PLCD4: Phospholipase C Delta 4
A key enzyme in phosphoinositide signaling with roles in cancer and development
Gene Information Card
| Symbol | PLCD4 |
|---|---|
| Full Name | Phospholipase C Delta 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 84812 ncbi.nlm.nih.gov/gene/84812 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q9NQ66 |
| OMIM ID | 608447 |
| HGNC ID | 9061 |
| Aliases | PLC-delta-4, PLC-IV, PLCD4 |
Description
PLCD4 encodes phospholipase C delta 4, an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate to generate the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). This gene is involved in intracellular signal transduction, cell proliferation, and differentiation. It is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PLCD4 expression may disrupt phosphoinositide signaling, promoting uncontrolled cell proliferation. | COSMIC, NCBI |
| Developmental disorders | Mutations in PLCD4 may affect embryogenesis through impaired IP3/DAG signaling. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| HeLa | 7.8 | Moderate expression in cervical cancer cells |
| A549 | 5.2 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Altered catalytic activity |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Potential loss of function |
| c.890_891insA | Frameshift | <0.001% | Truncated protein, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain.
Gain of Function (GOF)
Missense mutations that increase enzyme activity or alter substrate specificity.
Dominant Negative (DN)
Mutations that produce a non-functional protein that interferes with wild-type PLCD4 function.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase C activity | • calcium ion binding |
| • phosphatidylinositol phospholipase C activity | • signal transduction |
| • intracellular signal transduction | • phosphatidylinositol metabolic process |
Pathways
• Phospholipase C signaling pathway
• Calcium signaling pathway
• Inositol phosphate metabolism
• Phosphatidylinositol signaling system
Protein Summary
PLCD4 is a 756-amino acid protein belonging to the phospholipase C delta family. It contains a pleckstrin homology (PH) domain, EF-hand motifs, and a catalytic domain. The protein is primarily cytosolic but can translocate to the plasma membrane upon activation. It plays a role in calcium signaling and cell growth regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLCD4 Knockout HEK293 Cell Line | EDJ-KQ1617 | Human | 84812 | Details Get a Quote |
| PLCD4 Knockout A-549 Cell Line | EDJ-KQ21312 | Human | 84812 | Details Get a Quote |
| PLCD4 Knockout HeLa Cell Line | EDJ-KQ21313 | Human | 84812 | Details Get a Quote |
| PLCD4 Knockout HCT 116 Cell Line | EDJ-KQ74588 | Human | 84812 | Details Get a Quote |
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