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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
    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 -/-