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FLASH GENE
Symbol CLCNKA contributors: mct - updated : 21-09-2011
HGNC name chloride channel Ka
HGNC id 2026
Corresponding disease
BSND4D Bartter syndrome type 4, digenic
Location 1p36.13      Physical location : 16.348.485 - 16.360.544
Synonym name
  • chloride channel, kidney, A
  • Chloride channel protein ClC-Ka
  • Synonym symbol(s) CLC-K1, CLCK1, hClC-Ka, MGC61490, ClC-K1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text
  • tightly linked to CLCNKB (11kb apart)
  • within the same linkage-disequilibrium block as HSPB7
  • STRUCTURE 12.06 kb     20 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N 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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2556 75.15 687 - 2011 21248228
    20 - 2553 75.03 686 - 2011 21248228
    an alternate in-frame splice site in the 3' coding region
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea   Homo sapiens
    Urinarykidneynephron    Homo sapiens
     kidneyjuxtaglomerulus apparatusHenles loop highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve membrane spanning domains
  • two CBS forming a stable globular domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Clc-k1 channel
    Homologene
    FAMILY
  • chloride channelfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    text integral membrane proteine, highly expressed in the thin ascending limb of Henle's loop
    basic FUNCTION
  • kidney-specific chloride channel that mediates trans-epithelial chloride transport in the thin ascending limb of the Henle loop and in the inner medulla
  • involved in the renal concentration function
  • important for maintenance of the corticomedullary osmotic gradient and the kidney capacity to concentrate urine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heterodimeric channel with BSND (Barttin) in the thin ascending limb of Henle
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BSND4D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Bartter -like syndrome type 4 (in association with CLCNKB mutation or not)
    Susceptibility
  • to salt-sensitive hypertension
  • to heart failure
  • Variant & Polymorphism other
  • association between rs10927887 and heart failure
  • Candidate gene putative candidate gene for nephrogenic diabetes insipidus
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    nephrogenic diabetes insipidus in mice CLC-K1 -/-