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

Gene ID: 5027, updated on 10-Dec-2024

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; AllianceGenome:HGNC:8537
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
NEW
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Try the new Transcript table

Genomic context

See P2RX7 in Genome Data Viewer
Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121132876..121188032)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (121123629..121178800)
RS_2024_09 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 LOC105370031 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene uncharacterized LOC105370030 Neighboring gene uncharacterized LOC105370032 Neighboring gene Sharpr-MPRA regulatory region 4268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7157 Neighboring gene NANOG hESC enhancer GRCh37_chr12:121593595-121594096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121627731-121628231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121661200-121661700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7159 Neighboring gene purinergic receptor P2X 4 Neighboring gene Sharpr-MPRA regulatory region 10951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121671545-121672172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4971 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121683587-121683800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7161 Neighboring gene calcium/calmodulin dependent protein kinase kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121693396-121693896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121720271-121720878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121720879-121721486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4972

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

EBI GWAS Catalog

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

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

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 monoatomic cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables extracellularly ATP-gated monoatomic 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 MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in NAD transport IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in calcium-mediated signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell surface receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to ATP TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to dsRNA IEA
Inferred from Electronic Annotation
more info
 
involved_in ceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
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 gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane depolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
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 phagolysosome assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid transfer to membrane IEA
Inferred from Electronic Annotation
more info
 
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 MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of NLRP3 inflammasome complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
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 gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glutamate secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-1 alpha production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of macrophage cytokine production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of monoatomic ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of prostaglandin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in prostaglandin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in purinergic nucleotide receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in purinergic nucleotide receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in release of sequestered calcium ion into cytosol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ATP IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ischemia NAS
Non-traceable Author Statement
more info
PubMed 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in vesicle budding from membrane IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in bleb ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IC
Inferred by Curator
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
 
located_in 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
purnergic receptor P2X 7

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    A8K2Z0, E7EMK6, F5H6P2, F5H7E8, F8W951, O14991, Q4VKH8, Q4VKH9, Q4VKI0, Q4VKI1, Q4VKI2, Q4VKI3, Q4VKI4, Q7Z771, Q96EV7, Q99572
    UniProtKB/TrEMBL
    C6KE32
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    121132876..121188032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428912.1XP_047284868.1  P2X purinoceptor 7 isoform X1

    UniProtKB/TrEMBL
    A0A7G3W903
  2. XM_011538419.4XP_011536721.1  P2X purinoceptor 7 isoform X2

    UniProtKB/TrEMBL
    C6KE32
    Conserved Domains (1) summary
    pfam00864
    Location:1293
    P2X_receptor; ATP P2X receptor
  3. XM_017019367.3XP_016874856.1  P2X purinoceptor 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    121123629..121178800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372140.1XP_054228115.1  P2X purinoceptor 7 isoform X1

    UniProtKB/TrEMBL
    A0A7G3W903
  2. XM_054372141.1XP_054228116.1  P2X purinoceptor 7 isoform X2

    UniProtKB/TrEMBL
    C6KE32
  3. XM_054372142.1XP_054228117.1  P2X purinoceptor 7 isoform X3

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.