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FLASH GENE
Symbol BSND contributors: mct/npt - updated : 12-01-2007
HGNC name Bartter syndrome, infantile, with sensorineural deafness (Barttin)
HGNC id 16512
DNA
TYPE functioning gene
STRUCTURE 9.85 kb     4 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1396 35 320 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/EquilibriumearinnercochleaCorti 
urinarykidneynephronHenle's loop  
 kidneyHenle's loopascending thick limb  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text cochlea (marginal cells of the stria vascularis)
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • two putative transmembrane alpha helices
  • two hydrophobic stretches spanning the membrane
  • a putative Py segment
  • a cytoplasmic C-terminal domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bsnd
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • localized to basolateral membrane of renal tubule and of potassium-secreting epithelia of the inner ear
  • basic FUNCTION
  • maybe functioning as a regulator for ion-transport proteins
  • modulating trafficking and function of ClC-K channels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component forms heteromers :
  • with CLCNKA in the thin ascending limb of Henle
  • with CLCNKB in the thick ascending limb and more distal segments
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter
  • regulated by SGK1 and SGK3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSND4 , DFNB73
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS