PROK2
prokineticin 2
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. [provided by RefSeq, Jul 2008]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183366125 | 3:71,821,654 | A/C | — | likely benign |
| rs150696999 | 3:71,821,739 | A/G | — | likely benign |
| rs115261059 | 3:71,821,873 | G/A | — | benign |
| rs371819884 | 3:71,821,900 | C/T | — | uncertain significance |
| rs751742071 | 3:71,821,901 | G/A | — | uncertain significance |
| rs60239864 | 3:71,821,933 | G/T | — | benign |
| rs201632855 | 3:71,821,952 | G/A | — | likely pathogenic |
| rs376839931 | 3:71,821,963 | C/T | — | uncertain significance |
| rs144953748 | 3:71,821,964 | G/A | — | uncertain significance |
| rs138805187 | 3:71,821,969 | A/G | — | likely benign |
| rs143593211 | 3:71,822,256 | G/A | — | benign |
| rs115266413 | 3:71,823,358 | C/G | — | likely benign |
| rs3796224 | 3:71,823,582 | C/T | — | benign |
| rs751327748 | 3:71,823,583 | G/A | — | likely benign |
| rs1348400555 | 3:71,823,654 | T/C | — | uncertain significance |
| rs991290069 | 3:71,823,660 | T/C | — | likely pathogenic |
| rs539208425 | 3:71,823,677 | C/A | — | likely benign |
| rs9855562 | 3:71,823,863 | G/T | — | benign |
| rs60966405 | 3:71,830,341 | T/C | — | benign |
| rs773442177 | 3:71,830,622 | C/T | — | uncertain significance |
| rs121434272 | 3:71,830,623 | G/A | missense variant | pathogenic |
| rs765020287 | 3:71,830,625 | G/A | — | uncertain significance |
| rs1445383955 | 3:71,830,628 | A/G | — | uncertain significance |
| rs2471290031 | 3:71,830,635 | G/A | — | uncertain significance |
| rs751094853 | 3:71,830,655 | C/T | — | uncertain significance |
| rs1282942039 | 3:71,830,659 | T/C | — | uncertain significance |
| rs554675432 | 3:71,830,677 | — | — | pathogenic |
| rs1345415036 | 3:71,830,716 | C/G | — | uncertain significance |
| rs200922174 | 3:71,830,718 | C/T | — | likely pathogenic |
| rs587777864 | 3:71,830,739 | C/T | missense variant | pathogenic |
| rs775415770 | 3:71,830,741 | A/G | — | likely benign |
| rs763035971 | 3:71,830,743 | C/G | — | uncertain significance |
| rs373360007 | 3:71,830,752 | T/C | — | likely benign |
| rs2108200139 | 3:71,834,104 | T/C | — | uncertain significance |
| rs1192163413 | 3:71,834,106 | A/G | — | uncertain significance |
| rs104893767 | 3:71,834,110 | C/G | missense variant | pathogenic |
| rs1028548556 | 3:71,834,119 | C/T | — | uncertain significance |
| rs372623686 | 3:71,834,120 | G/C | — | likely benign |
| rs587777863 | 3:71,834,134 | C/A | missense variant | uncertain significance |
| rs1322076074 | 3:71,834,147 | C/G | — | uncertain significance |
| rs1369054897 | 3:71,834,158 | G/A | — | uncertain significance |
| rs1333419956 | 3:71,834,171 | G/A | — | likely benign |
| rs944502729 | 3:71,834,174 | C/A | — | likely benign |
| rs748593523 | 3:71,834,196 | C/T | — | uncertain significance |
| rs2050202850 | 3:71,834,197 | T/C | — | uncertain significance |
| rs2050202948 | 3:71,834,201 | C/T | — | uncertain significance |
| rs2108200396 | 3:71,834,205 | G/T | — | uncertain significance |
| rs552496938 | 3:71,834,207 | G/T | — | conflicting classifications of pathogenicity |
| rs371540146 | 3:71,834,208 | C/T | — | likely benign |
| rs1238761545 | 3:71,834,211 | T/C | — | likely benign |
| rs571314719 | 3:71,834,238 | T/C | — | benign |
| rs565707925 | 3:71,834,368 | C/G | — | likely benign |
| rs569855732 | 3:71,834,456 | A/G | — | likely benign |
| rs140668102 | 3:71,834,529 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.