PIP4K2B
phosphatidylinositol-5-phosphate 4-kinase type 2 beta
Summary
The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758976 | 17:36,921,651 | G/C | downstream gene variant | — |
| rs1043515 | 17:36,922,196 | A/G | downstream gene variant | — |
| rs369204968 | 17:36,925,981 | T/C | — | uncertain significance |
| rs147308811 | 17:36,927,306 | C/T | — | uncertain significance |
| rs746277519 | 17:36,927,377 | G/A | — | uncertain significance |
| rs777156423 | 17:36,927,405 | C/G | — | uncertain significance |
| rs779320705 | 17:36,933,944 | A/G | — | uncertain significance |
| rs1425630895 | 17:36,933,982 | C/G | — | uncertain significance |
| rs2508814556 | 17:36,933,987 | C/G | — | uncertain significance |
| rs115485971 | 17:36,933,997 | C/T | — | likely benign |
| rs762235703 | 17:36,934,598 | C/T | — | uncertain significance |
| rs755891728 | 17:36,935,661 | G/A | — | uncertain significance |
| rs2508829072 | 17:36,936,749 | C/T | — | uncertain significance |
| rs754600970 | 17:36,936,784 | T/G | — | uncertain significance |
| rs7222446 | 17:36,937,711 | G/C | intron variant | — |
| rs1910042414 | 17:36,943,093 | G/T | — | uncertain significance |
| rs199776451 | 17:36,943,098 | C/G | — | uncertain significance |
| rs185605818 | 17:36,950,168 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.