease type 4a | Alliance | Bartter syndrome, type 4a | 602522 |
| Bartter disease type 4a | Alliance | Sensorineural deafness with mild renal dysfunction | 602522 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029181 | Barttin |
Domain Details Per Protein
| Protein | Length | Barttin |
|---|---|---|
|
UniProtKB:E7F4W6
|
175 |
Interactions and Pathways
No data available
Plasmids
No data available