|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “nuclear receptor subfamily 3, group C, member 2.”
NR3C2 is the gene's official symbol. The NR3C2 gene is also known by other names, listed below.
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. One of these proteins transports sodium into the cell, while another protein simultaneously transports sodium out of the cell and potassium into the cell. These proteins help keep sodium in the body through a process called reabsorption and remove potassium from the body through a process called secretion.
The NR3C2 gene belongs to a family of genes called NR (nuclear hormone receptors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
One particular mutation in the NR3C2 gene can cause early-onset hypertension with severe exacerbation in pregnancy. People with this condition develop high blood pressure (hypertension) at an early age. The condition can affect males or females, and hypertension worsens in pregnant females.
The mutation involved in this condition changes one protein building block (amino acid) in the mineralocorticoid receptor protein. The amino acid serine is replaced with the amino acid leucine at position 810 in the protein (written as Ser810Leu or S810L). This mutation changes the shape of the receptor, which allows the receptor 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. Progesterone levels are elevated during pregnancy, which is why the condition worsens in pregnant females.
Cytogenetic Location: 4q31.1
Molecular Location on chromosome 4: base pairs 148,078,763 to 148,445,277
The NR3C2 gene is located on the long (q) arm of chromosome 4 at position 31.1.
More precisely, the NR3C2 gene is located from base pair 148,078,763 to base pair 148,445,277 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about NR3C2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
aldosterone ; amino acid ; autosomal ; autosomal dominant ; cell ; cell membrane ; DNA ; gene ; hyperkalemia ; hypertension ; hyponatremia ; kidney ; leucine ; mutation ; potassium ; progesterone ; protein ; receptor ; secretion ; serine ; sodium ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.