P2RX7 Gene: P2X Purinoceptor 7
P2RX7 (P2X purinoceptor 7) is a protein-coding gene that encodes a ligand-gated cation channel activated by extracellular ATP, playing a critical role in immune response, inflammation, and cell death.
Gene Information Card
| Symbol | P2RX7 |
|---|---|
| Full Name | P2X purinoceptor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 5027 ncbi.nlm.nih.gov/gene/5027 |
| Ensembl ID | ENSG00000189041 |
| UniProt ID | Q99572 |
| OMIM ID | 602566 |
| HGNC ID | HGNC:8537 |
| Aliases | P2X7, P2Z receptor |
Description
The P2RX7 gene encodes the P2X purinoceptor 7, a member of the P2X receptor family of ligand-gated ion channels. It is activated by extracellular adenosine triphosphate (ATP) and mediates a variety of cellular responses, including inflammation, cytokine secretion, and cell death. The receptor is predominantly expressed in immune cells, such as macrophages, microglia, and lymphocytes, and is involved in the NLRP3 inflammasome activation pathway. P2RX7 has been implicated in numerous diseases, including chronic inflammation, neuropathic pain, osteoporosis, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | P2RX7 polymorphisms (e.g., 1513A>C) may affect receptor function, influencing apoptosis and tumor progression. | ClinVar, COSMIC |
| Osteoporosis | Loss-of-function variants reduce P2RX7-mediated osteoclast apoptosis, leading to increased bone resorption. | ClinVar, OMIM |
| Neuropathic pain | P2RX7 activation in microglia promotes release of pro-inflammatory cytokines, contributing to pain hypersensitivity. | NCBI, OMIM |
| Inflammatory bowel disease (IBD) | P2RX7 variants may alter inflammasome signaling, affecting intestinal inflammation. | ClinVar, OMIM |
| Major depressive disorder | P2RX7 polymorphisms are associated with altered inflammatory responses in the brain. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | High | High expression in immune cells (e.g., lymphocytes, monocytes) |
| Spleen | High | High expression in splenic immune cells |
| Lung | Medium | Expression in alveolar macrophages |
| Brain | Medium | Expression in microglia |
| Bone Marrow | Medium | Expression in hematopoietic cells |
| Liver | Low | Low expression in hepatocytes |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | High | High expression; used for inflammasome studies |
| U937 (lymphoma) | High | High expression in monocytic lineage |
| Jurkat (T-cell leukemia) | Medium | Moderate expression in T cells |
| HeLa (cervical carcinoma) | Low | Low expression; not a primary site |
| A549 (lung carcinoma) | Low | Low expression in epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Gln460Arg (rs2230912) | SNP | ~15% (heterozygous) | Gain-of-function; increased ATP sensitivity and pore formation |
| Ala348Thr (rs1718119) | SNP | ~30% (heterozygous) | Gain-of-function; enhanced receptor activity |
| His155Tyr (rs208294) | SNP | ~20% (heterozygous) | Gain-of-function; increased response to ATP |
| Glu496Ala (rs3751143) | SNP | ~10% (heterozygous) | Loss-of-function; reduced pore formation and cell death |
| Ile568Asn (rs1653624) | SNP | ~5% (heterozygous) | Loss-of-function; impaired receptor trafficking |
Mutation functional classification
Loss of Function (LOF)
Variants such as Glu496Ala reduce receptor function, impairing ATP-induced pore formation and cell death, which may contribute to immune dysregulation.
Gain of Function (GOF)
Variants like Gln460Arg and Ala348Thr enhance receptor activity, increasing ATP sensitivity and pro-inflammatory responses.
Dominant Negative (DN)
Some P2RX7 variants may exert dominant-negative effects by forming non-functional heterotrimers with wild-type subunits, reducing overall receptor activity.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • extracellular ATP-gated monoatomic cation channel activity |
| • protein homodimerization activity | • plasma membrane |
| • integral component of plasma membrane | • response to ATP |
| • inflammatory response | • cell death signaling |
| • positive regulation of cytokine production | • NLRP3 inflammasome complex |
Pathways
• P2RX7-mediated signaling
• NLRP3 inflammasome activation
• IL-1 beta production
• Apoptosis signaling
• Neuroinflammation pathway
Protein Summary
The P2X purinoceptor 7 (P2RX7) is a trimeric ATP-gated cation channel with two transmembrane domains and a large extracellular loop. Upon ATP binding, it opens to allow influx of Ca2+ and Na+ and efflux of K+, triggering downstream signaling cascades. Prolonged activation leads to the formation of a large non-selective pore, which can induce cell death. P2RX7 is crucial for inflammasome activation, particularly NLRP3, leading to IL-1β and IL-18 secretion. Its expression is tightly regulated in immune cells, and dysregulation is linked to various inflammatory and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX7 Knockout HEK293 Cell Line | EDJ-KQ968 | Human | 5027 | Details Get a Quote |
| P2RX7 Knockout HeLa Cell Line | EDJ-KQ54068 | Human | 5027 | Details Get a Quote |
| P2RX7 Knockout A-549 Cell Line | EDJ-KQ62556 | Human | 5027 | Details Get a Quote |
| P2RX7 Knockout HCT 116 Cell Line | EDJ-KQ71027 | Human | 5027 | Details Get a Quote |
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