PLA2R1
Phospholipase A2 Receptor 1
Gene Information Card
| Symbol | PLA2R1 |
|---|---|
| Full Name | Phospholipase A2 Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.2 |
| NCBI Gene ID | 22925 ncbi.nlm.nih.gov/gene/22925 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | Q13018 |
| OMIM ID | 604939 |
| HGNC ID | 9047 |
| Aliases | PLA2R, PLA2-R, CLEC13C, MBR |
Description
PLA2R1 encodes the phospholipase A2 receptor 1, a type I transmembrane glycoprotein belonging to the C-type lectin family. It functions as a receptor for secretory phospholipase A2 (sPLA2) and is involved in inflammatory responses, cell proliferation, and immune regulation. The protein is primarily expressed in kidney podocytes and is the major autoantigen in idiopathic membranous nephropathy (IMN).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Idiopathic Membranous Nephropathy | Autoantibodies against PLA2R1 bind to podocyte-expressed receptor, leading to immune complex deposition and glomerular injury. | ClinVar, OMIM |
| Cancer (various) | PLA2R1 expression is altered in several cancers; may modulate tumor growth via sPLA2 signaling. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Placenta | 6.1 | Low |
| Spleen | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| A549 | 9.8 | Moderate expression |
| HepG2 | 3.4 | Low expression |
| K562 | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286G>A (p.Gly96Arg) | Missense | Rare | Unknown functional effect |
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Associated with IMN susceptibility |
| c.1780G>A (p.Val594Met) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLA2R1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for PLA2R1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phospholipase A2 pathway
• Immune system (innate immunity)
• NF-kappa B signaling
Protein Summary
PLA2R1 is a 180 kDa transmembrane receptor with a large extracellular domain containing a cysteine-rich region, a fibronectin type II domain, and eight C-type lectin-like domains. It binds secretory phospholipase A2 (sPLA2) and mediates downstream signaling, including calcium mobilization and MAPK activation. The receptor is highly expressed in kidney podocytes and is the target of autoantibodies in idiopathic membranous nephropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2R1 Knockout HEK293 Cell Line | EDJ-KQ7748 | Human | 22925 | Details Get a Quote |
| PLA2R1 Knockout A-549 Cell Line | EDJ-KQ33184 | Human | 22925 | Details Get a Quote |
| PLA2R1 Knockout HeLa Cell Line | EDJ-KQ33185 | Human | 22925 | Details Get a Quote |
| PLA2R1 Knockout HCT 116 Cell Line | EDJ-KQ72603 | Human | 22925 | Details Get a Quote |
