Gene: LOC105377156
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: PROK2
Alternate names for this Gene: BV8|HH4|KAL4|MIT1|PK2
Gene Summary: This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 3
Location in Chromosome : 3p13
Description of this Gene: prokineticin 2
Type of Gene: protein-coding
rs104893767 in
LOC105377156;PROK2 gene and
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
PMID 17054399 2006 Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
PMID 18559922 2008 Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.