P2RX5

Chr 17

purinergic receptor P2X 5

Also known as: LRH-1, P2X5, P2X5R

NCBI Gene: 5026ENSG00000083454UniProt: Q93086

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]

168
ClinVar variants
32
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— P2RX5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 Pathogenic / Likely Pathogenic· 113 VUS of 168 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.
1.27LOEUF
pLI 0.000
Z-score 0.55
OE 0.88 (0.62–1.27)
Tolerant

Highly tolerant — LoF variants common in population

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

Tolerant to missense variation

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.0.88 (0.62–1.27)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.13 (1.03–1.25)
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.1.09
0≤1.21.6
LoF obs/exp: 21 / 23.9Missense obs/exp: 283 / 250.0Syn Z: -0.72

ClinVar Variant Classifications

168 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic1
VUS113
Likely Benign9
Benign2
Conflicting2
31
Pathogenic
1
Likely Pathogenic
113
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
0
93
20
0
113
Likely Benign
0
4
4
1
9
Benign
1
0
1
0
2
Conflicting
—2
Total197571158

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A truncation variant of the cation channel P2RX5 is upregulated during T cell activation.
Abramowski P et al.·PLoS One
2014
Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.
Do Cao C et al.·Ann Endocrinol (Paris)
2025
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
Germline Mutations in Familial Papillary Thyroid Cancer.
Sarquis M et al.·Endocr Pathol
2020Case report
Enhancing risk stratification models in localized prostate cancer by novel validated tissue biomarkers.
Olah C et al.·Prostate Cancer Prostatic Dis
2025Functional
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
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
Brief Report: Adipogenic Expression of Brown Fat Genes in HIV and HIV-Related Parameters.
Srinivasa S et al.·J Acquir Immune Defic Syndr
2019
Identification of key mitophagy-related genes in osteomyelitis: Insights from differential gene expression and machine learning models.
Zhou S et al.·Medicine (Baltimore)
2025Functional
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