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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
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