PIP4K2B Gene - Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Beta
A key regulator of phosphoinositide signaling and potential cancer biomarker
Gene Information Card
| Symbol | PIP4K2B |
|---|---|
| Full Name | Phosphatidylinositol-5-phosphate 4-kinase type 2 beta |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 8396 ncbi.nlm.nih.gov/gene/8396 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | P78356 |
| OMIM ID | 603283 |
| HGNC ID | 8997 |
| Aliases | PIP5K2B, PIP4KII-beta, PIP4KIIB, PIP5KIIB |
Description
PIP4K2B encodes phosphatidylinositol-5-phosphate 4-kinase type 2 beta, an enzyme that catalyzes the phosphorylation of phosphatidylinositol-5-phosphate (PI5P) to phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2). This protein is involved in phosphoinositide signaling, cell proliferation, and vesicular trafficking. Alterations in PIP4K2B expression have been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of PIP4K2B promotes PI(4,5)P2 production, enhancing AKT signaling and cell survival | PMID: 25944712 |
| Colorectal cancer | PIP4K2B upregulation correlates with poor prognosis and increased proliferation | PMID: 29263200 |
| Type 2 diabetes | PIP4K2B variants associated with insulin resistance via altered phosphoinositide metabolism | PMID: 20628086 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 11.2 | Medium |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 10.5 | Medium expression |
| MCF7 | 18.1 | High expression |
| HepG2 | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Thr35Met) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Potential loss of kinase activity |
| c.832C>T (p.Arg278Trp) | Missense | <0.01% | Reported in COSMIC as somatic variant |
Mutation functional classification
Loss of Function (LOF)
p.Gly163Arg may reduce catalytic activity based on structural homology
Gain of Function (GOF)
No confirmed gain-of-function mutations reported
Dominant Negative (DN)
No evidence for dominant-negative effects
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
PIP4K2B is a 416-amino acid protein (UniProt P78356) belonging to the type II phosphatidylinositol-4-phosphate 5-kinase family. It localizes to the plasma membrane and endosomal compartments, converting PI5P to PI(4,5)P2. The protein contains a conserved kinase domain and is regulated by phosphorylation. It plays roles in cell migration, vesicle trafficking, and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP4K2B Knockout HEK293 Cell Line | EDJ-KQ1674 | Human | 8396 | Details Get a Quote |
| PIP4K2B Knockout A-549 Cell Line | EDJ-KQ21448 | Human | 8396 | Details Get a Quote |
| PIP4K2B Knockout HCT 116 Cell Line | EDJ-KQ21449 | Human | 8396 | Details Get a Quote |
| PIP4K2B Knockout HeLa Cell Line | EDJ-KQ21450 | Human | 8396 | Details Get a Quote |
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