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NR3C2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NR3C2 gene

The NR3C2 gene provides instructions for making the mineralocorticoid receptor, a protein essential for regulating sodium levels, fluid balance, and blood pressure.

Normal Function

The NR3C2 gene provides instructions for making a protein called the mineralocorticoid receptor. This protein is important in regulating the amount of sodium in the body. Sodium regulation plays a role in blood pressure control and fluid balance.

Certain hormones called mineralocorticoids attach (bind) to and turn on (activate) the mineralocorticoid receptor. Aldosterone is one mineralocorticoid that activates the mineralocorticoid receptor. The activated mineralocorticoid receptor acts as a transcription factor, which is a protein that binds to specific regions of DNA and helps control the activity (transcription) of particular genes.

The mineralocorticoid receptor regulates specialized proteins in the cell membrane that control the transport of sodium or potassium into cells. In response to signals that sodium levels in the body are low, the mineralocorticoid receptor increases the number and activity of these proteins at the cell membrane, especially in certain kidney cells. These proteins help keep sodium in the body through a process called reabsorption and remove potassium from the body through a process called secretion.

Health Conditions Related to Genetic Changes

Pseudohypoaldosteronism type 1

More than 50 mutations in the NR3C2 gene have been identified in people with pseudohypoaldosteronism type 1 (PHA1), a condition that typically begins in infancy and is characterized by low levels of sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. In particular, NR3C2 gene mutations are involved in autosomal dominant PHA1, a relatively mild form of the condition that can improve in childhood.

Mutations in the NR3C2 gene lead to a nonfunctional or abnormally functioning mineralocorticoid receptor protein that cannot properly regulate the specialized proteins that transport sodium and potassium. As a result, sodium reabsorption and potassium secretion are both decreased, causing hyponatremia and hyperkalemia.

Other disorders

One particular mutation in the NR3C2 gene can cause early-onset hypertension with severe exacerbation in pregnancy. The mutation changes the amino acid serine to leucine at position 810 in the protein (written as Ser810Leu or S810L). This mutation changes the shape of the receptor, allowing it to be abnormally activated by non-mineralocorticoid hormones such as progesterone and cortisol. The increased mineralocorticoid receptor activity causes excessive sodium reabsorption, which leads to hypertension.

Other Names for This Gene

  • aldosterone receptor
  • FLJ41052
  • MCR
  • MCR_HUMAN
  • MGC133092
  • mineralocorticoid receptor
  • mineralocorticoid receptor 1
  • mineralocorticoid receptor delta
  • MLR
  • MR
  • NR3C2VIT
  • nuclear receptor subfamily 3, group C, member 2

Frequently Asked Questions

The autosomal dominant form, caused by mutations in the NR3C2 gene, is generally milder than the autosomal recessive form, which involves mutations in the ENaC sodium channel genes. In the dominant form, symptoms often improve or resolve spontaneously during childhood as the body adapts or as other regulatory mechanisms compensate. In contrast, the recessive form is more severe, often requiring lifelong dietary sodium supplementation and potassium restriction.
Yes, it can be misdiagnosed as adrenal insufficiency or other causes of hyponatremia and hyperkalemia. Confirmation requires a combination of blood tests showing low sodium, high potassium, and elevated aldosterone levels (indicating the body is producing the hormone but the receptor is not responding). Genetic testing for mutations in the NR3C2 gene is the definitive method to confirm the autosomal dominant form and distinguish it from other types of pseudohypoaldosteronism.
Management primarily involves a high-sodium diet to compensate for the kidneys' inability to reabsorb sodium effectively. This may include adding salt to food or using sodium chloride supplements under medical supervision. Simultaneously, potassium intake must be restricted to prevent hyperkalemia, which can be dangerous for the heart. Patients should avoid high-potassium foods like bananas, oranges, and potatoes, and may need to take potassium-binding medications if dietary changes are insufficient.
Early signs typically appear within the first few weeks of life and include poor feeding, vomiting, dehydration, and failure to thrive. Because the body cannot retain sodium properly, infants may also show signs of electrolyte imbalance such as lethargy, irritability, or seizures. Parents should monitor for excessive thirst and frequent urination, which are compensatory mechanisms for the body's attempt to manage fluid balance.
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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