P2RX7 Gene (Protein Coding)

Purinergic Receptor P2X 7

GC12P123032
GIFtS:
46
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 c... See more...

Aliases for P2RX7 Gene

Aliases for P2RX7 Gene

  • Purinergic Receptor P2X 7 2 3 5
  • P2X7 2 3 4
  • P2X Purinoceptor 7 3 4
  • ATP Receptor 3 4
  • P2Z Receptor 3 4
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 7 2
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 7 3
  • Purinergic Receptor P2X7 Variant A 3
  • Purnergic Receptor P2X 7 3
  • Purinergic Receptor 4
  • P2X7 Receptor 3
  • MGC20089 2
  • P2RX7 5

External Ids for P2RX7 Gene

Previous GeneCards Identifiers for P2RX7 Gene

  • GC12P120432
  • GC12P121185
  • GC12P121353
  • GC12P119982
  • GC12P120033
  • GC12P121570
  • GC12P118580
  • GC12P121186
  • GC12P121278
  • GC12P122317
  • GC12P122396
  • GC12P122433
  • GC12P122630
  • GC12P121334
  • GC12P121398
  • GC12P121463
  • GC12P121522
  • GC12P122012
  • GC12P122098
  • GC12P122173
  • GC12P122253
  • GC12P122829

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 Tularemia and Extrapulmonary Tuberculosis. Among its related pathways are Toll-Like receptor Signaling Pathways and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is P2RX4.

UniProtKB/Swiss-Prot Summary 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. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).

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

Additional gene information for P2RX7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for P2RX7 Gene

Genomics for P2RX7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for P2RX7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P2RX7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P2RX7

Top Transcription factor binding sites by QIAGEN in the P2RX7 gene promoter:
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • NF-1
  • NF-kappaB1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • YY1

Genomic Locations for P2RX7 Gene

Latest Assembly
chr12:121,132,819-121,188,032
(GRCh38/hg38)
Size:
55,214 bases
Orientation:
Plus strand

Previous Assembly
chr12:121,570,679-121,625,835
(GRCh37/hg19 by Entrez Gene)
Size:
55,157 bases
Orientation:
Plus strand

chr12:121,570,622-121,623,876
(GRCh37/hg19 by Ensembl)
Size:
53,255 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 Structure • Gene Density

RefSeq DNA sequence for P2RX7 Gene

Proteins for P2RX7 Gene

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  • 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).
    Miscellaneous:
    • [Isoform B]: Predominant form in many tissues.
    • [Isoform H]: Non-functional channel.

    Alternative splice isoforms for P2RX7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P2RX7 Gene

Protein Expression for P2RX7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for P2RX7 Gene

  • Phosphorylation results in its inactivation.
  • 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.
  • Glycosylation at Asn187, Asn202, Asn213, Asn241, and Asn284
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • P2RX7_HUMAN (1591)

Other Protein References for P2RX7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for P2RX7 Gene

Domains & Families for P2RX7 Gene

Gene Families for P2RX7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for P2RX7 Gene

InterPro:
Blocks:
  • ATP P2X receptor
  • P2X7 purinoceptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for P2RX7 Gene

GenScript: Design optimal peptide antigens:
  • P2X purinoceptor (C6KE32_HUMAN)
  • P2X purinoceptor (E7EX72_HUMAN)
  • P2X purinoceptor (F5H7E8_HUMAN)
  • Purinergic receptor (P2RX7_HUMAN)
  • P2X purinoceptor (Q0IJ51_HUMAN)

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

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  6. Cell Lines for research

Molecular function for P2RX7 Gene

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. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).
GENATLAS Biochemistry:
purinoceptor,P2X7

Phenotypes From GWAS Catalog for P2RX7 Gene

Gene Ontology (GO) - Molecular Function for P2RX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding ISS --
GO:0001614 purinergic nucleotide receptor activity IDA 9038151
GO:0004931 extracellularly ATP-gated cation channel activity IBA,IDA 9038151
GO:0005102 signaling receptor binding ISS 17785580
GO:0005216 ion channel activity IEA --
genes like me logo Genes that share ontologies with P2RX7: view
genes like me logo Genes that share phenotypes with P2RX7: view

