PLCD3: Phospholipase C Delta 3
A key enzyme in phosphoinositide signaling, implicated in cancer and developmental disorders
Gene Information Card
| Symbol | PLCD3 |
|---|---|
| Full Name | Phospholipase C Delta 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 113026 ncbi.nlm.nih.gov/gene/113026 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q8N3E9 |
| OMIM ID | 608795 |
| HGNC ID | 17884 |
| Aliases | PLC-delta-3, PLC-delta3 |
Description
PLCD3 encodes phospholipase C delta 3, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). It is involved in calcium signaling, cell proliferation, and differentiation. Mutations and altered expression are linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of PLCD3 promotes cell proliferation and migration via PI3K/AKT pathway activation | PMID: 31467435 |
| Colorectal cancer | PLCD3 upregulation correlates with poor prognosis and increased metastasis | PMID: 30523347 |
| Esophageal squamous cell carcinoma | PLCD3 amplification and overexpression drive tumor growth | PMID: 27197152 |
| Developmental and epileptic encephalopathy | Homozygous missense mutations impair enzyme activity leading to neuronal dysfunction | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.1 | Medium |
| Testis | 22.4 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.9 | High expression |
| HepG2 | 14.2 | Medium expression |
| A549 | 9.8 | Low expression |
| MCF7 | 11.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1243G>A (p.Gly415Arg) | Missense | 0.001% | Reduced catalytic activity; associated with developmental encephalopathy (ClinVar) |
| c.1765C>T (p.Arg589Trp) | Missense | 0.002% | Loss of function; reported in epilepsy (ClinVar) |
| c.2023_2024insA (p.Thr675Asnfs*2) | Frameshift | <0.001% | Truncated protein; loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Gly415Arg, p.Arg589Trp) reduce or abolish phospholipase activity, impairing IP3/DAG signaling.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a functional gain but no activating mutations reported.
Dominant Negative (DN)
No dominant-negative mutations currently described in literature or databases.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • signal transduction |
| • inositol phosphate metabolic process | • cell proliferation |
| • plasma membrane |
Pathways
• Phospholipase C signaling pathway
• Calcium signaling pathway
• PI3K-Akt signaling pathway
• Inositol phosphate metabolism
Protein Summary
PLCD3 is a 789-amino acid protein belonging to the phospholipase C delta family. It contains pleckstrin homology (PH) domain, EF-hand domain, catalytic TIM barrel domain, and C2 domain. The enzyme is activated by calcium and G-protein subunits, and it localizes to the plasma membrane. It plays a critical role in generating second messengers for cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCD3 Knockout HEK293 Cell Line | EDJ-KQ1616 | Human | 113026 | Details Get a Quote |
| PLCD3 Knockout HeLa Cell Line | EDJ-KQ19962 | Human | 113026 | Details Get a Quote |
| PLCD3 Knockout A-549 Cell Line | EDJ-KQ21309 | Human | 113026 | Details Get a Quote |
| PLCD3 Knockout HCT 116 Cell Line | EDJ-KQ21310 | Human | 113026 | Details Get a Quote |
| PLCD3 Knockout HAP1 Cell Line | EDC08128 | Human | 113026 | Details Get a Quote |
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