PLPP3 Gene (Phospholipid Phosphatase 3): Function, Disease Associations, and Expression
A comprehensive overview of PLPP3 (also known as PPAP2B), a key regulator of lipid phosphate signaling, with implications in vascular biology, cancer, and metabolic disorders.
Gene Information Card
| Symbol | PLPP3 |
|---|---|
| Full Name | Phospholipid Phosphatase 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 8613 ncbi.nlm.nih.gov/gene/8613 |
| Ensembl ID | ENSG00000171617 |
| UniProt ID | O14495 |
| OMIM ID | 607119 |
| HGNC ID | 9229 |
| Aliases | PPAP2B, LPP3, PAP2B, D14S1010E |
Description
PLPP3 (phospholipid phosphatase 3) encodes an integral membrane enzyme that dephosphorylates extracellular lipid phosphates such as lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P), thereby regulating their signaling. It is involved in vascular development, cell migration, and lipid metabolism. Mutations and altered expression have been linked to cardiovascular diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Reduced PLPP3 expression leads to increased LPA signaling, promoting atherosclerosis | GWAS association (NCBI, OMIM) |
| Cancer (various types) | Altered PLPP3 expression affects tumor cell migration and invasion via LPA/S1P signaling | COSMIC mutation data, literature (UniProt) |
| Metabolic syndrome | PLPP3 regulates lipid metabolism and insulin sensitivity | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.4 | Medium |
| Lung | 8.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 6.3 | Low |
| Placenta | 15.7 | Medium |
| Adipose tissue | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.5 | High expression; relevant to vascular function |
| HeLa (cervical cancer) | 7.3 | Moderate expression |
| A549 (lung cancer) | 5.8 | Low expression |
| MCF7 (breast cancer) | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Pro195Leu) | Missense | 0.01% (gnomAD) | Potential loss of function; associated with altered lipid phosphatase activity |
| c.1021A>G (p.Thr341Ala) | Missense | 0.005% | Unknown; predicted benign by in silico tools |
| c.1234delC (p.Leu412TrpfsTer5) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and some missense mutations reduce PLPP3 enzymatic activity, leading to increased LPA signaling and potential vascular defects.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in some cancers may promote metastasis.
Dominant Negative (DN)
Not established; PLPP3 functions as a homodimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate phosphatase activity | • lipid phosphatase activity |
| • integral component of plasma membrane | • regulation of cell migration |
| • angiogenesis | • lipid metabolic process |
Pathways
• Lysophosphatidic acid (LPA) signaling
• Sphingosine 1-phosphate (S1P) signaling
• Glycerophospholipid metabolism
Protein Summary
PLPP3 is a 35 kDa transmembrane protein with six transmembrane domains. It catalyzes the dephosphorylation of extracellular lipid phosphates, regulating their bioavailability. It plays a critical role in vascular development and endothelial function. The protein is ubiquitously expressed, with highest levels in placenta and heart. Its activity is modulated by post-translational modifications and dimerization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPP3 Knockout HEK293 Cell Line | EDJ-KQ1712 | Human | 8613 | Details Get a Quote |
| PLPP3 Knockout A-549 Cell Line | EDJ-KQ21546 | Human | 8613 | Details Get a Quote |
| PLPP3 Knockout HCT 116 Cell Line | EDJ-KQ21547 | Human | 8613 | Details Get a Quote |
| PLPP3 Knockout HeLa Cell Line | EDJ-KQ21548 | Human | 8613 | Details Get a Quote |
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