PLCB3: Phospholipase C Beta 3
A key signaling enzyme in the phosphoinositide pathway, implicated in cancer and immune disorders.
Gene Information Card
| Symbol | PLCB3 |
|---|---|
| Full Name | Phospholipase C Beta 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 5331 ncbi.nlm.nih.gov/gene/5331 |
| Ensembl ID | ENSG00000149782 |
| UniProt ID | Q01970 |
| OMIM ID | 600230 |
| HGNC ID | 9056 |
| Aliases | PLC-beta-3, PLCB3_HUMAN |
Description
PLCB3 encodes phospholipase C beta 3, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol. It is activated by G-protein coupled receptors and plays a critical role in intracellular calcium signaling, cell proliferation, and immune responses. Mutations and altered expression are linked to various cancers and immune dysregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | PLCB3 overexpression promotes cell proliferation via enhanced IP3/DAG signaling | COSMIC, NCBI |
| Colorectal cancer | Somatic mutations (e.g., D1005G) alter enzyme activity and signaling | COSMIC, ClinVar |
| Immune deficiency | Loss-of-function variants impair T-cell receptor signaling | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 15.7 | Medium |
| Spleen | 22.1 | High |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Moderate expression |
| HepG2 | 20.5 | High expression |
| A549 | 9.8 | Low expression |
| Jurkat | 25.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| D1005G | Missense | 0.02% (COSMIC) | Alters catalytic activity |
| R1026C | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.1234del | Frameshift | <0.01% (ClinVar) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.1234del) lead to truncated protein and reduced enzymatic activity.
Gain of Function (GOF)
Missense mutations like D1005G may enhance phospholipase activity, promoting oncogenic signaling.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • signal transduction | • G-protein coupled receptor signaling pathway |
| • phosphatidylinositol metabolic process |
Pathways
• Phospholipase C signaling
• Calcium signaling pathway
• G alpha (q) signaling events
• Inositol phosphate metabolism
Protein Summary
Phospholipase C beta 3 (PLCB3) is a 1234-amino acid protein that catalyzes the hydrolysis of PIP2 into IP3 and DAG. It contains a pleckstrin homology domain, EF-hand motifs, and catalytic X and Y domains. The protein is membrane-associated and activated by Gq/11 subunits. It is widely expressed, with highest levels in immune tissues and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCB3 Knockout HEK293 Cell Line | EDJ-KQ321 | Human | 5331 | Details Get a Quote |
| PLCB3 Knockout A-549 Cell Line | EDJ-KQ18469 | Human | 5331 | Details Get a Quote |
| PLCB3 Knockout HCT 116 Cell Line | EDJ-KQ18470 | Human | 5331 | Details Get a Quote |
| PLCB3 Knockout HeLa Cell Line | EDJ-KQ18471 | Human | 5331 | Details Get a Quote |
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