P2RX5

Chr 17

purinergic receptor P2X 5

Also known as: LRH-1, P2X5, P2X5R

NCBI Gene: 5026ENSG00000083454UniProt: Q93086

The P2RX5 protein functions as an ATP-gated ion channel that is permeable to potassium, sodium, calcium, and uniquely among P2X receptors, also chloride. Currently, no Mendelian diseases have been definitively associated with P2RX5 mutations in clinical databases. The gene shows low constraint against loss-of-function variants, suggesting that complete loss of P2RX5 function may be tolerated in humans.

ResearchSummary from RefSeq, UniProt
GOFmechanismLOEUF 1.27
Clinical Summary— P2RX5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 unique Pathogenic / Likely Pathogenic· 114 VUS of 169 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.000
Z-score 0.55
OE 0.88 (0.62–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.74Z-score
OE missense 1.13 (1.03–1.25)
283 obs / 250.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.88 (0.62–1.27)
0≤0.351.4
Missense OE1.13 (1.03–1.25)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 21 / 23.9Missense obs/exp: 283 / 250.0Syn Z: -0.72
DN
0.5870th %ile
GOF
0.6737th %ile
LOF
0.2971th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

169 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic1
VUS114
Likely Benign9
Benign2
Conflicting2
31
Pathogenic
1
Likely Pathogenic
114
VUS
9
Likely Benign
2
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
1
0
1
VUS
1
94
19
0
114
Likely Benign
0
4
4
1
9
Benign
2
0
0
0
2
Conflicting
—2
Total398551159

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

View in ClinVar →

Protein Context — Lollipop Plot

P2RX5 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of key mitophagy-related genes in osteomyelitis: Insights from differential gene expression and machine learning models.
Zhou S et al.·Medicine (Baltimore)
2025Functional
A systematic review and in silico study of potential genetic markers implicated in cases of overactive bladder.
Isali I et al.·Am J Obstet Gynecol
2023Review
Purinergic signaling elements are correlated with coagulation players in peripheral blood and leukocyte samples from COVID-19 patients.
Schultz IC et al.·J Mol Med (Berl)
2022Cohort
Dysfunctional Subcutaneous Fat With Reduced Dicer and Brown Adipose Tissue Gene Expression in HIV-Infected Patients.
Torriani M et al.·J Clin Endocrinol Metab
2016Cohort
Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.
Do Cao C et al.·Ann Endocrinol (Paris)
2025
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients