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FLASH GENE
Symbol SLC12A6 contributors: mct/npt - updated : 09-06-2021
HGNC name solute carrier family 12 (potassium/chloride transporters), member 6
HGNC id 10914
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)
  • role for SLC12A6 in the proximal tubule glucose reabsorption mechanism and for SLC12A7 in salt reabsorption of the thick ascending loop of Henle's loop and acid secretion of the collecting duct
  • function of the peripheral nervous system depends likely on finely tuned, kinase-regulated SLC12A6 activity, implicating abnormal cell volume homeostasis as a previously unreported mechanism of axonal degeneration
  • is responsible for the efflux of K+ and Cl- in neurons to help maintain cell volume and intracellular chloride levels
  • releases chloride with potassium ions at the basolateral membrane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text amino-acid transporter
    PATHWAY
    metabolism
    signaling
  • novel pathway modulating the cell surface expression of SLC12A1 and SLC12A6 and this same pathway has opposite functional outcomes for these two cotransporters
    • 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