PI4K2A Gene - Phosphatidylinositol 4-Kinase Type 2 Alpha
Comprehensive genomic and functional overview of PI4K2A, a key enzyme in phosphoinositide signaling.
Gene Information Card
| Symbol | PI4K2A |
|---|---|
| Full Name | Phosphatidylinositol 4-kinase type 2 alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 55361 ncbi.nlm.nih.gov/gene/55361 |
| Ensembl ID | ENSG00000138107 |
| UniProt ID | Q9BTU6 |
| OMIM ID | 609763 |
| HGNC ID | 17985 |
| Aliases | PI4KII, PI4KII-alpha, PIK4CA |
Description
PI4K2A encodes phosphatidylinositol 4-kinase type 2 alpha, a lipid kinase that catalyzes the phosphorylation of phosphatidylinositol to phosphatidylinositol 4-phosphate (PI4P). This enzyme is involved in phosphoinositide signaling, membrane trafficking, and vesicular transport. It is ubiquitously expressed and plays roles in Golgi function, endosomal dynamics, and cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and seizures | Impaired PI4P synthesis affecting neuronal signaling | ClinVar; PMID: 31474318 |
| Cancer (various) | Altered phosphoinositide signaling promoting proliferation | COSMIC; PMID: 25631445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| K562 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | <0.01% | Reduced kinase activity |
| c.1048C>T (p.Arg350Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg166His reduces PI4K activity, impairing PI4P production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004430 - phosphatidylinositol 4-kinase activity | • GO:0006661 - phosphatidylinositol biosynthetic process |
| • GO:0016020 - membrane | • GO:0005794 - Golgi apparatus |
| • GO:0005768 - endosome |
Pathways
• Phosphatidylinositol phosphate metabolism (R-HSA-1483255)
• Golgi-to-ER retrograde transport (R-HSA-6811434)
Protein Summary
PI4K2A is a 479-amino acid protein with a predicted molecular weight of ~54 kDa. It contains a phosphatidylinositol 4-kinase catalytic domain and is membrane-associated via palmitoylation. The enzyme primarily localizes to Golgi and endosomal membranes, where it generates PI4P, a critical lipid second messenger and precursor for higher phosphoinositides. PI4K2A is involved in vesicle budding, lipid homeostasis, and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PI4K2A Knockout HEK293 Cell Line | EDJ-KQ1648 | Human | 55361 | Details Get a Quote |
| PI4K2A Knockout A-549 Cell Line | EDJ-KQ21380 | Human | 55361 | Details Get a Quote |
| PI4K2A Knockout HCT 116 Cell Line | EDJ-KQ21381 | Human | 55361 | Details Get a Quote |
| PI4K2A Knockout HeLa Cell Line | EDJ-KQ21382 | Human | 55361 | Details Get a Quote |
| PI4K2A Knockout HAP1 Cell Line | EDC08023 | Human | 55361 | Details Get a Quote |
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