PLPPR4
Phospholipid Phosphatase Related 4
Gene Information Card
| Symbol | PLPPR4 |
|---|---|
| Full Name | Phospholipid Phosphatase Related 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.3 |
| NCBI Gene ID | 9890 ncbi.nlm.nih.gov/gene/9890 |
| Ensembl ID | ENSG00000117640 |
| UniProt ID | Q6T4P5 |
| OMIM ID | 607335 |
| HGNC ID | 19177 |
| Aliases | LPPR4, PRG-2, PLPPR4 |
Description
PLPPR4 (phospholipid phosphatase related 4) is a protein-coding gene that belongs to the phosphatidic acid phosphatase type 2 (PAP2) family. The encoded protein is a membrane-associated lipid phosphate phosphatase that dephosphorylates extracellular lysophosphatidic acid (LPA) and other lipid phosphates, regulating lipid signaling. It is highly expressed in the brain and plays a role in neuronal development, axon guidance, and synaptic plasticity. Mutations in PLPPR4 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair LPA dephosphorylation, disrupting neuronal migration and synaptic signaling | ClinVar, OMIM |
| Intellectual disability | Missense variants reduce phosphatase activity, affecting lipid-mediated signaling in neurons | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Heart | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Moderate expression |
| HeLa (cervical carcinoma) | 1.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.632G>A (p.Arg211Gln) | Missense | Rare | Reduced phosphatase activity; associated with neurodevelopmental disorder |
| c.1045C>T (p.Arg349Ter) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1234_1235del (p.Leu412ValfsTer5) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein; missense variants may impair catalytic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidic acid phosphatase activity | • lipid phosphatase activity |
| • membrane | • integral component of membrane |
| • dephosphorylation | • lipid metabolic process |
| • nervous system development | • axon guidance |
Pathways
• Lysophosphatidic acid (LPA) signaling
• Glycerophospholipid metabolism
Protein Summary
PLPPR4 encodes a 316-amino acid transmembrane protein with a conserved phosphatase domain. It localizes to the plasma membrane and dephosphorylates extracellular LPA to monoacylglycerol, thereby terminating LPA receptor signaling. The protein is critical for proper neuronal migration and axon outgrowth during development. Mutations that reduce its enzymatic activity are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPPR4 Knockout HEK293 Cell Line | EDJ-KQ6805 | Human | 9890 | Details Get a Quote |
| PLPPR4 Knockout HeLa Cell Line | EDJ-KQ55272 | Human | 9890 | Details Get a Quote |
| PLPPR4 Knockout A-549 Cell Line | EDJ-KQ63752 | Human | 9890 | Details Get a Quote |
| PLPPR4 Knockout HCT 116 Cell Line | EDJ-KQ72212 | Human | 9890 | Details Get a Quote |
