Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
PROKR2

PROKR2

Reviewed August 2008

What is the official name of the PROKR2 gene?

The official name of this gene is “prokineticin receptor 2.”

PROKR2 is the gene's official symbol. The PROKR2 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 PROKR2 gene?

The PROKR2 gene provides instructions for making a protein called prokineticin receptor 2. This receptor interacts with a protein called prokineticin 2 (produced from the PROK2 gene). On the cell surface, prokineticin 2 attaches to the receptor like a key in a lock. When the two proteins are connected, they trigger a series of chemical signals within the cell that regulate various cell functions.

In animal studies, prokineticin 2 and its receptor have been shown to play a role in the normal development of the olfactory bulb, which is a group of nerve cells in the brain that process smell. Research in animals has also suggested that prokineticin 2 and its receptor are involved in the movement (migration) of nerve cells that produce gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the gonads (ovaries in women and testes in men).

Several additional functions of prokineticin 2 and its receptor have been discovered in studies with animals. These proteins help stimulate the movement of food through the intestine and are likely involved in the formation of new blood vessels (angiogenesis). They also play a role in coordinating daily (circadian) rhythms, such as the sleep-wake cycle and regular changes in body temperature. Prokineticin 2 and its receptor are active in a region of the brain called the suprachiasmatic nucleus (SCN), which acts as an internal clock that controls circadian rhythms.

Little is known about the functions of prokineticin 2 and its receptor in humans. These proteins are produced in many organs and tissues, including the small intestine, certain regions of the brain, and several hormone-producing (endocrine) tissues. Researchers believe that the functions of these proteins in humans may be similar to their functions in other animals.

Does the PROKR2 gene share characteristics with other genes?

The PROKR2 gene belongs to a family of genes called GPCR (G protein-coupled 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? in the Handbook.

How are changes in the PROKR2 gene related to health conditions?

Kallmann syndrome - caused by mutations in the PROKR2 gene

At least 10 mutations in the PROKR2 gene can cause Kallmann syndrome type 3. Most of the mutations change single protein building blocks (amino acids) in prokineticin receptor 2. Researchers believe that these genetic changes disrupt the function of the receptor, but it is unclear how the altered protein leads to the characteristic features of Kallmann syndrome.

Based on studies in animals, researchers suspect that the abnormal prokineticin receptor 2 is unable to direct the migration of olfactory nerve cells and GnRH-producing nerve cells to their usual locations in the developing brain. If olfactory nerve cells do not extend to the olfactory bulb, a person's sense of smell will be impaired. Misplacement of GnRH-producing neurons prevents the production of certain sex hormones, which interferes with normal sexual development and causes puberty to be delayed or absent.

Because the features of Kallmann syndrome vary among individuals, researchers believe that additional genetic and environmental factors may be involved.

Where is the PROKR2 gene located?

Cytogenetic Location: 20p12.3

Molecular Location on chromosome 20: base pairs 5,301,064 to 5,316,731

The PROKR2 gene is located on the short (p) arm of chromosome 20 at position 12.3.

The PROKR2 gene is located on the short (p) arm of chromosome 20 at position 12.3.

More precisely, the PROKR2 gene is located from base pair 5,301,064 to base pair 5,316,731 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PROKR2?

You and your healthcare professional may find the following resources about PROKR2 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 PROKR2 gene or gene products?

  • GPR73b
  • GPR73L1
  • GPRg2
  • G protein-coupled receptor 73-like 1
  • KAL3
  • PKR2
  • PK-R2
  • PKR2_HUMAN

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 PROKR2?

acids ; angiogenesis ; calcium ; cell ; circadian rhythms ; gene ; hormone ; hypogonadism ; hypogonadotropic ; intestine ; nucleus ; olfactory bulb ; protein ; puberty ; receptor ; syndrome ; testes

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 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.

 
Reviewed: August 2008
Published: September 8, 2014