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    P2RX7 purinergic receptor P2X 7 [ Homo sapiens (human) ]

    Gene ID: 5027, updated on 6-Dec-2016
    Official Symbol
    P2RX7provided by HGNC
    Official Full Name
    purinergic receptor P2X 7provided by HGNC
    Primary source
    HGNC:HGNC:8537
    See related
    Ensembl:ENSG00000089041 MIM:602566; Vega:OTTHUMG00000169153
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P2X7
    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. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
    Orthologs
    Location:
    12q24.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (121132819..121189478)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121570622..121624439)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370031 Neighboring gene uncharacterized LOC105370030 Neighboring gene uncharacterized LOC105370032 Neighboring gene purinergic receptor P2X 4 Neighboring gene calcium/calmodulin dependent protein kinase kinase 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Infection of CD4+ T cells with HIV-1 in the presence of inhibitors of P2X receptors greatly inhibits HIV-1 infection via both cell-free and cell-to-cell contact in a dose-dependent manner, suggesting P2X receptors interact with gp120/gp41 in viral entry PubMed
    env Interaction of the HIV-1 gp120 with macrophages triggers an increase in ATP release that stimulates purinergic receptor P2X(1), P2X(7), and P2Y(1) proteins and facilitates HIV entry and subsequent stages of viral replication PubMed
    Envelope transmembrane glycoprotein gp41 env Infection of CD4+ T cells with HIV-1 in the presence of inhibitors of P2X receptors greatly inhibits HIV-1 infection via both cell-free and cell-to-cell contact in a dose-dependent manner, suggesting P2X receptors interact with gp120/gp41 in viral entry PubMed
    Tat tat HIV-1 Tat-induced release of CCL2 from human astrocytes is regulated by P2RX7, leading to direct and indirect neuronal death PubMed

    Go to the HIV-1, Human Interaction Database

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
      Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammasomes, organism-specific biosystem (from REACTOME)
      Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
      Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
      The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC20089

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IC
    Inferred by Curator
    more info
    PubMed 
    extracellular ATP-gated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular ATP-gated cation channel activity TAS
    Traceable Author Statement
    more info
     
    lipopolysaccharide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    purinergic nucleotide receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    NAD transport IEA
    Inferred from Electronic Annotation
    more info
     
    T cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    activation of MAPK activity IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    bleb assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bleb assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to dsRNA IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    ceramide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    collagen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cytolysis IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    membrane budding IEA
    Inferred from Electronic Annotation
    more info
     
    membrane depolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane protein ectodomain proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell volume IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phagolysosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid scrambling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid transfer to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
     
    pore complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of bleb assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-1 alpha secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-1 beta secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of lymphocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of prostaglandin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    protein oligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    purinergic nucleotide receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of killing of cells of other organism NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    bleb ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    P2X purinoceptor 7
    Names
    ATP receptor
    P2X7 receptor
    P2Z receptor
    purinergic receptor P2X, ligand gated ion channel, 7
    purinergic receptor P2X7 variant A

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011471.2 RefSeqGene

      Range
      4954..58677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002562.5NP_002553.3  P2X purinoceptor 7

      See identical proteins and their annotated locations for NP_002553.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AC069209, AK290405, AY847300, DA302256, KF459557
      Consensus CDS
      CCDS9213.1
      UniProtKB/Swiss-Prot
      Q99572
      Related
      ENSP00000330696, OTTHUMP00000240217, ENST00000328963, OTTHUMT00000402532
      Conserved Domains (1) summary
      pfam00864
      Location:11397
      P2X_receptor; ATP P2X receptor

    RNA

    1. NR_033948.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' coding region, which includes an in-frame stop codon, and has an additional segment in the 3' coding region, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, AY847303, BC007679, BC121158, DA274887, DA302256, KF459557
    2. NR_033949.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon in the 5' coding region, which includes an in-frame stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, AY847304, BC007679, BC121158, DA274887, DA302256, KF459557
    3. NR_033950.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has two additional segments in the middle and 3' coding regions respectively, and also lacks an exon in the middle region, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, BC011913, BC121158, DA302256
    4. NR_033951.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an additional segment in the 3' coding region, which includes an in-frame stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AB209709, AC069209, BC011913, BC121158, DA302256
    5. NR_033952.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the middle coding region, which results in frame-shift and an internal stop codon, and also has an additional segment in the 3' coding region, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, AY847299, BC007679, BC121158, DA302256, KF459557
    6. NR_033953.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an exon in the 5' coding region, which results in frame-shift and an internal stop codon, and also has an additional segment in the 3' coding region, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, AK090866, BC011913, DA302256
    7. NR_033954.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an exon in the middle coding region, which results in frame-shift and an internal stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, BC007679, BC011913, DA302256
      Related
      ENST00000261826, OTTHUMT00000402536
    8. NR_033955.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an exon in the middle coding region, which results in frame-shift and an internal stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, BC121158, DA302256, DQ399293, KF459557
    9. NR_033956.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two exons in the middle coding region, which results in frame-shift and an internal stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, so most likely does not make a protein.
      Source sequence(s)
      AC069209, AY847302, BC121158, DA302256, KF459557

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      121132819..121189478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538419.2XP_011536721.1  

      Conserved Domains (1) summary
      pfam00864
      Location:1293
      P2X_receptor; ATP P2X receptor
    2. XM_017019364.1XP_016874853.1  

    3. XM_017019367.1XP_016874856.1  

    4. XM_017019366.1XP_016874855.1  

    5. XM_017019365.1XP_016874854.1  

    6. XM_011538420.2XP_011536722.1  

      See identical proteins and their annotated locations for XP_011536722.1

      UniProtKB/Swiss-Prot
      Q99572
      Conserved Domains (1) summary
      cl02993
      Location:2108
      P2X_receptor; ATP P2X receptor

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      121539497..121593180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177427.2: Suppressed sequence

      Description
      NM_177427.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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