Animal Models for P2RX7 Gene

MGI Knock Outs for P2RX7:
  • P2rx7 P2rx7<tm1a(EUCOMM)Wtsi>
  • P2rx7 P2rx7<tm1.1(P2RX7)Jde>
  • P2rx7 P2rx7<tm2.1(P2RX7*)Jde>
  • P2rx7 P2rx7<tm1Ipch>
  • P2rx7 P2rx7<tm1Lex>
  • P2rx7 P2rx7<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for P2RX7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX7

Clone products for research

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P2RX7 gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 3
mitochondrion 3
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for P2RX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005639 integral component of nuclear inner membrane IBA 21873635
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane ISS,TAS 17299767
GO:0005887 integral component of plasma membrane IC 9038151
GO:0016020 membrane IDA 17785580
genes like me logo Genes that share ontologies with P2RX7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P2RX7 Gene

Pathways & Interactions for P2RX7 Gene

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

Pathways by source for P2RX7 Gene

1 Qiagen pathway for P2RX7 Gene
  • Intracellular Calcium Signaling
2 Cell Signaling Technology pathways for P2RX7 Gene

SIGNOR curated interactions for P2RX7 Gene

Activates:

Gene Ontology (GO) - Biological Process for P2RX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport ISS 17785580
GO:0002931 response to ischemia NAS 12849743
GO:0006811 ion transport IEA --
GO:0007166 cell surface receptor signaling pathway ISS --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with P2RX7: view

Drugs & Compounds for P2RX7 Gene

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(63) Drugs for P2RX7 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
brilliant blue G Approved Pharma Antagonist 0
Promethazine Approved, Investigational Pharma Target, inhibitor 492
Fentanyl Approved, Illicit, Investigational, Vet_approved Pharma 1308
Ivermectin Approved, Investigational, Vet_approved Pharma activator NAChR/purinergic P2X4 receptor modulator 159
DECAVANADATE Pharma Antagonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ATPgammaS tetralithium salt
93839-89-5

(5) Tocris Compounds for P2RX7 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
ATPgammaS tetralithium salt P2 agonist; ATP (Cat. No. 3245) analog 93839-89-5
NF 157 Selective P2Y11/P2X1 antagonist 104869-26-3
PPADS tetrasodium salt P2 purinergic antagonist 192575-19-2
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(28) ApexBio Compounds for P2RX7 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt 100020-57-3
A 438079 P2X7 receptor antagonist,competitive and selective 899507-36-9
A 438079 hydrochloride P2X7 receptor antagonist,competitive and selective 899431-18-6
A 804598 P2X7 antagonist,potent and selective 1125758-85-1
A 839977 P2X7 antagonist,potent and selective 870061-27-1
A-740003 P2X7 receptor antagonist 861393-28-4
ATPγS tetralithium salt 93839-89-5
AZ 10606120 dihydrochloride Potent P2X7 receptor antagonist 607378-18-7
AZ 11645373 Human P2X7 antagonist,potent and selective 227088-94-0
BzATP triethylammonium salt 112898-15-4
GW791343 HCl P2X7 allosteric modulator 309712-55-8
iso-PPADS tetrasodium salt P2 purinoceptors antagonist, specific 207572-67-6
KN-62 CaM kinase II inhibitor 127191-97-3
KN-92 hydrochloride Inactive derivative of KN-93,control compound 1431698-47-3
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
MRS 2219 14141-47-0
NF 023 104869-31-0
NF 110 111150-22-2
NF 157 104869-26-3
NF 279 202983-32-2
NF 449 purinergic receptor antagonist 627034-85-9
PPADS tetrasodium salt 192575-19-2
PPNDS 1021868-77-8
Ro 0437626 134362-79-1
Ro 51 1050670-85-3
RO-3 1026582-88-6
Suramin hexasodium salt 129-46-4
TNP-ATP triethylammonium salt 61368-63-6
genes like me logo Genes that share compounds with P2RX7: view

Drug products for research

Transcripts for P2RX7 Gene

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mRNA/cDNA for P2RX7 Gene

2 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX7

Clone products for research

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

Expression for P2RX7 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for P2RX7 Gene

mRNA expression in normal human tissues for P2RX7 Gene
mRNA expression by BioGPS for P2RX7 GenemRNA expression by GTEx 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, MaxQB, and MOPED for P2RX7 Gene



Protein tissue co-expression partners for P2RX7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for P2RX7

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.

