Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5027
Gene name Gene Name - the full gene name approved by the HGNC.
Purinergic receptor P2X 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
P2RX7
Synonyms (NCBI Gene) Gene synonyms aliases
P2X7
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004356 hsa-miR-186-5p qRT-PCR, Luciferase reporter assay 18682393
MIRT004357 hsa-miR-150-5p qRT-PCR, Luciferase 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602566 8537 ENSG00000089041
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease 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