PLD2 (Phospholipase D2)
A key enzyme in phospholipid metabolism, cell signaling, and vesicle trafficking, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | PLD2 |
|---|---|
| Full Name | phospholipase D2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 5338 ncbi.nlm.nih.gov/gene/5338 |
| Ensembl ID | ENSG00000129219 |
| UniProt ID | O14939 |
| OMIM ID | 602638 |
| HGNC ID | 9068 |
| Aliases | PLD1C, PLD2A, PLD2B |
Description
PLD2 encodes phospholipase D2, an enzyme that catalyzes the hydrolysis of phosphatidylcholine to generate phosphatidic acid and choline. This reaction is a critical step in intracellular signaling, membrane trafficking, and cytoskeletal reorganization. PLD2 is widely expressed and has been implicated in cell proliferation, migration, and survival. Dysregulation of PLD2 activity is associated with various cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Increased PLD2 activity may contribute to amyloid-beta production and tau phosphorylation | PMID: 19013282 |
| Breast cancer | PLD2 overexpression promotes cell proliferation and invasion via mTOR signaling | PMID: 23327922 |
| Colorectal cancer | PLD2 upregulation correlates with poor prognosis and metastasis | PMID: 25605247 |
| Huntington disease | Altered PLD2 expression linked to mutant huntingtin toxicity | PMID: 21367889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Moderate expression |
| A549 | 11.0 | Moderate expression |
| MCF7 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Cys) | Missense | <0.01% | Reduced catalytic activity |
| c.1045G>A (p.Glu349Lys) | Missense | <0.01% | Unknown functional effect |
| c.1966G>A (p.Val656Ile) | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
p.Arg58Cys reduces enzymatic activity in vitro.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PLD2.
Dominant Negative (DN)
Not described for PLD2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004630 - phospholipase D activity | • GO:0005886 - plasma membrane |
| • GO:0006629 - lipid metabolic process | • GO:0016020 - membrane |
| • GO:0007165 - signal transduction |
Pathways
• Phospholipase D signaling pathway (KEGG: hsa04072)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
• Ras signaling pathway (KEGG: hsa04014)
Protein Summary
Phospholipase D2 (PLD2) is a 933-amino-acid protein containing a phox homology (PX) domain, a pleckstrin homology (PH) domain, and two HKD catalytic motifs essential for lipase activity. It localizes primarily to the plasma membrane and endosomes. PLD2 generates phosphatidic acid, a lipid second messenger that recruits and activates proteins such as mTOR, Raf-1, and PKCζ. Its activity is regulated by small GTPases (ARF, Rho) and protein kinase C. PLD2 plays roles in vesicle budding, endocytosis, cell migration, and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLD2 Knockout HEK293 Cell Line | EDJ-KQ1251 | Human | 5338 | Details Get a Quote |
| CRISPLD2 Knockout HEK293 Cell Line | EDJ-KQ2738 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout A-549 Cell Line | EDJ-KQ25000 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout HCT 116 Cell Line | EDJ-KQ25002 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout HeLa Cell Line | EDJ-KQ25003 | Human | 83716 | Details Get a Quote |
| PLD2 Knockout A-549 Cell Line | EDJ-KQ20626 | Human | 5338 | Details Get a Quote |
| PLD2 Knockout HCT 116 Cell Line | EDJ-KQ20627 | Human | 5338 | Details Get a Quote |
| PLD2 Knockout HeLa Cell Line | EDJ-KQ20628 | Human | 5338 | Details Get a Quote |
| PLD2 Knockout HAP1 Cell Line | EDC07818 | Human | 5338 | Details Get a Quote |
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