Evidence on tissue expression from TISSUES for P2RX7 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Skin(4.5)
  • Liver(4.4)
  • Adrenal gland(3.2)
  • Kidney(2.5)
  • Heart(2.4)
  • Muscle(2.4)
  • Spleen(2.4)
  • Lymph node(2.3)
  • Intestine(2.2)
  • Lung(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with P2RX7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX7 Gene

Orthologs for P2RX7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia P2RX7 30 31
  • 99.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia P2RX7 30 31
  • 88.22 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia P2RX7 30 31
  • 85.66 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia P2rx7 30 17 31
  • 81.9 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 72 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia P2RX7 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves P2RX7 30 31
  • 57.52 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia P2RX7 31
  • 56 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490828 30
  • 54.73 (n)
African clawed frog
(Xenopus laevis)
 Amphibia p2X7 30
Zebrafish
(Danio rerio)
 Actinopterygii p2rx7 30 31
  • 54.88 (n)
 OneToOne
-- 30
Species where no ortholog for P2RX7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for P2RX7: view image

Paralogs for P2RX7 Gene

Paralogs for P2RX7 Gene

(8) SIMAP similar genes for P2RX7 Gene using alignment to 8 proteins:

  • P2RX7_HUMAN
  • C6KE32_HUMAN
  • F5H237_HUMAN
  • F5H2X6_HUMAN
  • F5H8E7_HUMAN
  • J3KN30_HUMAN
  • K4K1I8_HUMAN
  • Q0IJ51_HUMAN
genes like me logo Genes that share paralogs with P2RX7: view

Variants for P2RX7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P2RX7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs112275589 Benign: not provided 121,154,893(+) T/C
NM_002562.6(P2RX7):c.234T>C (p.Asn78=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs145127272 Likely Benign: not provided 121,154,884(+) C/T
NM_002562.6(P2RX7):c.225C>T (p.Ile75=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs146725537 Likely Benign: not provided. - 121,167,605(+) T/Cp.Tyr288His
NM_002562.6(P2RX7):c.862T>C (p.Tyr288His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs16950860 Benign: not provided. - 121,167,551(+) C/Tp.Arg270Cys
NM_002562.6(P2RX7):c.808C>T (p.Arg270Cys) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs201778812 Benign: not provided 121,162,416(+) C/T
NM_002562.6(P2RX7):c.437-8C>T 		NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for P2RX7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv307e214 CNV gain 21293372
dgv319e199 CNV deletion 23128226
esv26396 CNV gain 19812545
esv2746483 CNV deletion 23290073
esv2759917 CNV loss 17122850
esv3630934 CNV loss 21293372
esv3630940 CNV loss 21293372
esv3630941 CNV loss 21293372
esv3630942 CNV loss 21293372
esv3630943 CNV loss 21293372
nsv1054878 CNV gain 25217958
nsv1127298 CNV deletion 24896259
nsv521928 CNV gain 19592680
nsv560454 CNV loss 21841781
nsv560455 CNV gain 21841781
nsv832531 CNV gain 17160897

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)

Additional Variant Information for P2RX7 Gene

Human Gene Mutation Database (HGMD)
P2RX7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P2RX7

SNP Genotyping and Copy Number Assays for research

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

Disorders for P2RX7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for P2RX7 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
tularemia
  • deerfly fever
extrapulmonary tuberculosis
  • eptb
leukemia, chronic lymphocytic
  • cll
pulmonary tuberculosis
  • tuberculosis, pulmonary
postherpetic neuralgia
- elite association - COSMIC cancer census association via MalaCards
Search P2RX7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for P2RX7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (The Journal of biological chemistry 1997) 2 3 4 23
  2. P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians. (PMID: 20164546) Sambasivan V … Hasan Q (Disease markers 2010) 3 23 41
  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 (Human immunology 2010) 3 23 41
  4. Genetic susceptibility to different clinical forms of tuberculosis in the Peruvian population. (PMID: 20188863) Taype CA … Shaw MA (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 23 41
  5. Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts. (PMID: 18971257) Gonnord P … Kanellopoulos JM (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 23

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