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FLASH GENE
Symbol CLCN6 contributors: mct - updated : 09-12-2020
HGNC name chloride channel 6
HGNC id 2024
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselsaorta   
Digestivemouth   highly
Endocrineparathyroid   highly
Nervousnerve   highly
Reproductivefemale systemovary   
 male systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lining   
Muscularsmooth   
Muscularstriatumskeletal  
Nervouscentral  predominantly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve alpha helical membrane spanning protein cytoplasmic N and C terminals
  • two CBS forming a stable globular domain
    • HOMOLOGY
    interspecies homolog to murine Clcn6
    Homologene
    FAMILY CLCN family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • colocalized with markers for late endosomes in neuronal cell bodies
  • predominantly found in late endosomes of the nervous system
    • basic FUNCTION
  • chloride voltage-gated channel, regulating cell volume, membrane potential stabilization, transepithelial transport
  • CLCN6 is a Cl(-)/H(+) antiporter
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDHRND
    Susceptibility to epilepsy disorders
    Variant & Polymorphism other
  • pathogenic and likely pathogenic variants in CLCN6 in epilepsy disorders
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Clcn6 -/- mice have only mild neuronal lysosomal storage abnormalities