PI4K2B Gene - Phosphatidylinositol 4-Kinase Type 2 Beta
A key enzyme in phosphoinositide signaling and vesicular trafficking
Gene Information Card
| Symbol | PI4K2B |
|---|---|
| Full Name | Phosphatidylinositol 4-kinase type 2 beta |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 55361 ncbi.nlm.nih.gov/gene/55361 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q8TCG2 |
| OMIM ID | 612101 |
| HGNC ID | 17633 |
| Aliases | PI4KIIB, PIK4CB, PI4K92 |
Description
PI4K2B encodes phosphatidylinositol 4-kinase type 2 beta, an enzyme that catalyzes the phosphorylation of phosphatidylinositol to phosphatidylinositol 4-phosphate (PI4P), a key lipid involved in Golgi trafficking, endosomal sorting, and signal transduction. The protein is membrane-associated and enriched in the Golgi apparatus and endosomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered PI4P levels affect cell proliferation and migration; PI4K2B overexpression observed in some tumors | COSMIC, literature |
| Neurodevelopmental disorders | Potential role in synaptic vesicle trafficking; rare variants reported | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | <0.01% | Unknown functional impact |
| c.452G>A (p.Arg151His) | missense | <0.01% | Unknown functional impact |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol phosphate metabolism (R-HSA-1483255)
• Golgi vesicle transport (R-HSA-199992)
Protein Summary
PI4K2B is a 481-amino acid protein with a molecular weight of ~54 kDa. It contains a phosphatidylinositol 4-kinase catalytic domain and is palmitoylated for membrane anchoring. The enzyme produces PI4P, a precursor for PI(4,5)P2 and PI(3,4,5)P3, regulating vesicular trafficking and cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PI4K2B Knockout HEK293 Cell Line | EDJ-KQ1649 | Human | 55300 | Details Get a Quote |
| PI4K2B Knockout A-549 Cell Line | EDJ-KQ21383 | Human | 55300 | Details Get a Quote |
| PI4K2B Knockout HCT 116 Cell Line | EDJ-KQ21384 | Human | 55300 | Details Get a Quote |
| PI4K2B Knockout HeLa Cell Line | EDJ-KQ21385 | Human | 55300 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
