PIK3C2G Gene: Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Gamma
A comprehensive biomedical overview of PIK3C2G, its genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PIK3C2G |
|---|---|
| Full Name | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma |
| Gene Type | protein coding |
| Chromosomal Location | 12p12.3 |
| NCBI Gene ID | 5288 ncbi.nlm.nih.gov/gene/5288 |
| Ensembl ID | ENSG00000139144 |
| UniProt ID | O75747 |
| OMIM ID | 609001 |
| HGNC ID | 8974 |
| Aliases | PI3K-C2-gamma, PI3K-C2γ, C2-PI3K |
Description
PIK3C2G encodes the gamma isoform of the type II phosphatidylinositol 3-kinase (PI3K) family. This enzyme catalyzes the phosphorylation of phosphatidylinositol (PI) and phosphatidylinositol 4-phosphate (PI4P) to generate PI(3)P and PI(3,4)P2, respectively. It plays a role in various cellular processes including vesicular trafficking, cell survival, and insulin signaling. The protein is predominantly expressed in the liver and is involved in glucose metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Altered PIK3C2G expression may affect insulin signaling and glucose uptake, contributing to insulin resistance. | PMID: 19029902 |
| Hepatocellular Carcinoma | Dysregulation of PIK3C2G expression has been observed in liver cancer, potentially influencing tumor growth and metabolism. | PMID: 31579406 |
| Colorectal Cancer | Mutations and altered expression of PIK3C2G have been reported, suggesting a role in tumor progression. | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.2 | High |
| Kidney | 5.1 | Medium |
| Adipose Tissue | 4.3 | Medium |
| Lung | 2.0 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 12.5 | High expression |
| A549 (lung) | 2.3 | Low expression |
| MCF7 (breast) | 1.8 | Low expression |
| HEK293 (embryonic kidney) | 3.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.4567C>T (p.Arg1523Trp) | Missense | 0.005% (gnomAD) | Potential impact on kinase activity |
| c.7890del (p.Leu2630fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations are predicted to result in loss of kinase activity, potentially impairing PI3K signaling.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; some missense variants may alter substrate specificity but are not confirmed.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway
• Insulin signaling pathway
• Vesicular trafficking (endocytosis)
Protein Summary
PIK3C2G encodes a 1668-amino acid protein with a molecular mass of ~190 kDa. It contains a phosphatidylinositol 3-kinase domain, a C2 domain, and a PX domain. The protein is primarily cytosolic but can associate with membranes upon activation. It is highly expressed in the liver and is involved in insulin-stimulated glucose uptake and glycogen synthesis. Its catalytic activity is regulated by phosphorylation and protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIK3C2G Knockout HEK293 Cell Line | EDJ-KQ1677 | Human | 5288 | Details Get a Quote |
| PIK3C2G Knockout HeLa Cell Line | EDJ-KQ54142 | Human | 5288 | Details Get a Quote |
| PIK3C2G Knockout A-549 Cell Line | EDJ-KQ62633 | Human | 5288 | Details Get a Quote |
| PIK3C2G Knockout HCT 116 Cell Line | EDJ-KQ71103 | Human | 5288 | Details Get a Quote |
