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FLASH GENE
Symbol CLCN6 contributors: - updated : 06-03-2007
HGNC name chloride channel 6
HGNC id 2024
Location 1p36.2      Physical location : 11.866.206 - 11.903.200
Synonym name chloride channel protein 6
Synonym symbol(s) KIAA0046, CLC6, ClC-6
DNA
TYPE functioning gene
STRUCTURE 36.00 kb     23 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence   triplet
text structure CA repeat in intron 2
MAPPING cloned Y linked N status confirmed
Physical map
FLJ37118 1p36.22 hypothetical protein FLJ37118 LOC390996 1 similar to Cofilin, non-muscle isoform TARDBP 1p36.22 TAR DNA binding protein AF311304 1p36.22 hypothetical protein AF311304 MASP2 1p36.3-p36.2 mannan-binding lectin serine protease 2 SRM 1p36-p22 spermidine synthase PMSCL2 1p36.22 polymyositis/scleroderma autoantigen 2, 100kDa FRAP1 1p36.3-p36.2 FK506 binding protein 12-rapamycin associated protein 1 CDT6 1p36.3-p36.2 angiopoietin-like factor TERE1 1p36 angiopoietin-like factor KIAA1337 1p36.21 KIAA1337 protein FBXO2 1p36.21 F-box only protein 2 FBX30 1p36.21 F-box protein FBX30 FBXO6 1p36.23-p36.11 F-box only protein 6 MAD2L2 1p36 MAD2 mitotic arrest deficient-like 2 (yeast) LOC374946 1p36.21 hypothetical gene supported by AK075558; BC021286 AGTRAP 1p36.21 angiotensin II receptor-associated protein DKFZp434E1410 1p36.21 hypothetical protein DKFZp434E1410 MTHFR 1p36.3 5,10-methylenetetrahydrofolate reductase (NADPH) CLCN6 1p36.2 chloride channel 6 NPPA 1p36.2 natriuretic peptide precursor A NPPB 1p36.2 natriuretic peptide precursor B LOC390997 1 similar to SET binding factor 1 isoform a; myotubularin-related protein 5 MGC33867 1p36.21 hypothetical protein MGC33867 PLOD 1p36.31 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) MFN2 1p36.21 mitofusin 2 FLJ12438 1p36.21 hypothetical protein FLJ12438 TNFRSF8 1p36 tumor necrosis factor receptor superfamily, member 8 TNFRSF1B 1p36.32 tumor necrosis factor receptor superfamily, member 1B LOC390998 1 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) FLJ10619 DHRS3 1p36.1 dehydrogenase/reductase (SDR family) member 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- polyA site 5541 97.2 869 - Eggermont
- polyA site 3894 36 320 widely Eggermont
truncated at C terminus, four TM segment
- polyA site 3993 38.8 353 kidney specific Eggermont
truncated at C terminus, six TM segment
- polyA site 3858 34.5 308 widely Eggermont
truncated at C terminus, four TM segment
EXPRESSION
Type widely
constitutive of
   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  
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,endosome
    text colocalized with markers for late endosomes in neuronal cell bodies
    basic FUNCTION
  • chloride voltage-gated channel, regulating cell volume, membrane potential stabilization, transepithelial transport
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS