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Reviewed April 2010
What is the official name of the AVPR2 gene?
The official name of this gene is “arginine vasopressin receptor 2.”
AVPR2 is the gene's official symbol. The AVPR2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the AVPR2 gene?
The AVPR2 gene provides instructions for making a protein known as the vasopressin V2 receptor. This receptor works together with a hormone called vasopressin or antidiuretic hormone (ADH) in the kidneys. The vasopressin V2 receptor is found in structures called collecting ducts, which are a series of small tubes that reabsorb water from the kidneys into the bloodstream.
The interaction between ADH and the vasopressin V2 receptor triggers chemical reactions that control the body's water balance. When a person's fluid intake is low or when a lot of fluid is lost (for example, through sweating), the body produces more ADH. This hormone attaches (binds) to the vasopressin V2 receptor and directs the kidneys to concentrate urine by reabsorbing some of the water back into the bloodstream. When fluid intake is adequate, less ADH is available to interact with the vasopressin V2 receptor. At these times, less water is reabsorbed into the bloodstream and the urine is more dilute.
How are changes in the AVPR2 gene related to health conditions?
Where is the AVPR2 gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 153,902,530 to 153,907,165
The AVPR2 gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the AVPR2 gene is located from base pair 153,902,530 to base pair 153,907,165 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AVPR2?
You and your healthcare professional may find the following resources about AVPR2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the AVPR2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding AVPR2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
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? in the Handbook.