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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
Corresponding disease
BSND4 Bartter syndrome type 4
DFNB73 neurosensory deafness 7 3
Location 1p32.3      Physical location : 55.464.616 - 55.474.464
Synonym name barttin
Synonym symbol(s) BART, MGC119283, MGC119284, MGC119285
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
Physical map
MAGOH 1p34-p33 mago-nashi homolog, proliferation-associated (Drosophila) LRP8 1p34 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor FLJ40434 1p32.3 hypothetical protein FLJ40434 DMRTB1 1p33 DMRT-like family B with proline-rich C-terminal, 1 FLJ36155 1p32.3 likely ortholog of mouse Gli-similar 1 Kruppel-like zinc finger (Glis1) FLJ10407 1p32.3 hypothetical protein FLJ10407 DJ167A19.1 1p33-p32.1 hypothetical protein DJ167A19.1 DIO1 1p32-p33 deiodinase, iodothyronine, type I LOC51668 1p32.1-p33 HSPCO34 protein MGC8974 1p33-p32.1 hypothetical protein MGC8974 LOC388632 1 similar to heterogeneous nuclear ribonucleoprotein A3 LOC388633 1 similar to Low-density lipoprotein receptor-related protein 2 precursor (Megalin) (Glycoprotein 330) (gp330) C1orf8 1p36-p31 chromosome 1 open reading frame 8 FLJ32112 1p32.3 hypothetical protein FLJ32112 LOC343190 LOC200008 1p32.3 hypothetical protein LOC200008 MRPL37 1p32.1 mitochondrial ribosomal protein L37 SSBP3 1p31.3 single stranded DNA binding protein 3 LOC391041 1 hypothetical gene supported by BC004945 THEA 1p31.3 thioesterase, adipose associated MGC27169  hyporthetical protein MGC27169 TTC4 1p31.3 tetratricopeptide repeat domain 4 DKFZp727A071 1p32.2 similar to tRNA synthetase class II FLJ20619 1p32.3 hypothetical protein FLJ20619 FLJ40201 1p32.3 hypothetical protein FLJ40201 DHCR24 1p32 24-dehydrocholesterol reductase LOC199964 1p32.3 hypothetical protein LOC199964 BSND 1p31 hypothetical protein LOC199964 PCSK9 1p32.3 proprotein convertase subtilisin/kexin type 9 USP24 1p32.2-p31.2 ubiquitin specific protease 24 LOC388634 1 similar to Ubiquitin carboxyl-terminal hydrolase 24 (Ubiquitin thiolesterase 24) (Ubiquitin-specific processing protease 24) (Deubiquitinating enzyme 24) LOC388635 1 LOC388635 LOC391042 1 similar to glycogenin LOC391043 1 similar to Aspartate aminotransferase, mitochondrial precursor (Transaminase A) (Glutamate oxaloacetate transaminase-2) LOC127406 1p32.2 similar to 33K laminin receptor homolog - bovine PPAP2B 1pter-p22.1 phosphatidic acid phosphatase type 2B PRKAA2 1p31 protein kinase, AMP-activated, alpha 2 catalytic subunit
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