BSND Gene Summary [Human]
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BSND |
| Official Name | barttin CLCNK type accessory subunit beta [Source:HGNC Symbol;Acc:HGNC:16512] |
| Ensembl ID | ENSG00000162399 |
| Bio databases IDs | |
| Aliases | barttin CLCNK type accessory subunit beta |
| Synonyms | BART, BARTTIN, barttin CLCNK type accessory beta subunit, barttin CLCNK type accessory subunit beta, barttin CLCNK type accessory subunit β, barttin CLCNK type accessory β subunit, DFNB73 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BSND often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bartter syndrome, infantile, with sensorineural deafness (Barttin)
- chloride channel
- protein binding
- chloride channel regulator
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- chronic kidney disease
- Bartter syndrome type 4A
- Bartter syndrome
- Bartter syndrome type 4
- Bartter syndrome with sensorineural deafness
- allergic rhinitis
- angina pectoris
- plantar wart
- autosomal recessive deafness
regulates
- chloride
role in cell
- 5-fluorouracil resistance
- ion homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BSND gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chloride transport
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- macromolecular complex
- basolateral plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- chloride channel regulator activity
- protein binding
- chloride channel activity