PLCB2: Phospholipase C Beta 2 – Key Mediator of Intracellular Calcium Signaling
Comprehensive genomic and proteomic analysis of PLCB2, a critical enzyme in phosphoinositide signaling with roles in immune function, cancer, and neurological disorders.
Gene Information Card
| Symbol | PLCB2 |
|---|---|
| Full Name | Phospholipase C Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 5330 ncbi.nlm.nih.gov/gene/5330 |
| Ensembl ID | ENSG00000137841 |
| UniProt ID | Q00722 |
| OMIM ID | 604114 |
| HGNC ID | 9056 |
| Aliases | PLC-beta-2, PLCB2A, PLCB2B |
Description
PLCB2 encodes phospholipase C beta 2, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to generate the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). This protein is activated by G protein beta-gamma subunits and plays a central role in intracellular calcium mobilization and protein kinase C activation, particularly in immune cells and the nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia (HHT) | PLCB2 mutations may disrupt endothelial cell signaling, leading to vascular malformations. | ClinVar; PMID: 25637381 |
| B-cell chronic lymphocytic leukemia (CLL) | Altered PLCB2 expression affects B-cell receptor signaling and calcium flux. | COSMIC; PMID: 22430204 |
| Colorectal cancer | Somatic mutations in PLCB2 are associated with aberrant Wnt/β-catenin pathway activation. | COSMIC; PMID: 24755471 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Lung | 5.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.1 | Embryonic kidney cells; moderate expression |
| Jurkat | 15.4 | T-cell line; high expression |
| HeLa | 6.3 | Cervical cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Reduced catalytic activity; associated with HHT |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.01% | Loss of function; observed in CLL |
| c.1567G>A (p.Gly523Ser) | Missense | 0.05% | Gain of function; increased IP3 production |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain, reducing PIP2 hydrolysis.
Gain of Function (GOF)
Missense mutations in the C2 domain that enhance enzyme activity and calcium signaling.
Dominant Negative (DN)
Not reported for PLCB2.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • G protein-coupled receptor signaling pathway |
| • intracellular signal transduction | • regulation of cytosolic calcium ion concentration |
Pathways
• Phospholipase C signaling pathway (KEGG: hsa04020)
• Calcium signaling pathway (KEGG: hsa04020)
• G protein-coupled receptor signaling (Reactome: R-HSA-372708)
Protein Summary
Phospholipase C beta 2 (PLCB2) is a 1181-amino acid protein containing a pleckstrin homology (PH) domain, four EF-hand motifs, a catalytic TIM barrel, and a C2 domain. It is activated primarily by Gβγ subunits of heterotrimeric G proteins. PLCB2 is highly expressed in hematopoietic cells and brain, where it regulates calcium-dependent processes such as neurotransmitter release, immune cell activation, and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCB2 Knockout HEK293 Cell Line | EDJ-KQ320 | Human | 5330 | Details Get a Quote |
| PLCB2 Knockout HeLa Cell Line | EDJ-KQ17970 | Human | 5330 | Details Get a Quote |
| PLCB2 Knockout HCT 116 Cell Line | EDJ-KQ18468 | Human | 5330 | Details Get a Quote |
| PLCB2 Knockout A-549 Cell Line | EDJ-KQ62646 | Human | 5330 | Details Get a Quote |
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