PLPPR3 (Phospholipid Phosphatase Related 3)
Gene encoding a member of the phosphatidic acid phosphatase type 2 domain-containing protein family, involved in lipid metabolism and signaling.
Gene Information Card
| Symbol | PLPPR3 |
|---|---|
| Full Name | Phospholipid Phosphatase Related 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 79912 ncbi.nlm.nih.gov/gene/79912 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q6T4P5 |
| OMIM ID | 618849 |
| HGNC ID | 19620 |
| Aliases | LPPR3, PRG-3, PAP2-like protein 3 |
Description
PLPPR3 (Phospholipid Phosphatase Related 3) is a protein-coding gene located on chromosome 19p13.3. It encodes a member of the phosphatidic acid phosphatase type 2 (PAP2) domain-containing family, also known as lipid phosphate phosphatase-related proteins. PLPPR3 is involved in the dephosphorylation of lipid phosphates, regulating lipid signaling and cellular processes such as cell migration and differentiation. The gene is expressed in various tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.2 | Moderate expression |
| SH-SY5Y | 8.9 | Higher expression in neuronal cells |
| HeLa | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in PLPPR3.
Gain of Function (GOF)
No documented gain-of-function mutations in PLPPR3.
Dominant Negative (DN)
No documented dominant-negative mutations in PLPPR3.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidic acid phosphatase activity | • lipid phosphatase activity |
| • magnesium ion binding | • integral component of membrane |
| • plasma membrane | • lipid metabolic process |
| • dephosphorylation |
Pathways
• Glycerophospholipid metabolism
• Sphingolipid signaling pathway
Protein Summary
The PLPPR3 protein (UniProt Q6T4P5) is a 316-amino acid transmembrane protein with a phosphatidic acid phosphatase type 2 (PAP2) domain. It catalyzes the dephosphorylation of lipid phosphates such as phosphatidic acid and lysophosphatidic acid, modulating lipid signaling. The protein is localized to the plasma membrane and is involved in cell migration and differentiation, particularly in neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPPR3 Knockout HEK293 Cell Line | EDJ-KQ12186 | Human | 79948 | Details Get a Quote |
| PLPPR3 Knockout A-549 Cell Line | EDJ-KQ40905 | Human | 79948 | Details Get a Quote |
| PLPPR3 Knockout HeLa Cell Line | EDJ-KQ57264 | Human | 79948 | Details Get a Quote |
| PLPPR3 Knockout HCT 116 Cell Line | EDJ-KQ74197 | Human | 79948 | Details Get a Quote |
