PIK3C2B Gene - Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta
Comprehensive genomic and proteomic analysis of PIK3C2B, a class II PI3K family member involved in cell signaling and cancer.
Gene Information Card
| Symbol | PIK3C2B |
|---|---|
| Full Name | Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5287 ncbi.nlm.nih.gov/gene/5287 |
| Ensembl ID | ENSG00000133056 |
| UniProt ID | O00750 |
| OMIM ID | 602838 |
| HGNC ID | 8972 |
| Aliases | C2-PI3K, PI3K-C2beta, PIK3C2BETA |
Description
PIK3C2B encodes a class II phosphatidylinositol 3-kinase (PI3K) catalytic subunit that phosphorylates phosphatidylinositol-4-phosphate to generate phosphatidylinositol-3,4-bisphosphate. This enzyme is involved in various cellular processes including cell migration, growth factor signaling, and membrane trafficking. Mutations and altered expression of PIK3C2B have been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PI3K signaling; mutations may affect cell proliferation and survival | COSMIC; ClinVar |
| Breast cancer | Overexpression and somatic mutations reported | COSMIC; NCBI |
| Colorectal cancer | Somatic mutations identified | COSMIC |
| Lung cancer | Mutations and copy number alterations | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.8 nTPM | Medium |
| Heart | 3.2 nTPM | Low |
| Liver | 2.1 nTPM | Low |
| Kidney | 4.5 nTPM | Medium |
| Testis | 6.0 nTPM | Medium |
| Lung | 3.0 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.2 nTPM | Embryonic kidney |
| HeLa | 3.8 nTPM | Cervical cancer |
| A549 | 2.9 nTPM | Lung cancer |
| MCF7 | 5.1 nTPM | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.2567C>T (p.Pro856Leu) | Missense | <0.1% | Unknown |
| c.3456_3457insA | Frameshift | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
Protein Summary
PIK3C2B encodes a 1634-amino acid protein (UniProt O00750) with a molecular weight of approximately 184 kDa. It contains a C2 domain, a PI3K catalytic domain, and a PIK domain. The protein localizes to the plasma membrane and endosomes, and is involved in clathrin-mediated endocytosis and cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIK3C2B Knockout HEK293 Cell Line | EDJ-KQ1680 | Human | 5287 | Details Get a Quote |
| PIK3C2B Knockout A-549 Cell Line | EDJ-KQ21459 | Human | 5287 | Details Get a Quote |
| PIK3C2B Knockout HCT 116 Cell Line | EDJ-KQ21460 | Human | 5287 | Details Get a Quote |
| PIK3C2B Knockout HeLa Cell Line | EDJ-KQ21461 | Human | 5287 | Details Get a Quote |
| PIK3C2B Knockout HAP1 Cell Line | EDC09099 | Human | 5287 | Details Get a Quote |
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