PLPP4 Gene - Phospholipid Phosphatase 4
Comprehensive gene information for PLPP4 (PPAP2C, PAP2C) - lipid phosphatase involved in cell signaling and cancer
Gene Information Card
| Symbol | PLPP4 |
|---|---|
| Full Name | phospholipid phosphatase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.12 |
| NCBI Gene ID | 80306 ncbi.nlm.nih.gov/gene/80306 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q86W46 |
| OMIM ID | 612337 |
| HGNC ID | 9229 |
| Aliases | PPAP2C, PAP2C, PAP-2c, LPP4 |
Description
PLPP4 (phospholipid phosphatase 4) encodes a member of the phosphatidic acid phosphatase (PAP) family, specifically type 2 phosphatidic acid phosphatase (PAP2). This enzyme catalyzes the dephosphorylation of phosphatidic acid (PA) to diacylglycerol (DAG) and inorganic phosphate, and also acts on lysophosphatidic acid (LPA) and ceramide-1-phosphate. PLPP4 is an integral membrane protein localized to the plasma membrane and endoplasmic reticulum, playing roles in lipid metabolism, cell signaling, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PLPP4 expression may affect LPA signaling and cell proliferation | COSMIC; PMID: 25691885 |
| Prostate cancer | Dysregulation of lipid phosphatase activity linked to tumor growth | COSMIC; PMID: 23431171 |
| Ovarian cancer | PLPP4 overexpression associated with poor prognosis | COSMIC; PMID: 22072529 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 10.1 | Medium |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Low |
| Lung | 9.8 | Medium |
| Ovary | 18.6 | High |
| Prostate | 14.3 | Medium |
| Testis | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 16.4 | High expression |
| PC3 (prostate cancer) | 13.8 | Medium expression |
| A549 (lung cancer) | 9.2 | Low expression |
| HeLa (cervical cancer) | 11.5 | Medium expression |
| HEK293 (embryonic kidney) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.541G>A (p.Gly181Arg) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.788_789insA (p.Tyr263*) | Frameshift nonsense | Rare | Predicted loss of function |
| c.1003C>T (p.Arg335Trp) | Missense | 0.03% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift nonsense mutation (p.Tyr263*) likely leads to truncated non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in PLPP4.
Dominant Negative (DN)
No dominant-negative mutations reported in PLPP4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidic acid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483257)
• Lysophosphatidic acid signaling (Reactome: R-HSA-418594)
Protein Summary
PLPP4 encodes a 283-amino acid integral membrane protein with six transmembrane domains. It belongs to the type 2 phosphatidic acid phosphatase family, which dephosphorylates phosphatidic acid to diacylglycerol, regulating lipid second messengers. The protein is widely expressed, with highest levels in testis and ovary. PLPP4 activity influences cell proliferation, migration, and survival through modulation of LPA and DAG signaling. Altered expression is observed in several cancers, suggesting a role in tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPP4 Knockout HEK293 Cell Line | EDJ-KQ14805 | Human | 196051 | Details Get a Quote |
| PLPP4 Knockout HeLa Cell Line | EDJ-KQ45231 | Human | 196051 | Details Get a Quote |
| PLPP4 Knockout A-549 Cell Line | EDJ-KQ67452 | Human | 196051 | Details Get a Quote |
| PLPP4 Knockout HCT 116 Cell Line | EDJ-KQ75846 | Human | 196051 | Details Get a Quote |
