Gene Gene information from NCBI Gene database.
Entrez ID 5027
Gene name Purinergic receptor P2X 7
Gene symbol P2RX7
Synonyms (NCBI Gene)
P2X7
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 and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules.
miRNA miRNA information provided by mirtarbase database.
315
miRTarBase ID miRNA Experiments Reference
MIRT004356 hsa-miR-186-5p qRT-PCRLuciferase reporter assay 18682393
MIRT004357 hsa-miR-150-5p qRT-PCRLuciferase reporter assay 18682393
MIRT004357 hsa-miR-150-5p Luciferase reporter assay 18682393
MIRT004356 hsa-miR-186-5p Luciferase reporter assay 18682393
MIRT677140 hsa-miR-125a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
156
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001530 Function Lipopolysaccharide binding IEA
GO:0001530 Function Lipopolysaccharide binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602566 8537 ENSG00000089041
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99572
Protein name P2X purinoceptor 7 (P2X7) (ATP receptor) (P2Z receptor) (Purinergic receptor)
Protein function ATP-gated nonselective transmembrane cation channel that requires high millimolar concentrations of ATP for activation (PubMed:17483156, PubMed:25281740, PubMed:9038151). Upon ATP binding, it rapidly opens to allow the influx of small cations Na
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00864 P2X_receptor 11 395 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in brain and immune tissues. {ECO:0000269|PubMed:15896293}.; TISSUE SPECIFICITY: [Isoform B]: Predominant form in many tissues. {ECO:0000269|PubMed:15896293}.
Sequence
Sequence length 595
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
NOD-like receptor signaling pathway
  Elevation of cytosolic Ca2+ levels
Platelet homeostasis
The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs35933842 RCV005898565
Adrenocortical carcinoma, hereditary Likely benign rs35933842 RCV005898568
Clear cell carcinoma of kidney Likely benign rs35933842 RCV005898569
Hepatocellular carcinoma Likely benign rs35933842 RCV005898566
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abidi X linked mental retardation syndrome Associate 28737528
Adenocarcinoma of Lung Associate 33042257
Aggressive Periodontitis Associate 31292966, 31319038
Alzheimer Disease Associate 25456845
Anemia Associate 35021220
Anemia Aplastic Associate 17488689
Anxiety Associate 37173368
Anxiety Disorders Associate 37173368
Apraxias Associate 38255938
Arthritis Gouty Associate 28797095