PIP4K2C Gene - Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma
Comprehensive genomic and functional annotation of PIP4K2C, a lipid kinase involved in phosphoinositide signaling.
Gene Information Card
| Symbol | PIP4K2C |
|---|---|
| Full Name | phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 79837 ncbi.nlm.nih.gov/gene/79837 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8TBX8 |
| OMIM ID | 611549 |
| HGNC ID | 30005 |
| Aliases | PIP5K2C, PIP4KII-gamma, PIP4K2C_HUMAN |
Description
PIP4K2C encodes phosphatidylinositol-5-phosphate 4-kinase type 2 gamma, a member of the type II phosphatidylinositol-5-phosphate 4-kinase family. This 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. The gene is located on chromosome 12q13.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered phosphoinositide signaling may promote cell proliferation and survival. | COSMIC; limited direct evidence. |
| Developmental disorders | Potential role in PI(4,5)P2 homeostasis; not yet confirmed in human disease. | OMIM #611549; no established disease association. |
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 |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 6.5 | Low expression |
| HepG2 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
• PI5P
• PI4P and PI(4
• 5)P2 interconversion (Reactome: R-HSA-1660499)
Protein Summary
PIP4K2C is a 424-amino acid protein (UniProt Q8TBX8) that belongs to the type II phosphatidylinositol-5-phosphate 4-kinase family. It localizes to the plasma membrane and endomembranes, where it converts PI5P to PI(4,5)P2. The protein contains a conserved kinase domain and is involved in regulating phosphoinositide levels, impacting cell signaling and membrane dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIP4K2C Knockout HEK293 Cell Line | EDJ-KQ1671 | Human | 79837 | Details Get a Quote |
| PIP4K2C Knockout HCT 116 Cell Line | EDJ-KQ20097 | Human | 79837 | Details Get a Quote |
| PIP4K2C Knockout A-549 Cell Line | EDJ-KQ21444 | Human | 79837 | Details Get a Quote |
| PIP4K2C Knockout HeLa Cell Line | EDJ-KQ21445 | Human | 79837 | Details Get a Quote |
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