PLCH2: Phospholipase C Eta 2
A key enzyme in phosphoinositide signaling with roles in neuronal function and cancer
Gene Information Card
| Symbol | PLCH2 |
|---|---|
| Full Name | phospholipase C eta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 9651 ncbi.nlm.nih.gov/gene/9651 |
| Ensembl ID | ENSG00000149527 |
| UniProt ID | O75038 |
| OMIM ID | 608416 |
| HGNC ID | 30035 |
| Aliases | PLC-eta2, PLC-L2, KIAA1090 |
Description
PLCH2 encodes phospholipase C eta 2 (PLC-eta2), a member of the phospholipase C family that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). This enzyme is highly expressed in the brain and is involved in calcium signaling, neuronal excitability, and synaptic transmission. PLCH2 has been implicated in cancer through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Somatic mutations and altered expression may contribute to tumorigenesis via dysregulated calcium signaling | COSMIC, ClinVar |
| Colorectal cancer | Recurrent mutations observed in COSMIC database; potential role in Wnt pathway modulation | COSMIC |
| Lung cancer | Somatic missense mutations reported; functional impact under investigation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Testis | 4.1 | Medium |
| Adrenal gland | 3.5 | Medium |
| Lung | 1.2 | Low |
| Liver | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.6 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 2.1 | Moderate expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
| A549 (lung cancer) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.5% | Unknown; predicted damaging by SIFT |
| c.567C>T (p.Thr189Met) | Missense | 0.3% | Unknown; likely benign |
| c.890_891insA (p.Gln297fs) | Frameshift | 0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln297fs) are predicted to truncate the protein, abolishing catalytic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • signal transduction |
| • intracellular signal transduction | • regulation of cytosolic calcium ion concentration |
Pathways
• Phospholipase C signaling pathway
• Calcium signaling pathway
• Phosphatidylinositol signaling system
Protein Summary
Phospholipase C eta 2 (PLC-eta2) is a 1,303-amino-acid protein containing a pleckstrin homology (PH) domain, EF-hand motifs, and catalytic X and Y domains. It is activated by G-protein-coupled receptors and receptor tyrosine kinases, producing IP3 and DAG to mobilize intracellular calcium and activate protein kinase C. PLC-eta2 is particularly abundant in the nervous system, where it modulates neuronal firing and neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCH2 Knockout HEK293 Cell Line | EDJ-KQ6677 | Human | 9651 | Details Get a Quote |
| PLCH2 Knockout HeLa Cell Line | EDJ-KQ55217 | Human | 9651 | Details Get a Quote |
| PLCH2 Knockout A-549 Cell Line | EDJ-KQ63699 | Human | 9651 | Details Get a Quote |
| PLCH2 Knockout HCT 116 Cell Line | EDJ-KQ72160 | Human | 9651 | Details Get a Quote |
