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FLASH GENE
Symbol CLCN3 contributors: mct - updated : 11-05-2011
HGNC name chloride channel 3
HGNC id 2021
Location 4q33      Physical location : 170.541.721 - 170.642.156
Synonym symbol(s) CLC3, CLC-3
DNA
TYPE functioning gene
STRUCTURE 100.44 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
HADHAP 4q32 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene) LOC285507 4q32.3 similar to chromosome 9 open reading frame 34 LOC391715 4 similar to RING finger protein 15 (Zinc finger protein RoRet) (Tripartite motif-containing protein 38) TLL1 4q32-q33 tolloid-like 1 SPOCK3 4q32.3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 ANXA10 4q33 annexin A10 FLJ20035 4q32.3 hypothetical protein FLJ20035 FLJ31033 4q32.3 hypothetical protein FLJ31033 LOC285510 4q32.3 similar to hypothetical protein FLJ20035 KIAA0992 4q32.3 similar to hypothetical protein FLJ20035 FLJ14431 4q32.3 hypothetical protein FLJ14431 SH3MD2 4q32.3 SH3 multiple domains 2 NEK1 4q32.3 NIMA (never in mitosis gene a)-related kinase 1 CLCN3 4q33 chloride channel 3 FLJ20534 4q33 hypothetical protein FLJ20534 LOC389241 4 similar to unactive progesterone receptor, 23 kD; likely ortholog of mouse telomerase binding protein, p23 LOC152922 4q33 similar to Methylosome subunit pICln (Chloride conductance regulatory protein ICln) (I(Cln)) (Chloride channel, nucleotide sensitive 1A) (Chloride ion current inducer protein) (ClCI) (Reticulocyte pICln) KIAA0626 4q32.3 KIAA0626 gene product AADAT 4q32.2 aminoadipate aminotransferase LOC132604 4q34.1 GalNAc transferase 10 isoform-like GALNT7 4q31.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) HMGB2 4q31 high-mobility group box 2 SAP30 4q34.1 sin3-associated polypeptide, 30kDa SCRG1 4q31-q32 sin3-associated polypeptide, 30kDa LOC391716 4 similar to 60S ribosomal protein L5 LOC389242 4 LOC389242 HAND2 4q33 heart and neural crest derivatives expressed 2 FLJ11539 4q34.1 hypothetical protein FLJ11539 MORF4 4q33-q34.1 mortality factor 4 LOC391717 4 similar to RAN protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3953 - - predominantly in epithelial cells 2002 11967229
- - - - - - 2002 11967229
longer C-terminal domain,containing a consensus motif for binding to the second PDZ domain of SLC9A3R1
13 - 3982 - 818 - 2007 17882904
14 - 4058 - 866 - 2007 17882904
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Endocrinepancreas    
Hearing/Equilibriumear   highly
Nervousbrain     Homo sapiens
Reproductivefemale systemovary  highly
Urinarykidneyrenal medullapyramids   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothvessel   Homo sapiens
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
  • a CBS domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • required for normal NADPH oxidase activation in response to both particulate and soluble stimuli
  • may be playing an important role in neuronal cell function through regulation of membrane excitability by protein kinase C
  • involved in oxidant-dependent events in the polymorphonuclear leukocyte, including endotoxin priming and the maintenance of cellular quiescence
  • is important in volume-regulated anion channel Cl(-) currents function and cell volume regulation, and participates in the fibroblast-to-myofibroblast transition
  • innvolved in premitotic condensation that is an integral part of cell division, and is a critical regulator of the cell cycle in normal and malignant glial cells (
  • may contribute to the acidification of synaptic vesicles and endosomes
  • function in osteodifferentiation may be through the RUNX2 pathway
  • required for endosome-dependent signaling by the Nox1 NADPH oxidase in smooth muscle cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specific interaction of ClCN3 and CAMK2G (in ClCN3-expressing cells, inhibition of CAMK2G reduced glioma invasion to the same extent as direct inhibition of ClCN3)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    markedly reduces neointimal hyperplasia following vascular injury
    tumoral     --over  
    on the plasma membrane of human glioma cells where its activity is regulated through phosphorylation via Ca(2+)/calmodulin-dependent protein kinase II (CAMK2G)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    target for the prevention of inflammatory and proliferative vascular diseases
    cancerangiogenesis 
    target for the prevention of inflammatory and proliferative vascular diseases
    ANIMAL & CELL MODELS
  • ClC-3-null mice exhibited a reduction in neointimal area of the carotid artery 28 days after injury