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FLASH GENE
Symbol CLCNKB contributors: mct - updated : 06-03-2017
HGNC name chloride channel Kb
HGNC id 2027
DNA
TYPE functioning gene
SPECIAL FEATURE
text tightly linked to CLCNKA (11kb apart)
STRUCTURE 13.59 kb     20 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
regionally located tightly linked to CLCNKA (11kb apart)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 2626 - 687 - 2015 26013830
19 - 2174 - 517 - 2015 26013830
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
 kidneyHenle's loopthin limb   Homo sapiens
 kidneyHenle's loopascending thick limb   Homo sapiens
Endocrineparathyroid    
Hearing/Equilibriumearinnercochlea   Homo sapiens
Urinarybladder    
 kidneynephron   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve membrane spanning domains (12TM)
  • cytoplasmic N and C termini
  • two CBS forming a stable globular domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Clcnkb
    Homologene
    FAMILY chloride channel Kb family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text basolateral membrane of the thick ascending limb of Henle loop
    basic FUNCTION
  • participating in renal NaCl reabsorption
  • reclaiming most of the chloride that is left in the urine
  • may be important in urinary concentrating mechanisms
  • key determinant of tubular reabsorption of chloride and electrolytes along the distal tubule
  • plays a major role in the absorption of NaCl in the distal nephron
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS excretion
    PATHWAY
    metabolism
    signaling
    a component heterodimerizing with Barttin (BSND)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to BSND
  • require the accessory subunit barttin for proper function and membrane insertion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSND3 , BSND4D , GTMS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Bartter-like syndrome type 4 (in association with CLCNKA mutation or not)
    Susceptibility to the development of essential hypertension
    Variant & Polymorphism other
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS