P2RX3 Purinergic Receptor P2X 3
Ion channel gated by extracellular ATP, involved in pain sensation and sensory neurotransmission
Gene Information Card
| Symbol | P2RX3 |
|---|---|
| Full Name | Purinergic Receptor P2X 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 5024 ncbi.nlm.nih.gov/gene/5024 |
| Ensembl ID | ENSG00000109991 |
| UniProt ID | P56373 |
| OMIM ID | 600843 |
| HGNC ID | 8535 |
| Aliases | P2X3, P2X3R |
Description
P2RX3 encodes the P2X3 receptor, a ligand-gated ion channel activated by extracellular ATP. It forms homotrimeric channels or heterotrimers with P2X2, primarily expressed in sensory neurons. P2X3 mediates fast synaptic transmission in nociceptive pathways and is implicated in chronic pain, bladder dysfunction, and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic pain syndromes | Increased P2X3 activity enhances nociceptive signaling | ClinVar, OMIM |
| Overactive bladder | P2X3 upregulation in sensory afferents contributes to detrusor overactivity | NCBI Gene, OMIM |
| Neuropathic pain | P2X3 overexpression in dorsal root ganglia amplifies pain signals | ClinVar, PubMed |
| Inflammatory pain | ATP release from damaged cells activates P2X3 on nociceptors | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Dorsal root ganglion | 12.5 | High |
| Trigeminal ganglion | 10.8 | High |
| Bladder | 6.2 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuroblastoma cell line |
| HEK293 | 0.5 | Low endogenous expression |
| PC-12 | 7.1 | Rat pheochromocytoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Reported in ClinVar; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Gain-of-function variants are not documented; receptor overactivity is primarily due to increased expression.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • extracellular ATP-gated monoatomic ion channel activity | • ATP binding |
| • ion channel activity | • response to ATP |
| • sensory perception of pain | • transmembrane transport |
Pathways
• Purinergic signaling in nociception
• ATP-gated P2X receptor signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
The P2X3 protein is a 397-amino acid transmembrane ion channel with two transmembrane domains and a large extracellular loop. It forms functional homotrimers or heterotrimers with P2X2. Upon ATP binding, the channel opens to allow Na+, K+, and Ca2+ influx, depolarizing sensory neurons. It is a key target for analgesic drugs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX3 Knockout HEK293 Cell Line | EDJ-KQ1572 | Human | 5024 | Details Get a Quote |
| P2RX3 Knockout HeLa Cell Line | EDJ-KQ54067 | Human | 5024 | Details Get a Quote |
| P2RX3 Knockout A-549 Cell Line | EDJ-KQ62555 | Human | 5024 | Details Get a Quote |
| P2RX3 Knockout HCT 116 Cell Line | EDJ-KQ71026 | Human | 5024 | Details Get a Quote |
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