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FLASH GENE
Symbol CLCN4 contributors: mct - updated : 22-09-2021
HGNC name chloride channel 4
HGNC id 2022
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve alpha helical membrane spanning domains
  • cytoplasmic, N and C terminal domains
    • HOMOLOGY
    interspecies ortholog to rattus Clcn4-2
    Homologene
    FAMILY chloride channel family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • chloride voltage-gated channel activity
  • functioning as electrogenic exchanger, carrying a substantial amount of protons across the plasma membrane when activated by positive voltages
  • contributing to endosomal acidification and trafficking
  • stimulating copper incorporation into ceruloplasmin
  • may contribute to the pathogenesis of neuronal disorders
  • may compensate the charge accumulation by endosomal proton pumps
  • CLCN4 exhibits pronounced time- and voltage-dependent changes in current amplitude
  • CLCN4 gating is controlled by at least two distinct processes with different voltage dependences
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • essential role for CLCN4 in the modulation of TFRC accessibility at the cell surface through its role in endosomal acidification
  • unique oligomerization properties of CLCN4 permit regulated targeting of ClCN4 to various endosomal compartment systems via expression of different CLCN3 splice variants
    • cell & other
    REGULATION
    activated by positive voltages
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX49
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS