PROKR2
Function
Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.
Involvement in disease
Hypogonadotropic hypogonadism 3 with or without anosmia
HH3
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
None
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in PROKR2 as well as in other HH-associated genes including KAL1, SEMA3A, PROK2, GNRH1 and FGFR1 (PubMed:17054399, PubMed:22927827, PubMed:23643382).
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
Tissue Specificity
Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
GPR73L1, PKR2, PROKR2, Prokineticin receptor 2, PK-R2, G-protein coupled receptor 73-like 1, G-protein coupled receptor I5E, GPR73b, GPRg2