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Aliases for P2RX7 Gene

Aliases for P2RX7 Gene

  • Purinergic Receptor P2X 7 2 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 7 2 3
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 7 3 5
  • ATP Receptor 3 4
  • P2Z Receptor 3 4
  • P2X7 3 4
  • Purinergic Receptor P2X7 Variant A 3
  • Purinergic Receptor 4
  • P2X7 Receptor 3

External Ids for P2RX7 Gene

Previous GeneCards Identifiers for P2RX7 Gene

  • GC12P120432
  • GC12P121185
  • GC12P121353
  • GC12P119982
  • GC12P120033
  • GC12P121570
  • GC12P118580
  • GC12P121186
  • GC12P121278

Summaries for P2RX7 Gene

Entrez Gene Summary for P2RX7 Gene

  • 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]

GeneCards Summary for P2RX7 Gene

P2RX7 (Purinergic Receptor P2X 7) is a Protein Coding gene. Diseases associated with P2RX7 include extrapulmonary tuberculosis and n syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Immune System. GO annotations related to this gene include protein homodimerization activity and receptor activity. An important paralog of this gene is P2RX1.

UniProtKB/Swiss-Prot for P2RX7 Gene

  • Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

Tocris Summary for P2RX7 Gene

  • P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.

Gene Wiki entry for P2RX7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P2RX7 Gene

Genomics for P2RX7 Gene

Regulatory Elements for P2RX7 Gene

Promoters for P2RX7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P2RX7 on UCSC Golden Path with GeneCards custom track

Genomic Location for P2RX7 Gene

Chromosome:
12
Start:
121,132,819 bp from pter
End:
121,188,032 bp from pter
Size:
55,214 bases
Orientation:
Plus strand

Genomic View for P2RX7 Gene

Genes around P2RX7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RX7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RX7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RX7 Gene

Proteins for P2RX7 Gene

  • Protein details for P2RX7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99572-P2RX7_HUMAN
    Recommended name:
    P2X purinoceptor 7
    Protein Accession:
    Q99572
    Secondary Accessions:
    • A8K2Z0
    • E7EMK6
    • F5H6P2
    • F5H7E8
    • F8W951
    • O14991
    • Q4VKH8
    • Q4VKH9
    • Q4VKI0
    • Q4VKI1
    • Q4VKI2
    • Q4VKI3
    • Q4VKI4
    • Q7Z771
    • Q96EV7

    Protein attributes for P2RX7 Gene

    Size:
    595 amino acids
    Molecular mass:
    68585 Da
    Quaternary structure:
    • Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB. Interacts (via C-terminus) with EMP2 (PubMed:12107182).

    Alternative splice isoforms for P2RX7 Gene

neXtProt entry for P2RX7 Gene

Proteomics data for P2RX7 Gene at MOPED

Post-translational modifications for P2RX7 Gene

  • ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel.
  • Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface.
  • Phosphorylation results in its inactivation.
  • Glycosylation at Asn 187, Asn 202, Asn 213, Asn 241, and Asn 284
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for P2RX7 (P2X7)

No data available for DME Specific Peptides for P2RX7 Gene

Domains & Families for P2RX7 Gene

Gene Families for P2RX7 Gene

Protein Domains for P2RX7 Gene

Graphical View of Domain Structure for InterPro Entry

Q99572

UniProtKB/Swiss-Prot:

P2RX7_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX7: view

Function for P2RX7 Gene

Molecular function for P2RX7 Gene

GENATLAS Biochemistry:
purinoceptor,P2X7
UniProtKB/Swiss-Prot Function:
Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.
genes like me logo Genes that share phenotypes with P2RX7: view

Animal Models for P2RX7 Gene

MGI Knock Outs for P2RX7:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P2RX7 Gene

Localization for P2RX7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX7 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P2RX7 Gene COMPARTMENTS Subcellular localization image for P2RX7 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3
extracellular 3
cytoskeleton 2
mitochondrion 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for P2RX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0016020 membrane IDA 17785580
GO:0032059 bleb ISS --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with P2RX7: view

Pathways & Interactions for P2RX7 Gene

genes like me logo Genes that share pathways with P2RX7: view

Interacting Proteins for P2RX7 Gene

Selected Interacting proteins: Q99572-P2RX7_HUMAN for P2RX7 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for P2RX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0000902 cell morphogenesis IEA --
GO:0001845 phagolysosome assembly IEA --
GO:0001916 positive regulation of T cell mediated cytotoxicity IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
genes like me logo Genes that share ontologies with P2RX7: view

No data available for SIGNOR curated interactions for P2RX7 Gene

Drugs & Compounds for P2RX7 Gene

(36) Drugs for P2RX7 Gene - From: Novoseek, DGIdb, IUPHAR, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ivermectin Approved Pharma activator NAChR/purinergic P2X4 receptor modulator 47
DECAVANADATE Pharma Antagonist 0
KN62 Pharma Antagonist 0
A438079 Pharma Antagonist 0
A740003 Pharma Antagonist 0

