InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PROKR2

Summary

InnateDB Protein

IDBP-51510.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PROKR2

Protein Name

prokineticin receptor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000217270

InnateDB Gene

IDBG-51508 (PROKR2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Hypogonadotropic hypogonadism 3 with or without anosmia (HH3) [MIM:244200]: 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). {ECO:0000269PubMed:17054399, ECO:0000269PubMed:22927827, ECO:0000269PubMed:23643382}. Note=The disease is caused by mutations 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). {ECO:0000269PubMed:17054399, ECO:0000269PubMed:22927827, ECO:0000269PubMed:23643382}.

Tissue Specificity

Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0004983	neuropeptide Y receptor activity

Biological Process

GO:0007186	G-protein coupled receptor signaling pathway
GO:0007218	neuropeptide signaling pathway
GO:0007623	circadian rhythm

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000276 G protein-coupled receptor, rhodopsin-like
IPR000611 Neuropeptide Y receptor family
IPR017452 GPCR, rhodopsin-like, 7TM
IPR019424 7TM GPCR, olfactory receptor/chemoreceptor Srsx

PFAM

PF00001
PF10320

PRINTS

PR00237
PR01012

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8NFJ6