PIP4K2A
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
Summary
Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1208099926 | 10:22,826,164 | C/T | — | uncertain significance |
| rs80142698 | 10:22,826,178 | T/C | — | benign |
| rs1379858288 | 10:22,826,184 | G/T | — | uncertain significance |
| rs746203 | 10:22,830,541 | C/A | — | — |
| rs1269054384 | 10:22,830,760 | C/T | — | uncertain significance |
| rs561310438 | 10:22,830,768 | G/C | — | uncertain significance |
| rs2230470 | 10:22,830,790 | G/T | — | benign |
| rs746609921 | 10:22,830,843 | G/T | — | uncertain significance |
| rs770594227 | 10:22,830,852 | C/G | — | uncertain significance |
| rs62640376 | 10:22,830,857 | G/A | — | benign |
| rs371987267 | 10:22,830,862 | C/T | — | uncertain significance |
| rs767823609 | 10:22,830,879 | T/C | — | uncertain significance |
| rs61749168 | 10:22,830,922 | C/G | — | uncertain significance |
| rs10430590 | 10:22,833,063 | A/T | intron variant | — |
| rs7082618 | 10:22,834,473 | C/T | intron variant | — |
| rs4748812 | 10:22,839,083 | G/A | intron variant | benign |
| rs2230469 | 10:22,839,628 | T/C | missense variant | — |
| rs4748813 | 10:22,846,735 | T/A | — | — |
| rs7094131 | 10:22,847,439 | C/A | — | — |
| rs7088318 | 10:22,852,948 | C/A | intron variant | — |
| rs1434961899 | 10:22,862,272 | G/A | — | uncertain significance |
| rs10764338 | 10:22,866,892 | T/C | intron variant | — |
| rs2491409471 | 10:22,880,578 | T/C | — | uncertain significance |
| rs749950706 | 10:22,880,674 | A/T | — | uncertain significance |
| rs766438573 | 10:22,880,689 | G/A | — | uncertain significance |
| rs142114938 | 10:22,896,846 | C/T | — | benign |
| rs2491445394 | 10:22,896,927 | A/C | — | uncertain significance |
| rs2491449438 | 10:22,898,605 | C/T | — | uncertain significance |
| rs1627549 | 10:22,917,449 | C/T | intron variant | — |
| rs80313234 | 10:22,948,662 | G/C | intron variant | — |
| rs149788475 | 10:23,003,114 | A/C | — | uncertain significance |
| rs184663145 | 10:23,003,128 | C/A | — | uncertain significance |
| rs2491666060 | 10:23,003,192 | G/T | — | uncertain significance |
| rs770752156 | 10:23,003,225 | C/G | — | uncertain significance |
| rs199916094 | 10:23,003,230 | G/A | — | uncertain significance |
| rs762394208 | 10:23,003,243 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.