P2RX1

Chr 17

purinergic receptor P2X 1

Also known as: P2X1

NCBI Gene: 5023ENSG00000108405UniProt: P51575

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]

127
ClinVar variants
29
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— P2RX1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 Pathogenic / Likely Pathogenic· 68 VUS of 127 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.21LOEUF
pLI 0.000
Z-score 0.81
OE 0.81 (0.56–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.02Z-score
OE missense 0.81 (0.72–0.92)
197 obs / 241.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.81 (0.56–1.21)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.81 (0.72–0.92)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 18 / 22.1Missense obs/exp: 197 / 241.7Syn Z: 0.14

ClinVar Variant Classifications

127 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
VUS68
Likely Benign14
Benign16
29
Pathogenic
68
VUS
14
Likely Benign
16
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
29
0
29
Likely Pathogenic
0
0
0
0
0
VUS
0
56
12
0
68
Likely Benign
0
3
5
6
14
Benign
0
1
13
2
16
Total060598127

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

P2RX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
NcRNAs-mediated P2RX1 expression correlates with clinical outcomes and immune infiltration in patients with breast invasive carcinoma.
Xu Y et al.·Aging (Albany NY)
2022Cohort
P2RX1 in neutrophils mediates JAK/STAT signaling pathway to regulate malignant phenotype of gastric Cancer cells.
Zhang Y et al.·Mol Genet Genomics
2025
A novel neutrophil extracellular trap-related gene signature for predicting glioblastoma prognosis.
Huang C et al.·Sci Rep
2025
P2RX1 Influences the Prognosis of Ph+/Ph-Like ALL through Energy and Calcium Metabolism.
Ye X et al.·Oncol Res
2025
P2RX1-blocked neutrophils induce CD8(+) T cell dysfunction and affect the immune escape of gastric cancer cells.
Zhang Y et al.·Cell Immunol
2025
Identification of Molecular Markers Predicting the Outcome of Anti-thrombotic Therapy After Percutaneous Coronary Intervention in Patients with Acute Coronary Syndrome and Atrial fibrillation: Evidence from a Meta-analysis and Experimental Study.
Li J et al.·J Cardiovasc Transl Res
2023Meta-analysis
ANP32A regulates histone H3 acetylation and promotes leukemogenesis.
Yang X et al.·Leukemia
2018
Identification of early coagulation changes associated with survival outcomes post severe burns from multiple perspectives.
Huang S et al.·Sci Rep
2024
Identification of a coagulation-related signature correlated with immune infiltration and their prognostic implications in lung adenocarcinoma.
Yang S et al.·Thorac Cancer
2023
Transcriptome Analysis of Reticulated Platelets Reveals a Prothrombotic Profile.
Bongiovanni D et al.·Thromb Haemost
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools