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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

Gene Tree: Bsnd

Human
homologs
Human Homolog BSND, barttin CLCNK-type chloride channel accessory beta subunit
NCBI Gene ID 7809
neXtProt AC  NX_Q8WZ55
Human Synonyms  BART, DFNB73
Human Chr (Location)  1p32.1; chr1:54998944-55008792 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BSND
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
 
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 Using Mouse Bsnd (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Bsnd interacts with 226 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: (8 records)
Data Summary: Results (89)    Tissues (52)    Images (16)
Theiler Stages: 23, 26, 28
Assay TypeResults
RNA in situ 89
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000008195 (Evidence)
Ensembl Gene ModelENSMUSG00000025418 (Evidence)
Entrez Gene140475 (Evidence)
UniGene135448
DFCITC1586490
DoTSDT.101359696, DT.99850386
NIA Mouse Gene IndexU025327
Consensus CDS ProjectCCDS18419.1
International Mouse Knockout Project StatusBsnd
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:198739 Rossier BC, et al., Genetic dissection of sodium and potassium transport along the aldosterone-sensitive distal nephron: Importance in the control of blood pressure and hypertension. FEBS Lett. 2013 Jun 27;587(13):1929-41
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
08/19/2014
MGI 5.19
The Jackson Laboratory