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FLASH GENE
Symbol CLCNKB contributors: mct - updated : 06-03-2017
HGNC name chloride channel Kb
HGNC id 2027
Corresponding disease
BSND3 Bartter syndrome, type 3
BSND4D Bartter syndrome type 4, digenic
GTMS2 Gitelman syndrome 2
Location 1p36.13      Physical location : 16.370.246 - 16.383.802
Synonym name chloride channel protein ClC-Kb
Synonym symbol(s) CLCKB, hClC-Kb, ClC-K2, MGC24087
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
Physical map
MGC4342 CTRC 1p36.13 chymotrypsin C (caldecrin) ELA2A 1p36.13 elastase 2A ELA2B 1p36.13 pancreatic elastase IIB CASP9 1p36.3-p36.1 caspase 9, apoptosis-related cysteine protease KIAA0962 1p36.1 caspase 9, apoptosis-related cysteine protease AGMAT 1p36.13 agmatine ureohydrolase (agmatinase) LOC284722 1p36.13 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein DDI2 1p36.13 DNA-damage inducible protein 2 RSC1A1 1p36.1 regulatory solute carrier protein, family 1, member 1 KIAA0842 1p36.13 KIAA0842 protein LOC388595 1 similar to Hypothetical protein MGC37938 FBLP-1 1p36.13 filamin-binding LIM protein-1 LOC391007 1 similar to 60S ribosomal protein L12 LOC388596 1 similar to 40S ribosomal protein S16 SHARP 1p36.33-p36.11 similar to 40S ribosomal protein S16 ZNF151 1p36.1 zinc finger protein 151 (pHZ-67) MGC24047 1p36.13 hypothetical protein MGC24047 HSPB7 1p36.23-p34.3 heat shock 27kDa protein family, member 7 (cardiovascular) CLCNKA 1p36 chloride channel Ka CLCNKB 1p36.1 chloride channel Kb FLJ36766 1p36.13 hypothetical protein FLJ36766 EPHA2 1p36.1 EphA2 FLJ33962 1p36.13 hypothetical protein FLJ33962 LOC343531 1p36.13 similar to oral cancer overexpressed 2; transmembrane protein 16A (eight membrane-spanning domains) MGC10731 1p36.13 hypothetical protein MGC10731 KIAA1332 1p36.23-p36.11 KIAA1332 protein DKFZp566C0424 1p36.13 putative MAPK activating protein PM20,PM21 LOC391008 1 similar to ribosomal protein L22 FLJ10420 1p36.13 hypothetical protein FLJ10420 KIAA1922 1p36.13 KIAA1922 protein LOC391009 1 hypothetical gene supported by AB007923 FLJ20719 1p31 hypothetical protein FLJ20719 LOC388597 1 LOC388597 MGC12760 1p36.13 hypothetical protein MGC12760 LOC388598 1 similar to ring finger protein 123
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