PROK2 Chromosome 3
Prokineticin 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Prokineticin family"
Locus Type
gene with protein product
Location
3p13
Ensembl
ENSG00000163421
Associated Conditions (6)
Hypogonadotropic hypogonadism 4 with or without anosmia
PROK2-related disorder
Hypogonadotropic hypogonadism
Inborn genetic diseases
Male infertility with spermatogenesis disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS104893767
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia
Health Risk
RS121434272
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism
Health Risk
RS552496938
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia
Health Risk
RS587777863
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia
Health Risk
RS768413190
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Inborn genetic diseases
Health Risk
RS200922174
Likely pathogenic
Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
Health Risk
RS201632855
Likely pathogenic
Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
Health Risk
RS991290069
Likely pathogenic
PROK2-related disorder, PROK2-related disorder
Health Risk
RS2108197026
Pathogenic
Health Risk
RS554675432
Pathogenic
Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Inborn genetic diseases
Health Risk
RS587777864
Pathogenic
Hypogonadotropic hypogonadism 4 with or without anosmia, Hypogonadotropic hypogonadism 4 with or without anosmia
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893767 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia |
| RS121434272 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism |
| RS552496938 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia |
| RS587777863 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Hypogonadotropic hypogonadism 4 with or without anosmia |
| RS768413190 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Inborn genetic diseases |
| RS200922174 | Health Risk | Likely pathogenic | Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder |
| RS201632855 | Health Risk | Likely pathogenic | Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder |
| RS991290069 | Health Risk | Likely pathogenic | PROK2-related disorder, PROK2-related disorder |
| RS2108197026 | Health Risk | Pathogenic | — |
| RS554675432 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder, Inborn genetic diseases |
| RS587777864 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 4 with or without anosmia, Hypogonadotropic hypogonadism 4 with or without anosmia |