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GENATLAS PHENOTYPE

last update : 23-09-2013

Symbol	PHA2B
Location	17q21.31
Name	familial hypertension and hyperkalemia, type 2 B
Other name(s)	Gordon hyperkalemia-hypertension syndrome
Corresponding gene	WNK4
Main clinical features	hyperchloremic acidosis, a normal glomerular filtration rate and low renin levels, responsive to thiazide diuretics, pseudohypoaldosteronism chronic mineralocorticoid-resistant hyperkalemia with hypertension
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name	protein kinase, lysine deficient 4

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/gain of function	missense mutations clustered close to the coiled-coil domain leading to a gain of function
missense		abnormal protein/loss of function	564D>H, affects its interaction with the thiazide-sensitive target SLC12A3 and the potassium channel KCNJ1

Remark(s)

. causing mutations disrupt potentially a Ca(2+)-sensing mechanism around the acidic motif necessary for the regulation of WNK4 kinase activity by Ca(2+) ions (PMID: 22342722))