PIK3C2A Gene - Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha
A key regulator of phosphoinositide signaling, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | PIK3C2A |
|---|---|
| Full Name | Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
| Gene Type | protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 5286 ncbi.nlm.nih.gov/gene/5286 |
| Ensembl ID | ENSG00000008086 |
| UniProt ID | O00443 |
| OMIM ID | 603226 |
| HGNC ID | 8971 |
| Aliases | PI3K-C2α, C2A, PI3K-C2-alpha |
Description
PIK3C2A encodes the class II phosphoinositide 3-kinase (PI3K) catalytic subunit type 2 alpha (PI3K-C2α). This enzyme phosphorylates phosphatidylinositol-4-phosphate (PI4P) to generate phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) and also produces phosphatidylinositol-3,4-bisphosphate (PI(3,4)P2). It plays critical roles in vesicular trafficking, cell survival, proliferation, and cytoskeletal organization. Mutations in PIK3C2A are associated with a rare neurodevelopmental disorder and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations and copy number alterations may activate PI3K signaling, promoting tumor growth. | COSMIC; multiple studies (e.g., PMID: 22722829) |
| Breast cancer | Overexpression and mutations contribute to aberrant PI3K/AKT pathway activation. | COSMIC; PMID: 21706000 |
| Lung cancer | Amplification and mutations may drive oncogenic signaling. | COSMIC; PMID: 22980975 |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic loss-of-function mutations impair PI3K-C2α function, leading to disrupted neuronal development. | ClinVar; PMID: 28191889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.4 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 5.9 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.5 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma |
| MCF7 | 11.2 | Breast cancer |
| HepG2 | 6.4 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | Somatic (cancer) | Potential gain-of-function; activates PI3K signaling |
| c.4567C>T (p.Arg1523Ter) | Nonsense | Germline (neurodevelopmental) | Loss-of-function; haploinsufficiency |
| c.789_790del (p.Glu264fs) | Frameshift | Germline | Loss-of-function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause neurodevelopmental disorder with microcephaly and seizures, indicating essential role in brain development.
Gain of Function (GOF)
Somatic missense mutations in cancer may enhance kinase activity, promoting oncogenic PI3K signaling.
Dominant Negative (DN)
Not well documented; some mutations may exert dominant-negative effects by disrupting protein-protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4-phosphate 3-kinase activity | • ATP binding |
| • phosphatidylinositol-3 | • 4-bisphosphate biosynthetic process |
| • phosphatidylinositol-4 | • 5-bisphosphate biosynthetic process |
| • vesicle-mediated transport | • cell proliferation |
| • regulation of cell migration |
Pathways
• PI3K/AKT signaling pathway
• Phosphoinositide metabolism
• Vesicular trafficking (endocytosis
• exocytosis)
• Fc gamma receptor-mediated phagocytosis
Protein Summary
PIK3C2A encodes PI3K-C2α, a 1686-amino acid protein with a molecular mass of ~190 kDa. It contains a C2 domain, a helical domain, and a catalytic kinase domain. The protein localizes to the cytosol and membranes, particularly clathrin-coated vesicles. It regulates endosomal trafficking and autophagy. Its expression is ubiquitous but enriched in brain and testis. Post-translational modifications include phosphorylation and ubiquitination, affecting stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIK3C2A Knockout HEK293 Cell Line | EDJ-KQ1678 | Human | 5286 | Details Get a Quote |
| PIK3C2A Knockout HCT 116 Cell Line | EDJ-KQ20112 | Human | 5286 | Details Get a Quote |
| PIK3C2A Knockout A-549 Cell Line | EDJ-KQ21457 | Human | 5286 | Details Get a Quote |
| PIK3C2A Knockout HeLa Cell Line | EDJ-KQ21458 | Human | 5286 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
