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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Orphanet
★★☆☆☆
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
Acute pancreatitis Pancreatitis BEFREE 22415665, 31524270
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17482244
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31401785
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 23303206, 23308196, 28628761
★☆☆☆☆
Found in Text Mining only
Agoraphobia Agoraphobia BEFREE 17197037
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25456845 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28120269, 29934546
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 17990272, 20534165, 23583883, 28090150, 28265522, 28871219, 31376190, 31562223
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 35021220 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 17488689 Associate
★☆☆☆☆
Found in Text Mining only