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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa36969 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
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 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029181 | Barttin |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Barttin |
|---|---|---|---|
| UniProtKB:E7F4W6 | InterPro | 175 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-51F12 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7136367 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001305623 (1) | 889 nt | ||
| Genomic | GenBank:BX323071 (1) | 208118 nt | ||
| Polypeptide | UniProtKB:E7F4W6 (1) | 175 aa |
- Pérez-Rius, C., Castellanos, A., Gaitán-Peñas, H., Navarro, A., Artuch, R., Barrallo-Gimeno, A., Estévez, R. (2019) Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption. The Journal of physiology. 597(15):3969-3983
- Sugano, Y., Cianciolo Cosentino, C., Loffing-Cueni, D., Neuhauss, S.C.F., Loffing, J. (2017) Comparative transcriptomic analysis identifies evolutionarily conserved gene products in the vertebrate renal distal convoluted tubule. Pflugers Archiv : European journal of physiology. 469(7-8):859-867
- Abbas, L., Hajihashemi, S., Stead, L.F., Cooper, G.J., Ware, T.L., Munsey, T.S., Whitfield, T.T., and White, S.J. (2011) Functional and developmental expression of a zebrafish Kir1.1 (ROMK) potassium channel homologue Kcnj1. The Journal of physiology. 589(Pt 6):1489-503
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