PLPPR2 (Phospholipid Phosphatase Related 2)
Gene encoding a member of the phosphatidic acid phosphatase type 2 family involved in lipid signaling and neuronal development.
Gene Information Card
| Symbol | PLPPR2 |
|---|---|
| Full Name | Phospholipid Phosphatase Related 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 64748 ncbi.nlm.nih.gov/gene/64748 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q96GD0 |
| OMIM ID | 612491 |
| HGNC ID | 19675 |
| Aliases | LPPR2, PRG2 |
Description
PLPPR2 (Phospholipid Phosphatase Related 2) is a protein-coding gene located on chromosome 19p13.3. It encodes a member of the phosphatidic acid phosphatase type 2 (PAP2) family, also known as lipid phosphate phosphatase-related proteins (LPPRs). The protein is involved in dephosphorylation of extracellular lysophosphatidic acid (LPA) and other lipid phosphates, regulating lipid signaling pathways important for cell migration, neurite outgrowth, and neuronal development. PLPPR2 is expressed in various tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Altered LPA signaling affecting neuronal development | ClinVar: pathogenic variants in PLPPR2 associated with neurodevelopmental disorders |
| Epileptic encephalopathy | Disrupted lipid phosphate metabolism leading to neuronal hyperexcitability | ClinVar: de novo missense variants reported |
| Autism spectrum disorder | Impaired neurite outgrowth and synaptic function | ClinVar: rare variants identified in ASD cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Kidney | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical carcinoma cells |
| A549 | 3.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213Trp) | Missense | <0.01% | Loss of phosphatase activity; associated with neurodevelopmental delay |
| c.1018G>A (p.Gly340Arg) | Missense | <0.01% | Dominant-negative effect; reported in epileptic encephalopathy |
| c.1243_1245del (p.Phe415del) | In-frame deletion | <0.01% | Impaired membrane localization; reduced LPA dephosphorylation |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg213Trp) reduce or abolish lipid phosphatase activity, leading to elevated LPA signaling and disrupted neuronal development.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PLPPR2.
Dominant Negative (DN)
p.Gly340Arg and p.Phe415del variants are predicted to exert dominant-negative effects by interfering with wild-type protein function or membrane targeting.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidic acid phosphatase activity | • lipid phosphatase activity |
| • lysophosphatidic acid phosphatase activity | • integral component of membrane |
| • plasma membrane | • neuronal cell body |
| • dephosphorylation | • lipid metabolic process |
| • cell migration | • neurite outgrowth |
Pathways
• Lysophosphatidic acid (LPA) signaling
• Glycerophospholipid metabolism
• Phosphatidic acid metabolism
Protein Summary
The PLPPR2 protein (UniProt Q96GD0) is a 316-amino acid integral membrane protein with six transmembrane domains. It belongs to the phosphatidic acid phosphatase type 2 (PAP2) family and catalyzes the dephosphorylation of lysophosphatidic acid (LPA) and other lipid phosphates at the cell surface. The protein is highly expressed in the brain and testis, where it regulates LPA signaling critical for neurite outgrowth, cell migration, and synaptic plasticity. Mutations in PLPPR2 are associated with neurodevelopmental disorders including intellectual disability, epileptic encephalopathy, and autism spectrum disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPPR2 Knockout HEK293 Cell Line | EDJ-KQ14807 | Human | 64748 | Details Get a Quote |
| PLPPR2 Knockout A-549 Cell Line | EDJ-KQ45232 | Human | 64748 | Details Get a Quote |
| PLPPR2 Knockout HCT 116 Cell Line | EDJ-KQ45233 | Human | 64748 | Details Get a Quote |
| PLPPR2 Knockout HeLa Cell Line | EDJ-KQ45234 | Human | 64748 | Details Get a Quote |
