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FLASH GENE
Symbol WNK4 contributors: mct/pgu - updated : 23-09-2018
HGNC name WNK lysine deficient protein kinase 4
HGNC id 14544
ASSOCIATED DISORDERS
corresponding disease(s) PHA2B
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
markedly augmented TRPC3-mediated Ca(2+) influx in vascular smooth muscle cells (VSMCs), which is the pathological hallmark of hypertension in resistance arteries
Susceptibility
  • to essential hypertension
  • to osteoporosis
  • Variant & Polymorphism SNP
  • polymorphism rs56116165 is a rare allelic variant in a candidate gene with a biological function in renal calcium homeostasis that may contribute to a genetic predisposition to osteoporosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS