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Bsnd
Gene Detail
Symbol

Name
ID
Bsnd
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
MGI:2153465
Feature Type
protein coding gene
Genetic Map
Chromosome 4
49.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:106483456-106492283 bp, - strand
From VEGA annotation of GRCm38

  8828 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14291  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

HCOP human homology predictions: BSND
Gene Tree: Bsnd

Human
homologs
BSND, barttin CLCNK-type chloride channel accessory beta subunit
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7809
neXtProt AC: NX_Q8WZ55

Human Synonyms: BART, DFNB73

Human Chr (Location): 1p32.1; chr1:54998944-55008792 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BSND

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Genomic Mutations involving Bsnd (1)
 
Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration.
 
Human Diseases Modeled in Mice Using Bsnd (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Bsnd interacts with 225 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cellular chloride ion homeostasis, cellular ion homeostasis, ...
Component basolateral plasma membrane, cell, ...
Function chloride channel activity, chloride channel regulator activity, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (89)    Tissues (52)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 89
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bsnd    NEW 
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000008195 (Evidence)
Ensembl Gene Model ENSMUSG00000025418 (Evidence)
Entrez Gene 140475 (Evidence)
UniGene 135448
DFCI TC1586490
DoTS DT.101359696, DT.99850386
NIA Mouse Gene Index U025327
Consensus CDS Project CCDS18419.1
International Mouse Phenotyping Consortium Status Bsnd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008195 VEGA Gene Model | MGI Sequence Detail 8828 C57BL/6J ±  kb
transcript OTTMUST00000018616 VEGA | MGI Sequence Detail 2756 Not Applicable 
polypeptide OTTMUSP00000008552 VEGA | MGI Sequence Detail 307 Not Applicable 

For the selected sequences
All sequences(19) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(145 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000004831 barttin
References
(Earliest) J:72408 Birkenhager R, et al., Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4
(Latest) J:214677 Bohnenpoll T, et al., Canonical Wnt signaling regulates the proliferative expansion and differentiation of fibrocytes in the murine inner ear. Dev Biol. 2014 Jul 1;391(1):54-65
All references(36)
Disease annotation references (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory