Gene Gene information from NCBI Gene database.
Entrez ID 5024
Gene name Purinergic receptor P2X 3
Gene symbol P2RX3
Synonyms (NCBI Gene)
P2X3
Chromosome 11
Chromosome location 11q12.1
Summary This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extrac
miRNA miRNA information provided by mirtarbase database.
28
miRTarBase ID miRNA Experiments Reference
MIRT573189 hsa-miR-3126-3p PAR-CLIP 20371350
MIRT573188 hsa-miR-1298-3p PAR-CLIP 20371350
MIRT573187 hsa-miR-4793-5p PAR-CLIP 20371350
MIRT573186 hsa-miR-221-5p PAR-CLIP 20371350
MIRT573185 hsa-miR-8073 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001614 Function Purinergic nucleotide receptor activity IDA 27626375
GO:0001614 Function Purinergic nucleotide receptor activity IEA
GO:0001614 Function Purinergic nucleotide receptor activity NAS 17895406
GO:0001666 Process Response to hypoxia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600843 8534 ENSG00000109991
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56373
Protein name P2X purinoceptor 3 (P2X3) (ATP receptor) (Purinergic receptor)
Protein function Extracellular ATP-activated non-selective cation channel (PubMed:10440098, PubMed:27626375, PubMed:29674445, PubMed:31232692). Plays particularly important role in sensory neurons where its activation is critical for gustatory, nociceptive respo
PDB 5SVJ , 5SVK , 5SVL , 5SVM , 5SVP , 5SVQ , 5SVR , 5SVS , 5SVT , 5YVE , 6AH4 , 6AH5 , 9IK1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00864 P2X_receptor 8 365 Family
Sequence
Sequence length 397
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
Taste transduction
  Elevation of cytosolic Ca2+ levels
Platelet homeostasis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HEART VALVE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERALGESIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17990272
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27355755
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27709491
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis BEFREE 28797095
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30996785
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27355755
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease Polycystic kidney disease BEFREE 15325248, 30417216
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 18543274, 18614336
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 18543274, 23602648
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 21157381, 28536012
★☆☆☆☆
Found in Text Mining only