PI4K2A
phosphatidylinositol 4-kinase type 2 alpha
Summary
Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201562241 | 10:99,400,503 | G/A | — | uncertain significance |
| rs770009660 | 10:99,400,543 | C/T | — | uncertain significance |
| rs759390226 | 10:99,400,564 | C/A | — | pathogenic |
| rs2540116636 | 10:99,400,678 | C/T | — | uncertain significance |
| rs868850846 | 10:99,400,705 | C/T | — | uncertain significance |
| rs1222899305 | 10:99,400,753 | C/T | — | uncertain significance |
| rs2540117235 | 10:99,400,926 | C/T | — | uncertain significance |
| rs146419288 | 10:99,402,685 | T/C | intron variant | — |
| rs202070275 | 10:99,410,698 | A/G | — | uncertain significance |
| rs2540126742 | 10:99,410,747 | T/G | — | uncertain significance |
| rs184615614 | 10:99,410,891 | G/A | — | uncertain significance |
| rs61863300 | 10:99,413,491 | G/T | regulatory region variant | — |
| rs1034098630 | 10:99,416,600 | T/C | — | uncertain significance |
| rs146387356 | 10:99,416,644 | G/A | — | uncertain significance |
| rs118013296 | 10:99,416,671 | C/T | — | uncertain significance |
| rs1178530131 | 10:99,416,683 | C/G | — | uncertain significance |
| rs750236260 | 10:99,416,695 | C/T | — | uncertain significance |
| rs766055659 | 10:99,422,666 | C/T | — | pathogenic |
| rs371681790 | 10:99,422,723 | C/T | — | uncertain significance |
| rs149627559 | 10:99,426,290 | G/A | — | uncertain significance |
| rs754229656 | 10:99,433,372 | A/G | — | uncertain significance |
| rs1286781123 | 10:99,433,407 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.