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FLASH GENE
Symbol SLC12A6 contributors: mct/npt - updated : 15-09-2015
HGNC name solute carrier family 12 (potassium/chloride transporters), member 6
HGNC id 10914
Corresponding disease
ACCPN corpus callosum, agenesis of, with neuronopathy
Location 15q14      Physical location : 34.522.197 - 34.630.265
Synonym name
  • potassium chloride cotransporter 3
  • potassium chloride cotransporter KCC3a-S3
  • electroneutral potassium-chloride cotransporter 3
  • K-Cl cotransporter 3
  • Synonym symbol(s) KCC3, KCC3A, KCC3B, ACCPN, DKFZp434D2135
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 108.70 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 7502 - 1150 - Hsu (2007)
    25 - 7327 - 1099 - Hsu (2007)
    23 - 7688 - 1091 - Hsu (2007)
    26 - 7363 - 1091 - Hsu (2007)
    25 - 7754 - 1141 - Hsu (2007)
    23 - 7457 - 1135 - Hsu (2007)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Hearing/Equilibriumearinner   
    Nervousplexus choroid   highly
     spinal cord    
    Reproductivemale systemtestis  highly
    Respiratorylung   highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Nervouscentralwhite matter  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a variable N-terminal region
  • twelve transmembrane segments (12TM)
  • a large extracellular loop with five N-glycosylation sites
  • a large C-terminal domain (CTD) within the cytoplasm, critical for function, possibly due to defective protein–protein interactions
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.Elegans k02a2.3
    Homologene
    FAMILY
  • KCC family
  • SLC12A transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • playing a role in the development and maintenance of the nervous system
  • down-regulating E-cadherin/beta-catenin complex formation by inhibiting transcription of E-cadherin gene and accelerating proteosome-dependent degradation of beta-catenin protein, promoting epithelial-mesenchymal transition, thereby stimulating tumor progression
  • play an important role in the maintenance of cellular homeostasis (Adragna 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text amino-acid transporter
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potent negative regulator for E-cadherin gene expression
  • interaction with CKB has a major impact on the activity of the co-transporter, similar to the functional defect of ACCPN truncated variant
  • STK39 plays a role in regulating many biological activities, and interacts with SLC12A6
  • cell & other
    REGULATION
    activated by IGF1 (plays an important role in IGF1 receptor signaling to promote growth and spread of breast cancer cells) (Hsu 2007)
    repressed by decreased by TNF
    Other upregulated in vascular endothelial cells by VEGF
    ASSOCIATED DISORDERS
    corresponding disease(s) ACCPN
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    contribute to IGF1-enhanced KCC activity (Hsu 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS