Gene Gene information from NCBI Gene database.
Entrez ID 5025
Gene name Purinergic receptor P2X 4
Gene symbol P2RX4
Synonyms (NCBI Gene)
P2X4P2X4R
Chromosome 12
Chromosome location 12q24.31
Summary The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relat
miRNA miRNA information provided by mirtarbase database.
122
miRTarBase ID miRNA Experiments Reference
MIRT017849 hsa-miR-335-5p Microarray 18185580
MIRT1208885 hsa-miR-1184 CLIP-seq
MIRT1208886 hsa-miR-1205 CLIP-seq
MIRT1208887 hsa-miR-1231 CLIP-seq
MIRT1208888 hsa-miR-1909 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Repression 11299224
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
89
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001614 Function Purinergic nucleotide receptor activity IDA 9016352
GO:0001614 Function Purinergic nucleotide receptor activity IEA
GO:0001614 Function Purinergic nucleotide receptor activity IMP 11606481
GO:0001894 Process Tissue homeostasis NAS 17264311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600846 8535 ENSG00000135124
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99571
Protein name P2X purinoceptor 4 (P2X4) (ATP receptor) (Purinergic receptor)
Protein function ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:9016352). CTP, but not GTP or UTP, functions as a weak affinity agonist for P2RX4 (By similarity). Activated by extracellularly released ATP,
PDB 9BQH , 9BQI , 9C48
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00864 P2X_receptor 13 379 Family
Sequence
Sequence length 388
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
  Elevation of cytosolic Ca2+ levels
Platelet homeostasis
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 31401785
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 23303206
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 19562525
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17990272, 20084016, 23771221
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 17197037
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27355755
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis BEFREE 28797095
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 31401785
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 27867013, 30684150
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27355755
★☆☆☆☆
Found in Text Mining only