P2RX6
Purinergic Receptor P2X 6
Gene Information Card
| Symbol | P2RX6 |
|---|---|
| Full Name | Purinergic Receptor P2X 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 9127 ncbi.nlm.nih.gov/gene/9127 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | O15547 |
| OMIM ID | 600414 |
| HGNC ID | 8537 |
| Aliases | P2X6, P2XM |
Description
P2RX6 encodes the P2X6 subunit of the ATP-gated purinergic receptor family. P2X receptors are ligand-gated ion channels that mediate fast excitatory neurotransmission in response to extracellular ATP. P2X6 subunits can form homomeric or heteromeric channels with other P2X subunits, contributing to diverse physiological processes including pain perception, inflammation, and neuronal signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hearing Loss | P2X6 expression in cochlear hair cells may modulate ATP-mediated auditory signaling; loss of function linked to sensorineural deafness in animal models. | Limited evidence from animal studies; human data scarce. |
| Neuropathic Pain | Altered P2X6 expression in dorsal root ganglia contributes to ATP-induced pain signaling. | Evidence from rodent models and expression studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 5.1 | Low |
| Spleen | 4.3 | Low |
| Testis | 3.9 | Low |
| Kidney | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.7 | Neuroblastoma cell line |
| HEK293 | 2.1 | Low expression |
| A549 | 1.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Val153Ile) | missense | 0.005% (gnomAD) | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular ATP-gated cation channel activity | • ion channel activity |
| • ATP binding | • plasma membrane |
| • synaptic transmission |
Pathways
• Purinergic signaling
• Ion channel transport
Protein Summary
The P2X6 protein is a 379-amino acid subunit of the P2X receptor family. It forms functional homomeric channels with low ATP sensitivity and can co-assemble with P2X2 and P2X4 subunits to form heteromeric channels. The protein contains two transmembrane domains, a large extracellular loop with ATP-binding sites, and intracellular N- and C-termini. P2X6 is predominantly expressed in the central nervous system and sensory neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX6 Knockout HEK293 Cell Line | EDJ-KQ1575 | Human | 9127 | Details Get a Quote |
| P2RX6 Knockout HeLa Cell Line | EDJ-KQ55090 | Human | 9127 | Details Get a Quote |
| P2RX6 Knockout A-549 Cell Line | EDJ-KQ63569 | Human | 9127 | Details Get a Quote |
| P2RX6 Knockout HCT 116 Cell Line | EDJ-KQ72037 | Human | 9127 | Details Get a Quote |
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