Version 5.4
Homo sapiens Gene: BSND
Summary
InnateDB Gene IDBG-99070.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BSND
Gene Name Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Synonyms BART; DFNB73
Species Homo sapiens
Ensembl Gene ENSG00000162399
Encoded Proteins
IDBP-99072
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:54998933-55010883
Strand Forward strand
Band p32.3
Transcripts
ENST00000371265 ENSP00000360312
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005254 chloride channel activity
GO:0005515 protein binding
GO:0017081 chloride channel regulator activity
Biological Process
GO:0006821 chloride transport
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016323 basolateral plasma membrane
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025418
View Gene Order
ENSBTAG00000013241
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q8WZ55
TrEMBL Q5VU50
UniProt Splice Variant
Entrez Gene 7809
UniGene Hs.151291
RefSeq NM_057176 XM_006710883
HUGO HGNC:16512
OMIM 606412
CCDS CCDS602
HPRD 05914
IMGT
EMBL AY034632 BC069510 BC103898 BC103899 BC103900 CH471059
GenPept AAI03899 AAI03900 AAI03901 AAK57750 EAX06661
RNA Seq Atlas 7809

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca