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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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P2RX7
purinergic receptor P2X 7
Chromosome 12 · 12q24.31
NCBI Gene: 5027Ensembl: ENSG00000089041.18HGNC: HGNC:8537UniProt: Q99572
547PubMed Papers
20Diseases
5Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cell volumesodium channel activitybleb assemblypositive regulation of interleukin-1 beta productionmental or behavioural disordermale reproductive organ cancerArthralgianeoplasm
✦AI Summary

P2RX7 encodes a trimeric ion channel activated by extracellular ATP that functions as a key regulator of innate and adaptive immune responses 12. The receptor mediates ATP-gated cation flux across plasma membranes, primarily in immune cells including lymphocytes, macrophages, and microglia 12. Mechanistically, P2RX7 activation triggers NLRP3 inflammasome assembly, leading to production of inflammatory cytokines IL-1β and IL-18, cell death via pyroptosis, and modulation of metabolic processes 13. The P2RX7 gene exhibits multiple splice variants and polymorphisms that alter receptor function, with loss-of-function variants associated with reduced inflammasome activation and pyroptosis 3. Clinically, P2RX7 dysfunction contributes to autoinflammatory bone disease (CNO), with rare damaging variants identified in affected patients showing altered immune responses 3. P2RX7 variants are associated with hypertension risk and vascular injury through immune cell activation 4, Parkinson's disease susceptibility with earlier age-of-onset in LRRK2-mutation carriers 5, and Alzheimer's disease pathology through microglial IL-18 production and impaired amyloid-beta clearance 6. Additionally, the miR-211-5p/P2RX7 axis regulates neuronal ferroptosis in epilepsy through ERK/GPX4 signaling 7. P2RX7 thus represents a therapeutic target in inflammatory, neurodegenerative, and cardiovascular diseases.

Sources cited
1
P2X7R is expressed by innate and adaptive immune cells and mediates NLRP3 inflammasome activation, cytokine/chemokine release, T cell survival/differentiation, and cell death
PMID: 28723547
2
P2X7R is a trimeric ATP-gated ion channel present on multiple cell types that induces inflammatory molecule release, cell proliferation/death, and metabolic events in cell-specific manner
PMID: 28676924
3
Rare damaging P2RX7 variants in CNO patients cause altered potassium flux, inflammasome assembly, reduced IL-1β/IL-18 release, and impaired pyroptosis
PMID: 38401466
4
P2RX7 knockout or antagonism reduces angiotensin II-induced hypertension and vascular injury by decreasing perivascular T-cell infiltration and activation
PMID: 37796207
5
Common P2RX7 variants (Tyr155His, Arg276His, Glu496Ala) are associated with Parkinson's disease risk and earlier age-of-onset, particularly in LRRK2-mutation carriers
PMID: 39957192
6
P2RX7 activation in microglia-like cells upregulates IL-18 production and impairs amyloid-beta uptake; P2RX7 expression mediates association of IL-18 with Alzheimer's disease pathology
PMID: 40987420
7
miR-211-5p suppresses P2RX7 expression; P2RX7 activation promotes neuronal ferroptosis and oxidative stress in epilepsy through ERK signaling and GPX4 downregulation
PMID: 38191407
Disease Associationsⓘ20
mental or behavioural disorderOpen Targets
0.29Weak
male reproductive organ cancerOpen Targets
0.27Weak
ArthralgiaOpen Targets
0.18Weak
neoplasmOpen Targets
0.12Weak
rheumatoid arthritisOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
SepsisOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
major depressive disorderOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.09Suggestive
subarachnoid hemorrhageOpen Targets
0.09Suggestive
depressive disorderOpen Targets
0.09Suggestive
epilepsyOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets5
AZD9056Phase II
P2X purinoceptor 7 antagonist
chronic obstructive pulmonary disease
CE-224535Phase II/III
P2X purinoceptor 7 antagonist
Arthralgia
EVT401Phase I
P2X purinoceptor 7 antagonist
rheumatoid arthritis
GSK1482160Phase I
P2X purinoceptor 7 negative allosteric modulator
Pain
JNJ-54175446Phase I
P2X purinoceptor 7 antagonist
major depressive disorder
Related Genes
CASP1Protein interaction100%NLRP3Protein interaction100%P2RY12Protein interaction98%P2RY1Protein interaction95%GRIN2AProtein interaction95%GRIN2CProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
84%
Ovary
75%
Lung
49%
Liver
38%
Heart
18%
Gene Interaction Network
Click a node to explore
P2RX7CASP1NLRP3P2RY12P2RY1GRIN2AGRIN2C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99572
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.60–0.96]
RankingsWhere P2RX7 stands among ~20K protein-coding genes
  • #453of 20,598
    Most Researched547 · top 5%
  • #9,013of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedP2RX7
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
The P2X7 Receptor in Infection and Inflammation.
PMID: 28723547
Immunity · 2017
1.00
2
The P2X7 Receptor.
PMID: 28676924
Adv Exp Med Biol · 2017
0.90
3
Opposing effects of the purinergic P2X7 receptor on seizures in neurons and microglia in male mice.
PMID: 38777288
Brain Behav Immun · 2024
0.82
4
Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis.
PMID: 40371642
J Clin Invest · 2025
0.80
5
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
PMID: 38401466
J Autoimmun · 2024
0.80