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FLASH GENE
Symbol CLCNKA contributors: mct - updated : 21-09-2011
HGNC name chloride channel Ka
HGNC id 2026
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 -/-