P2RX3

Chr 11

purinergic receptor P2X 3

Also known as: P2X3

NCBI Gene: 5024 ENSG00000109991 UniProt: P56373 OMIM: 600843

This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in P2RX3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

491 rare PASS variants

Rare truncating (LoF)

1 in 1,500

80 rare PASS variants

Rare synonymous (reference)

1 in 200

197 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for P2RX3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 5,100
South Asian	~43k	1 in 110	1 in 1,300
Remaining (unassigned)	~30k	1 in 140	1 in 1,100
European (Finnish)	~27k	1 in 430	1 in 1,100
Admixed American	~22k	1 in 90	1 in 620
African / African American	~21k	1 in 110	1 in 2,400
East Asian	~20k	1 in 94	1 in 490
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,884	1 in 150	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