P2RY4
Purinergic Receptor P2Y4
Gene Information Card
| Symbol | P2RY4 |
|---|---|
| Full Name | Purinergic Receptor P2Y4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 5030 ncbi.nlm.nih.gov/gene/5030 |
| Ensembl ID | ENSG00000186912 |
| UniProt ID | P51582 |
| OMIM ID | 300038 |
| HGNC ID | 8541 |
| Aliases | P2Y4, P2Y purinoceptor 4, P2RY4 |
Description
P2RY4 encodes the P2Y4 receptor, a G protein-coupled receptor (GPCR) activated primarily by uridine triphosphate (UTP) and to a lesser extent by ATP. It is involved in chloride secretion, smooth muscle contraction, and inflammatory responses. The gene is located on the X chromosome and is expressed in various tissues including placenta, heart, and lung.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystic Fibrosis | P2Y4 receptor activation stimulates chloride secretion via CFTR; altered signaling may contribute to airway surface liquid dehydration | Inferred from functional studies in epithelial cells (NCBI Gene, UniProt) |
| Inflammatory Bowel Disease | P2Y4 modulates intestinal epithelial barrier function and immune cell recruitment | Association studies and expression analysis (ClinVar, NCBI) |
| Hypertension | P2Y4-mediated vasoconstriction and endothelial dysfunction | Experimental models (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.7 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| A549 | 7.8 | Lung epithelial cell line |
| Caco-2 | 5.4 | Intestinal epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare (0.01% in gnomAD) | Unknown functional effect |
| c.457G>A (p.Val153Ile) | Missense | Rare | Potential loss of function (ClinVar) |
| c.1A>G (p.Met1?) | Start loss | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and missense variants that impair receptor expression or signaling (e.g., p.Met1?, p.Val153Ile)
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • UTP receptor activity (GO:0016503) |
| • signal transduction (GO:0007165) | • chloride transport (GO:0006821) |
| • inflammatory response (GO:0006954) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• CFTR-dependent chloride secretion (Reactome: R-HSA-5620922)
Protein Summary
The P2Y4 receptor is a 365-amino acid GPCR with seven transmembrane domains. It couples primarily to Gq/11 proteins, leading to phospholipase C activation, intracellular calcium mobilization, and downstream effects on ion transport and smooth muscle contraction. The receptor is N-glycosylated and expressed on the plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RY4 Knockout HEK293 Cell Line | EDJ-KQ5393 | Human | 5030 | Details Get a Quote |
| P2RY4 Knockout HeLa Cell Line | EDJ-KQ54070 | Human | 5030 | Details Get a Quote |
| P2RY4 Knockout A-549 Cell Line | EDJ-KQ62558 | Human | 5030 | Details Get a Quote |
| P2RY4 Knockout HCT 116 Cell Line | EDJ-KQ71028 | Human | 5030 | Details Get a Quote |
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