(27) Additional Compounds for P2RX7 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Methylthioadenosine triphosphate tetrasodium salt
100020-57-3
alpha,beta-Methyleneadenosine 5'-triphosphate trisodium salt
1343364-54-4
ATP disodium salt
987-65-5
ATPgammaS tetralithium salt
93839-89-5
BzATP triethylammonium salt
112898-15-4
genes like me logo Genes that share compounds with P2RX7: view

Transcripts for P2RX7 Gene

Unigene Clusters for P2RX7 Gene

Purinergic receptor P2X, ligand-gated ion channel, 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - - -
SP10: -
SP11: - - - - - -
SP12: - -
SP13: - - -

Relevant External Links for P2RX7 Gene

GeneLoc Exon Structure for
P2RX7
ECgene alternative splicing isoforms for
P2RX7

Expression for P2RX7 Gene

mRNA expression in normal human tissues for P2RX7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P2RX7 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.7), Brain - Substantia nigra (x4.2), and Brain - Hippocampus (x4.1).

Protein differential expression in normal tissues from HIPED for P2RX7 Gene

This gene is overexpressed in Frontal cortex (33.5), Spinal cord (14.5), and Bone (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for P2RX7 Gene



SOURCE GeneReport for Unigene cluster for P2RX7 Gene Hs.729169

mRNA Expression by UniProt/SwissProt for P2RX7 Gene

Q99572-P2RX7_HUMAN
Tissue specificity: Widely expressed with highest levels in brain and immune tissues.
genes like me logo Genes that share expression patterns with P2RX7: view

Protein tissue co-expression partners for P2RX7 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for P2RX7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia P2RX7 35
  • 85.66 (n)
  • 82.69 (a)
P2RX7 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P2RX7 35
  • 88.22 (n)
  • 86.03 (a)
P2RX7 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx7 35
  • 81.9 (n)
  • 80.84 (a)
P2rx7 16
P2rx7 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P2RX7 35
  • 99.72 (n)
  • 99.83 (a)
P2RX7 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX7 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RX7 35
  • 57.52 (n)
  • 49.17 (a)
P2RX7 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RX7 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490828 35
  • 54.73 (n)
  • 51.05 (a)
African clawed frog
(Xenopus laevis)
Amphibia p2X7 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
p2rx7 35
  • 54.88 (n)
  • 46.5 (a)
p2rx7 36
  • 42 (a)
OneToOne
Species with no ortholog for P2RX7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for P2RX7 Gene

ENSEMBL:
Gene Tree for P2RX7 (if available)
TreeFam:
Gene Tree for P2RX7 (if available)

Paralogs for P2RX7 Gene

Paralogs for P2RX7 Gene

genes like me logo Genes that share paralogs with P2RX7: view

Variants for P2RX7 Gene

Sequence variations from dbSNP and Humsavar for P2RX7 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_019648 -
VAR_019649 -
VAR_019650 -
VAR_019651 -
VAR_019652 -

Structural Variations from Database of Genomic Variants (DGV) for P2RX7 Gene

Variant ID Type Subtype PubMed ID
nsv521928 CNV Gain 19592680
nsv899559 CNV Gain 21882294
dgv529e1 CNV Complex 17122850
nsv832531 CNV Gain 17160897
nsv899563 CNV Gain 21882294
esv2746483 CNV Deletion 23290073
dgv319e199 CNV Deletion 23128226
esv26396 CNV Gain 19812545

Variation tolerance for P2RX7 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.94; 99.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P2RX7 Gene

HapMap Linkage Disequilibrium report
P2RX7
Human Gene Mutation Database (HGMD)
P2RX7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX7 Gene

Disorders for P2RX7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for P2RX7 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extrapulmonary tuberculosis
  • eptb
n syndrome
  • nsx
pulmonary tuberculosis
  • tuberculosis pulmonary
bone cancer
  • bone neoplasm
chronic lymphocytic leukemia
  • cll
- elite association - COSMIC cancer census association via MalaCards
Search P2RX7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for P2RX7

Genetic Association Database (GAD)
P2RX7
Human Genome Epidemiology (HuGE) Navigator
P2RX7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P2RX7
genes like me logo Genes that share disorders with P2RX7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for P2RX7 Gene

Publications for P2RX7 Gene

  1. The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA. (PMID: 9038151) Rassendren F. … Surprenant A. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. Shockwaves increase T-cell proliferation and IL-2 expression through ATP release, P2X7 receptors, and FAK activation. (PMID: 19889958) Yu T. … Liu J. (Am. J. Physiol., Cell Physiol. 2010) 3 23
  3. Functional variants of the P2RX7 gene, aseptic osteolysis, and revision of the total hip arthroplasty: a preliminary study. (PMID: 19891999) Mrazek F. … Petrek M. (Hum. Immunol. 2010) 3 23
  4. P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians. (PMID: 20164546) Sambasivan V. … Hasan Q. (Dis. Markers 2010) 3 23
  5. Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach. (PMID: 18543274) Hejjas K. … Nemoda Z. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23

Products for P2RX7 Gene

Sources for P2RX7 Gene

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