IP6K2
inositol hexakisphosphate kinase 2
Summary
This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2531694041 | 3:48,725,729 | T/G | — | uncertain significance |
| rs200712199 | 3:48,725,867 | C/T | — | likely benign |
| rs1046234047 | 3:48,725,893 | C/T | — | uncertain significance |
| rs1020131272 | 3:48,726,013 | C/T | — | uncertain significance |
| rs771127659 | 3:48,726,098 | G/A | — | uncertain significance |
| rs150229636 | 3:48,726,170 | T/G | — | likely benign |
| rs61754206 | 3:48,727,035 | T/G | — | uncertain significance |
| rs1323656033 | 3:48,727,060 | C/T | — | uncertain significance |
| rs1290709535 | 3:48,727,117 | G/A | — | uncertain significance |
| rs899241525 | 3:48,728,751 | C/T | — | uncertain significance |
| rs764158011 | 3:48,728,752 | G/A | — | uncertain significance |
| rs2077771289 | 3:48,728,889 | C/A | — | uncertain significance |
| rs575264529 | 3:48,730,418 | G/A | — | uncertain significance |
| rs2531748691 | 3:48,730,580 | C/T | — | uncertain significance |
| rs375195624 | 3:48,730,598 | G/T | — | uncertain significance |
| rs375230535 | 3:48,732,628 | G/A | — | uncertain significance |
| rs756111244 | 3:48,732,690 | G/T | — | uncertain significance |
| rs1293942158 | 3:48,732,709 | T/C | — | uncertain significance |
| rs6763557 | 3:48,734,471 | G/T | intron variant | — |
| rs28657585 | 3:48,736,216 | A/T | intron variant | — |
| rs73080312 | 3:48,737,847 | C/T | intron variant | — |
| rs185249509 | 3:48,739,286 | G/A | intron variant | — |
| rs143828290 | 3:48,748,181 | T/C | intron variant | — |
| rs9848203 | 3:48,753,149 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.