GENE REFERENCE / HGNC:18455

PROK2

prokineticin 2

protein-coding gene3p13Gene information

What does this gene do?

The PROK2 gene provides instructions for making a protein called prokineticin 2. This protein interacts with another protein called prokineticin receptor 2 (produced from the PROKR2 gene). On the cell surface, prokineticin 2 attaches (binds) 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. Prokineticin 2 and its receptor are produced in many organs and tissues, including the small intestine, certain regions of the brain, and several hormone-producing (endocrine) tissues.

Prokineticin 2 and its receptor play a role in the development of a group of nerve cells that are specialized to process smells (olfactory neurons). These neurons move (migrate) from the developing nose to a structure in the front of the brain called the olfactory bulb, which is critical for the perception of odors. Prokineticin 2 and its receptor are also involved in the migration of nerve cells that produce gonadotropin-releasing hormone (GnRH). GnRH controls the production of several hormones that direct sexual development before birth and during puberty. These hormones are also important for the normal function of the ovaries in women and the testes in men.

Several additional functions of prokineticin 2 and its receptor have been discovered. 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.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-12.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
hypogonadotropic hypogonadism 4 with or without anosmiaMONDO:0012528 · Evaluated 2022-03-22	Semidominant	DefinitiveBrain Malformations Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 116
Submissions for variants in or overlapping this gene: 192
Submissions explicitly reporting this gene: 169
Alleles reported pathogenic / likely pathogenic: 7
VariationIDs with uncertain significance: 50
VariationIDs with conflicting classifications: 6

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PROK2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 7 alleles in PROK2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PROK2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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