P2RX5

Chr 17

purinergic receptor P2X 5

Also known as: LRH-1, P2X5, P2X5R

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]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.27
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.000
Z-score 0.55
OE 0.88 (0.621.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.74Z-score
OE missense 1.13 (1.031.25)
283 obs / 250.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.621.27)
00.351.4
Missense OE?1.13 (1.031.25)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 21 / 23.9Missense obs/exp: 283 / 250.0Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →