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WNK4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WNK4 gene

The WNK4 gene produces a kinase enzyme that regulates blood pressure by controlling sodium and potassium transport in the kidneys.

Normal Function

The WNK4 gene provides instructions for the WNK4 protein, a kinase that regulates the transport of sodium and potassium across cell membranes in the kidneys. By adding phosphate groups to other proteins, WNK4 controls:

  • Sodium reabsorption: The process of moving sodium from kidney cells into the blood.
  • Potassium secretion: The process of moving excess potassium out of kidney cells to be removed in urine.

Depending on cellular conditions, WNK4 can either promote or inhibit these transport processes to maintain fluid and electrolyte balance.

Health Conditions Related to Genetic Changes

Pseudohypoaldosteronism type 2

Mutations in the WNK4 gene can cause pseudohypoaldosteronism type 2 (PHA2). These mutations alter the WNK4 protein in a way that impairs its breakdown, leading to an accumulation of the protein and increased WNK4 activity. This results in:

  • Increased sodium reabsorption
  • Reduced potassium secretion
  • High blood pressure (hypertension)
  • High levels of potassium in the blood (hyperkalemia)

Other disorders

Normal variations in the WNK4 gene have been associated with an increased risk of high blood pressure in individuals who do not have PHA2. This risk is likely influenced by a combination of genetic variations and environmental factors.

Frequently Asked Questions

The main signs and symptoms of pseudohypoaldosteronism type 2 (PHA2) are high blood pressure (hypertension) and elevated potassium levels in the blood (hyperkalemia), often without clear kidney dysfunction or other common causes. These symptoms can appear in childhood or adulthood and may be accompanied by metabolic acidosis.
Treatment for PHA2 primarily involves medications that help excrete potassium and lower blood pressure. Thiazide diuretics are often the first-line treatment as they promote potassium excretion and reduce sodium reabsorption. Dietary modifications, such as limiting potassium intake, may also be recommended.
Normal variations (polymorphisms) in the WNK4 gene have been associated with an increased risk of developing essential hypertension, even without having PHA2. This means you might have a genetic predisposition to high blood pressure, but environmental factors, diet, and lifestyle choices will also play a significant role in whether you develop the condition.
PHA2 is diagnosed based on clinical findings of hypertension and hyperkalemia, often with normal kidney function and specific hormone levels (e.g., low renin and aldosterone). Genetic testing for WNK4, WNK1, CUL3, or KLHL3 gene mutations confirms the diagnosis. Monitoring involves regular blood pressure checks, electrolyte measurements (especially potassium), and kidney function tests.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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