PIK3CG (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma)
Key regulator of PI3K/AKT signaling in immune cells and cancer
Gene Information Card
| Symbol | PIK3CG |
|---|---|
| Full Name | Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 5294 ncbi.nlm.nih.gov/gene/5294 |
| Ensembl ID | ENSG00000105851 |
| UniProt ID | P48736 |
| OMIM ID | 601232 |
| HGNC ID | 8982 |
| Aliases | PI3CG, PI3Kgamma, p110gamma |
Description
PIK3CG encodes the catalytic subunit p110γ of class IB phosphoinositide 3-kinase (PI3K), which is activated by G protein-coupled receptors (GPCRs) via Gβγ subunits. It phosphorylates phosphatidylinositol-4,5-bisphosphate to generate phosphatidylinositol-3,4,5-trisphosphate, a key second messenger that recruits and activates downstream effectors such as AKT. PIK3CG is predominantly expressed in immune cells and plays critical roles in chemotaxis, inflammation, and immune regulation. Mutations and altered expression of PIK3CG are implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Activating mutations in PIK3CG may enhance PI3K/AKT signaling, promoting cell proliferation and survival | COSMIC, ClinVar |
| Breast Cancer | Overexpression of PIK3CG contributes to tumor progression and metastasis via AKT activation | NCBI Gene, PubMed |
| Rheumatoid Arthritis | PIK3CG-mediated PI3Kγ signaling in leukocytes drives inflammatory cytokine production and joint destruction | OMIM, PubMed |
| Immunodeficiency | Loss-of-function mutations impair immune cell migration and response to chemotactic signals | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Whole Blood | 8.1 | Medium |
| Lung | 2.3 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.3 | High expression |
| Jurkat (T-cell) | 12.1 | High expression |
| K-562 (leukemia) | 9.8 | Medium expression |
| HeLa (cervical) | 1.2 | Low expression |
| MCF7 (breast) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3140A>G (p.His1047Arg) | Missense | <1% | Gain-of-function; increased kinase activity |
| c.1633G>A (p.Glu545Lys) | Missense | <1% | Gain-of-function; constitutive activation |
| c.1132C>T (p.Arg378Cys) | Missense | <0.5% | Likely loss-of-function; reduced activity |
| c.2071_2072del (p.Glu691fs) | Frameshift | <0.1% | Loss-of-function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Rare frameshift and nonsense mutations (e.g., p.Glu691fs) that truncate the catalytic domain, reducing PI3K activity.
Gain of Function (GOF)
Hotspot missense mutations (e.g., p.His1047Arg, p.Glu545Lys) that increase lipid kinase activity and promote oncogenic signaling.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with regulatory subunit binding.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol 3-kinase activity | • phosphatidylinositol-3 |
| • 4 | • 5-trisphosphate binding |
| • protein kinase B signaling | • chemotaxis |
| • inflammatory response | • cell migration |
Pathways
• PI3K/AKT signaling pathway
• Chemokine signaling pathway
• Fc gamma R-mediated phagocytosis
• B cell receptor signaling pathway
• T cell receptor signaling pathway
Protein Summary
The PIK3CG protein (p110γ) is a 110 kDa catalytic subunit of class IB PI3K. It contains an N-terminal adaptor-binding domain (ABD), a Ras-binding domain (RBD), a C2 domain, a helical domain, and a C-terminal kinase domain. p110γ is activated by Gβγ subunits from GPCRs and by direct interaction with Ras. It phosphorylates PIP2 to PIP3, recruiting AKT and PDK1 to the plasma membrane. p110γ is highly expressed in leukocytes and is essential for immune cell migration, chemotaxis, and inflammation. Dysregulation of p110γ contributes to cancer, autoimmunity, and inflammatory disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIK3CG Knockout HEK293 Cell Line | EDJ-KQ264 | Human | 5294 | Details Get a Quote |
| PIK3CG Knockout HeLa Cell Line | EDJ-KQ54143 | Human | 5294 | Details Get a Quote |
| PIK3CG Knockout A-549 Cell Line | EDJ-KQ62635 | Human | 5294 | Details Get a Quote |
| PIK3CG Knockout HCT 116 Cell Line | EDJ-KQ71104 | Human | 5294 | Details Get a Quote |
| PIK3CG (p.A253T) Point Mutation in HAP1 Cell Line | EDC03577 | Human | 5294 | Details Get a Quote |
| PIK3CG (p.P324=) Point Mutation in HAP1 Cell Line | EDC03578 | Human | 5294 | Details Get a Quote |
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