• Gene id: 5023

Gene Summary

• Gene Symbol: P2RX1   Gene   UCSC   Ensembl
• Aliases: P2X1
• Gene name: purinergic receptor P2X 1
• Alternate names: P2X purinoceptor 1, ATP receptor, P2X receptor, subunit 1, P2X1 receptor, purinergic receptor P2X, ligand gated ion channel, 1, purinergic receptor P2X1,
• Gene location: 17p13.2 (3916505: 3896590)     Exons: 12     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primar
• OMIM: 600845

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04611	Platelet activation
hsa04020	Calcium signaling pathway
hsa04611	Platelet activation
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Male factor infertility	MIK: 25160621
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 25160621
Reduced vas deferens contraction and male infertility	MIK: 10638758

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25160621	Male infertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
10638758	Reduced vas deferens contraction and male infertility				Male infertility