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

Gene ID: 5027, updated on 3-Oct-2021

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
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Genomic context

See P2RX7 in Genome Data Viewer
Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121132819..121188032)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121570679..121625835)

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
enables ATP binding IC
Inferred by Curator
more info
PubMed 
enables extracellularly ATP-gated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables extracellularly ATP-gated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables lipopolysaccharide binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables purinergic nucleotide receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bleb assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in bleb assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
involved_in calcium-mediated signaling using extracellular calcium source TAS
Traceable Author Statement
more info
PubMed 
involved_in cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell surface receptor signaling pathway involved in cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to ATP TAS
Traceable Author Statement
more info
PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in extrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane depolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell volume IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in plasma membrane phospholipid scrambling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pore complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of bleb assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in purinergic nucleotide receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of killing of cells of other organism NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in response to ATP IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to ischemia NAS
Non-traceable Author Statement
more info
PubMed 
involved_in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in bleb ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in integral component of nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in postsynapse 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)

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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 109.20210514

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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