P2RX2
Purinergic Receptor P2X 2
Gene Information Card
| Symbol | P2RX2 |
|---|---|
| Full Name | Purinergic Receptor P2X 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 22953 ncbi.nlm.nih.gov/gene/22953 |
| Ensembl ID | ENSG00000187848 |
| UniProt ID | Q9UBL9 |
| OMIM ID | 600844 |
| HGNC ID | 15485 |
| Aliases | P2X2, P2RX2A, P2RX2B, DFNA41, DFNB41 |
Description
P2RX2 encodes the P2X2 receptor, an ATP-gated cation channel permeable to Ca2+, Na+, and K+. It is expressed in sensory neurons, inner ear hair cells, and various epithelia. The receptor mediates fast synaptic transmission, nociception, and mechanosensory transduction. Mutations in P2RX2 cause autosomal dominant (DFNA41) and recessive (DFNB41) nonsyndromic hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss DFNA41 | Dominant missense mutations (e.g., p.Val60Leu) impair channel desensitization, leading to altered ATP signaling in cochlear hair cells | ClinVar, OMIM |
| Nonsyndromic hearing loss DFNB41 | Recessive loss-of-function mutations reduce channel expression or ATP sensitivity | OMIM |
| Neuropathic pain | Gain-of-function variants enhance nociceptor excitability via increased Ca2+ influx | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | — | High |
| Brain (cerebellum, hippocampus) | — | Moderate |
| Spinal cord | — | Moderate |
| Lung | — | Low |
| Kidney | — | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | — | Recombinant expression used for functional studies |
| SH-SY5Y | — | Endogenous expression in neuronal model |
| HaCaT | — | Keratinocyte expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178G>C (p.Val60Leu) | Missense | Rare | Dominant; impairs desensitization, causes DFNA41 |
| c.1018C>T (p.Arg340*) | Nonsense | Rare | Loss-of-function; recessive DFNB41 |
| c.862G>A (p.Gly288Arg) | Missense | Rare | Reduced ATP sensitivity; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg340*) lead to truncated protein or nonsense-mediated decay, reducing functional channels.
Gain of Function (GOF)
Missense variants (e.g., p.Val60Leu) slow channel desensitization, prolonging ATP-evoked currents.
Dominant Negative (DN)
Some missense mutations may co-assemble with wild-type subunits, impairing overall channel function.
View complete mutation data：
Gene Ontology (GO)
| • ATP-gated cation channel activity (GO:0004931) | • Extracellular ATP-gated monoatomic ion channel activity (GO:0004931) |
| • Receptor complex (GO:0043235) | • Plasma membrane (GO:0005886) |
| • Synaptic transmission (GO:0007268) | • Sensory perception of sound (GO:0007605) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• ATP-gated P2X receptor signaling (KEGG: hsa04080)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
The P2X2 protein is a 472-amino acid transmembrane receptor that forms homotrimeric or heterotrimeric ATP-gated channels. Each subunit has two transmembrane domains, a large extracellular loop with ATP-binding sites, and intracellular N- and C-termini. The channel rapidly desensitizes upon ATP binding. Alternative splicing generates isoforms (P2X2a, P2X2b) with distinct C-terminal tails affecting trafficking and kinetics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX2 Knockout HEK293 Cell Line | EDJ-KQ1571 | Human | 22953 | Details Get a Quote |
| P2RX2 Knockout HeLa Cell Line | EDJ-KQ55662 | Human | 22953 | Details Get a Quote |
| P2RX2 Knockout A-549 Cell Line | EDJ-KQ64161 | Human | 22953 | Details Get a Quote |
| P2RX2 Knockout HCT 116 Cell Line | EDJ-KQ72607 | Human | 22953 | Details Get a Quote |
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