Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CLCN4 contributors: mct - updated : 22-09-2021
HGNC name chloride channel 4
HGNC id 2022
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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