P2RY2
Purinergic Receptor P2Y2
Gene Information Card
| Symbol | P2RY2 |
|---|---|
| Full Name | Purinergic Receptor P2Y2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 5029 ncbi.nlm.nih.gov/gene/5029 |
| Ensembl ID | ENSG00000175591 |
| UniProt ID | P41231 |
| OMIM ID | 600041 |
| HGNC ID | 8541 |
| Aliases | P2U, P2RU1, P2Y2, HP2U |
Description
P2RY2 encodes the P2Y2 purinergic receptor, a G protein-coupled receptor activated by extracellular ATP and UTP. It plays roles in ion transport, cell proliferation, inflammation, and vascular function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystic Fibrosis | Altered ion transport via CFTR modulation | ClinVar, NCBI |
| Dry Eye Syndrome | Receptor activation stimulates mucin secretion | NCBI, PubMed |
| Hypertension | Vascular smooth muscle contraction and endothelial response | NCBI, OMIM |
| Cancer (various) | Promotes cell proliferation and migration via MAPK/ERK signaling | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Salivary Gland | 15.3 | Medium |
| Kidney | 8.7 | Low |
| Heart | 6.2 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 18.4 | High expression |
| HEK293 (embryonic kidney) | 22.1 | High expression |
| HepG2 (liver) | 5.6 | Low expression |
| MCF7 (breast) | 9.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Reduced receptor activity |
| c.341G>A (p.Arg114His) | Missense | <0.01% | Altered ligand binding |
| c.682C>T (p.Arg228Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg34Cys reduces receptor activation by ATP/UTP
Gain of Function (GOF)
No confirmed gain-of-function mutations reported
Dominant Negative (DN)
No dominant-negative mutations described
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • ATP binding |
| • UTP binding | • signal transduction |
| • calcium ion transport | • cell proliferation |
| • inflammatory response |
Pathways
• Purinergic signaling
• Calcium signaling pathway
• MAPK signaling pathway
• CFTR regulation
Protein Summary
The P2Y2 receptor is a 377-amino acid transmembrane protein with seven helical domains. It couples to Gq/11 proteins, leading to phospholipase C activation, intracellular calcium mobilization, and downstream signaling affecting ion transport, cell growth, and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RY2 Knockout HEK293 Cell Line | EDJ-KQ5392 | Human | 5029 | Details Get a Quote |
| P2RY2 Knockout A-549 Cell Line | EDJ-KQ28531 | Human | 5029 | Details Get a Quote |
| P2RY2 Knockout HCT 116 Cell Line | EDJ-KQ28532 | Human | 5029 | Details Get a Quote |
| P2RY2 Knockout HeLa Cell Line | EDJ-KQ28533 | Human | 5029 | Details Get a Quote |
| P2ry2 Knockout ATDC-5 Cell Line | EDJ-KZ380 | Mouse | 18442 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
