PIP4K2A Gene - Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha
Comprehensive genomic and functional analysis of PIP4K2A, a lipid kinase involved in phosphoinositide signaling, cancer, and neurological disorders.
Gene Information Card
| Symbol | PIP4K2A |
|---|---|
| Full Name | Phosphatidylinositol-5-phosphate 4-kinase type 2 alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.2 |
| NCBI Gene ID | 5305 ncbi.nlm.nih.gov/gene/5305 |
| Ensembl ID | ENSG00000120057 |
| UniProt ID | P48426 |
| OMIM ID | 603283 |
| HGNC ID | 8996 |
| Aliases | PIP5K2A, PIP4KII-alpha, PIP4KIIalpha |
Description
PIP4K2A encodes a member of the type II phosphatidylinositol-5-phosphate 4-kinase family. The enzyme catalyzes the phosphorylation of phosphatidylinositol-5-phosphate (PI5P) to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), a key lipid second messenger involved in cell signaling, vesicle trafficking, and cytoskeletal dynamics. PIP4K2A is implicated in cancer cell proliferation, metabolic regulation, and neurological function. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PIP4K2A expression affects PI(4,5)P2 levels, promoting cell migration and invasion. | PMID: 25609687 |
| Glioblastoma | PIP4K2A overexpression correlates with poor prognosis; regulates AKT signaling. | PMID: 29395067 |
| Schizophrenia | Genetic variants in PIP4K2A associated with risk; impacts phosphoinositide signaling in neurons. | PMID: 18470943 |
| Type 2 diabetes | PIP4K2A modulates insulin signaling via PI(4,5)P2 production. | PMID: 23395176 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 6.8 | Medium |
| Liver | 4.2 | Medium |
| Heart | 3.1 | Low |
| Kidney | 5.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 8.7 | Moderate expression |
| MCF7 | 6.3 | Moderate expression |
| A549 | 4.5 | Low expression |
| SH-SY5Y | 11.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional effect; reported in COSMIC |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging; observed in cancer samples |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | ClinVar uncertain significance; associated with schizophrenia in some studies |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism (Reactome: R-HSA-1483255)
• PI3K/AKT signaling (KEGG: hsa04151)
• Inositol phosphate metabolism (KEGG: hsa00562)
Protein Summary
PIP4K2A is a 406-amino acid lipid kinase that converts PI5P to PI(4,5)P2. It contains a conserved kinase domain and localizes to the cytosol and plasma membrane. The protein regulates cell growth, survival, and migration through modulation of phosphoinositide levels. It interacts with p53 and is involved in stress responses. Post-translational modifications include phosphorylation and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP4K2A Knockout HEK293 Cell Line | EDJ-KQ1673 | Human | 5305 | Details Get a Quote |
| PIP4K2A Knockout A-549 Cell Line | EDJ-KQ21446 | Human | 5305 | Details Get a Quote |
| PIP4K2A Knockout HeLa Cell Line | EDJ-KQ21447 | Human | 5305 | Details Get a Quote |
| PIP4K2A Knockout HCT 116 Cell Line | EDJ-KQ26291 | Human | 5305 | Details Get a Quote |
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