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

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: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (121132876..121188032)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (121123629..121178800)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (121570679..121625835)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The impact of the P2X7 receptor on the tumor immune microenvironment and its effects on tumor progression.
Title: The impact of the P2X7 receptor on the tumor immune microenvironment and its effects on tumor progression.
P2X7 Receptor in Dendritic Cells and Macrophages: Implications in Antigen Presentation and T Lymphocyte Activation.
Title: P2X7 Receptor in Dendritic Cells and Macrophages: Implications in Antigen Presentation and T Lymphocyte Activation.
Sex-dependent expression levels of VAV1 and P2X7 in PBMC of multiple sclerosis patients.
Title: Sex-dependent expression levels of VAV1 and P2X7 in PBMC of multiple sclerosis patients.
P2X7R influences tau aggregate burden in human tauopathies and shows distinct signalling in microglia and astrocytes.
Title: P2X(7)R influences tau aggregate burden in human tauopathies and shows distinct signalling in microglia and astrocytes.
P2X7 Receptor-Induced Human Mast Cell Degranulation Is Enhanced by Interleukin 33.
Title: P2X7 Receptor-Induced Human Mast Cell Degranulation Is Enhanced by Interleukin 33.
Embers of the Past: Early Childhood Traumas Interact with Variation in P2RX7 Gene Implicated in Neuroinflammation on Markers of Current Suicide Risk.
Title: Embers of the Past: Early Childhood Traumas Interact with Variation in P2RX7 Gene Implicated in Neuroinflammation on Markers of Current Suicide Risk.
The P2X7 receptor in mucosal adaptive immunity.
Title: The P2X7 receptor in mucosal adaptive immunity.
Characterization of Common Genetic Variants in P2RX7 and Their Contribution to Chronic Pain Conditions.
Title: Characterization of Common Genetic Variants in P2RX7 and Their Contribution to Chronic Pain Conditions.
P2X7 receptor promotes migration and invasion of non-small cell lung cancer A549 cells through the PI3K/Akt pathways.
Title: P2X7 receptor promotes migration and invasion of non-small cell lung cancer A549 cells through the PI3K/Akt pathways.
Purinergic P2X7 receptor expression increases in leukocytes from intra-abdominal septic patients.
Title: Purinergic P2X7 receptor expression increases in leukocytes from intra-abdominal septic patients.

Submit: New GeneRIF Correction See all GeneRIFs (491)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494634

P2RX7_4136 (e-PCR)
- UniSTS:462914

PG7S13b (e-PCR)
- UniSTS:465995

RH71408 (e-PCR)
- UniSTS:49995

PG7S3UT01 (e-PCR)
- UniSTS:465996

PG7S3UT0304 (e-PCR)
- UniSTS:465997

PG7S3UT0506 (e-PCR)
- UniSTS:465998

PG7S3UT1009 (e-PCR)
- UniSTS:465999

D1S1423 (e-PCR)
- UniSTS:149619

G64572 (e-PCR)
- UniSTS:163710

WI-13224 (e-PCR)
- UniSTS:29668

SHGC-57922 (e-PCR)
- UniSTS:46065

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 using extracellular calcium source	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 cellular response to extracellular stimulus	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 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 phosphorylation	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

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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)

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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

NG_011471.2 RefSeqGene

Range

5002..60158

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002562.6 → NP_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:11 → 397

P2X_receptor; ATP P2X receptor

RNA

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
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
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
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
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
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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

121132876..121188032

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428912.1 → XP_047284868.1 P2X purinoceptor 7 isoform X1
XM_011538419.4 → XP_011536721.1 P2X purinoceptor 7 isoform X2

UniProtKB/TrEMBL

C6KE32

Conserved Domains (1) summary

pfam00864
Location:1 → 293

P2X_receptor; ATP P2X receptor
XM_017019367.3 → XP_016874856.1 P2X purinoceptor 7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

121123629..121178800

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372140.1 → XP_054228115.1 P2X purinoceptor 7 isoform X1
XM_054372141.1 → XP_054228116.1 P2X purinoceptor 7 isoform X2
XM_054372142.1 → XP_054228117.1 P2X purinoceptor 7 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177427.2: Suppressed sequence

Description

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