P2RX5
Purinergic Receptor P2X 5
Gene Information Card
| Symbol | P2RX5 |
|---|---|
| Full Name | Purinergic Receptor P2X 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 5026 ncbi.nlm.nih.gov/gene/5026 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | Q93086 |
| OMIM ID | 600438 |
| HGNC ID | 8538 |
| Aliases | P2X5, P2X5R, ATP receptor |
Description
The P2RX5 gene encodes the P2X5 receptor, a member of the P2X family of ATP-gated ion channels. These receptors mediate fast excitatory neurotransmission and are involved in various physiological processes including inflammation, pain, and immune response. P2X5 forms homomeric or heteromeric channels that allow cation influx upon ATP binding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | Altered expression and function of P2X5 may contribute to tumor progression and metastasis. | ClinVar, COSMIC |
| Chronic Lymphocytic Leukemia | P2X5 mutations and aberrant expression linked to B-cell survival and proliferation. | COSMIC, NCBI |
| Inflammatory Bowel Disease | P2X5 variants associated with altered ATP signaling in intestinal inflammation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bladder | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 6.7 | Low |
| Testis | 15.2 | Medium |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| A549 | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
| MCF7 | 2.1 | Not detected |
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 impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Potential loss of function |
| c.1234delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or non-functional P2X5 receptor.
Gain of Function (GOF)
Not well documented; some missense variants may enhance channel activity.
Dominant Negative (DN)
Not reported for P2RX5.
View complete mutation data：
Gene Ontology (GO)
| • ATP-gated ion channel activity | • extracellular ATP-gated cation channel activity |
| • ion transport | • calcium ion transport |
| • cell surface receptor signaling pathway | • inflammatory response |
Pathways
• Purinergic signaling
• ATP-gated ion channels
• Neuroactive ligand-receptor interaction
Protein Summary
The P2X5 protein is a 422-amino acid transmembrane receptor that forms a trimeric ATP-gated cation channel. It is permeable to Na+, K+, and Ca2+ ions. The receptor is expressed in various tissues including bladder, lung, and immune cells. It plays roles in inflammation, pain perception, and cancer biology. Mutations in P2RX5 are associated with altered ATP signaling and disease states.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX5 Knockout HEK293 Cell Line | EDJ-KQ1574 | Human | 5026 | Details Get a Quote |
| P2RX5 Knockout A-549 Cell Line | EDJ-KQ21259 | Human | 5026 | Details Get a Quote |
| P2RX5 Knockout HCT 116 Cell Line | EDJ-KQ21260 | Human | 5026 | Details Get a Quote |
| P2RX5 Knockout HeLa Cell Line | EDJ-KQ21261 | Human | 5026 | Details Get a Quote |
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