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

Gene ID: 5027, updated on 7-Sep-2020

Summary

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
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]
Expression
Broad expression in brain (RPKM 6.8), skin (RPKM 4.9) and 23 other tissues See more
Orthologs

Genomic context

See P2RX7 in Genome Data Viewer
Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121132819..121188032)
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 LOC105370030 Neighboring gene uncharacterized LOC105370032 Neighboring gene Sharpr-MPRA regulatory region 4268 Neighboring gene purinergic receptor P2X 4 Neighboring gene calcium/calmodulin dependent protein kinase kinase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20089

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IC
Inferred by Curator
more info
PubMed 
extracellularly ATP-gated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellularly ATP-gated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
lipopolysaccharide binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
purinergic nucleotide receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
signaling 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
 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
calcium-mediated signaling using extracellular calcium source TAS
Traceable Author Statement
more info
PubMed 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface receptor signaling pathway involved in cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
cellular response to ATP TAS
Traceable Author Statement
more info
PubMed 
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
 
defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
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 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
 
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
 
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 cytokine secretion IEA
Inferred from Electronic Annotation
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 beta production 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 catabolic process 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 ischemia NAS
Non-traceable Author Statement
more info
PubMed 
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
 
vesicle budding from membrane 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
PubMed 
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
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
purnergic receptor P2X 7

NCBI Reference Sequences (RefSeq)

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
    5002..60158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002562.6NP_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
    ENSP00000330696.6, ENST00000328963.10
    Conserved Domains (1) summary
    pfam00864
    Location:11397
    P2X_receptor; ATP P2X receptor

RNA

  1. NR_033948.2 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_033949.2 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_033950.2 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_033951.2 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_033952.2 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_033953.2 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_033954.2 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
  8. NR_033955.2 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_033956.2 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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    121132819..121188032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538419.3XP_011536721.1  P2X purinoceptor 7 isoform X1

    Conserved Domains (1) summary
    pfam00864
    Location:1293
    P2X_receptor; ATP P2X receptor
  2. XM_017019364.2XP_016874853.1  P2X purinoceptor 7 isoform X2

  3. XM_017019367.2XP_016874856.1  P2X purinoceptor 7 isoform X3

  4. XM_017019366.2XP_016874855.1  P2X purinoceptor 7 isoform X3

  5. XM_017019365.2XP_016874854.1  P2X purinoceptor 7 isoform X2

  6. XM_011538420.3XP_011536722.1  P2X purinoceptor 7 isoform X4

    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

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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