P2RX7 Gene (Protein Coding)

Purinergic Receptor P2X 7

GC12P122433
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
  • P2X Purinoceptor 7 3 4
  • ATP Receptor 3 4
  • P2Z Receptor 3 4
  • P2X7 3 4
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 7 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 7 2
  • Purinergic Receptor P2X7 Variant A 3
  • Purnergic Receptor P2X 7 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
  • GC12P122317
  • GC12P122396
  • GC12P121334
  • GC12P121398
  • GC12P121463
  • GC12P121522
  • GC12P122012
  • GC12P122098
  • GC12P122173
  • GC12P122253

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 Tularemia. Among its related pathways are NOD-like receptor signaling pathway and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. 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 for P2RX7 Gene

Promoters and enhancers for P2RX7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J121132 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 762.7 +0.8 782 4.4 NR2F1 L3MBTL2 MAX DACH1 MNT ZKSCAN8 SP1 BACH1 MLLT1 ZNF687 P2RX7 P2RX4 CAMKK2 piR-32285-021
GH12J121196 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 19.3 +64.4 64391 1.5 L3MBTL2 MAX IKZF1 ETV6 EED GABPA BCOR CREM DPF2 ZNF592 P2RX4 P2RX7 CAMKK2 ACADS ENSG00000256569 OASL ENSG00000286248 piR-50444-089 LOC105370032 lnc-CAMKK2-6
GH12J121143 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 13.8 +11.6 11641 2.8 ZNF24 SMARCE1 MYC ELF1 RELA L3MBTL2 CEBPB ZKSCAN8 ZNF148 BACH1 P2RX4 P2RX7 ANAPC5 GCN1 SETD1B HNF1A-AS1 ENSG00000272849 CAMKK2 OASL piR-32285-021
GH12J121059 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 12.9 -72.4 -72412 1.8 ZBTB40 CTCF RAD21 ZKSCAN8 NKRF SP1 POLR2A MTA1 KAT8 IKZF1 OASL2P OASL P2RX4 PSMD9 P2RX7 RPLP0 C12orf43 PXN GCN1 SETD1B
GH12J121212 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 +83.4 83392 6.7 FOXA1 ZNF121 ELF3 SP1 MAFK MLLT1 ZSCAN21 ZNF687 HNF1A MTA1 P2RX4 P2RX7 ACADS ENSG00000256569 lnc-CAMKK2-6 NONHSAG012541.2 lnc-CAMKK2-1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for P2RX7 Gene
chr12:121,132,819-121,188,032
(GRCh38/hg38)
Size:
55,214 bases
Orientation:
Plus strand
chr12:121,570,622-121,624,354
(GRCh37/hg19)
Size:
53,733 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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    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:

Antibody Products

  • Boster Bio Antibodies for P2RX7
  • Santa Cruz Biotechnology (SCBT) Antibodies for P2RX7

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

Blocks:
InterPro:
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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,IBA 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<tm2.1(P2RX7*)Jde>
  • P2rx7 P2rx7<tm1.1(P2RX7)Jde>
  • P2rx7 P2rx7<tm1Lex>
  • P2rx7 P2rx7<tm1Ipch>

Animal Model Products

  • Taconic Biosciences Mouse Models for P2RX7

CRISPR Products

Clone Products

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
extracellular 3
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

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:0005911 cell-cell junction 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

Pathways by source for P2RX7 Gene

1 R&D Systems pathway 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: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

Drugs & Compounds for P2RX7 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ivermectin Approved, Investigational, Vet_approved Pharma activator NAChR/purinergic P2X4 receptor modulator 91
DECAVANADATE Pharma Antagonist, Activator 0
KN62 Pharma Antagonist 0
2-Methylthioadenosine triphosphate tetrasodium salt Pharma P2 purinergic agonist 0
NF 157 Pharma Selective P2Y11/P2X1 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

(30) 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 dihydrochloride P2X7 allosteric modulator 1019779-04-4
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
Purotoxin 1 1396322-38-5
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

Transcripts for P2RX7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for P2RX7 Gene

(2) REFSEQ mRNAs :
(25) Additional mRNA sequences :
(72) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of P2RX7 Gene:

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(4.4)
  • Liver(4.2)
  • Adrenal gland(2.8)
  • Kidney(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with P2RX7: view

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 33 32
  • 99.72 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia P2RX7 33 32
  • 88.22 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia P2RX7 33 32
  • 85.66 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia P2rx7 17 33 32
  • 81.9 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 72 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia P2RX7 33
  • 68 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves P2RX7 33 32
  • 57.52 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia P2RX7 33
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100490828 32
  • 54.73 (n)
African clawed frog
(Xenopus laevis)
 Amphibia p2X7 32
zebrafish
(Danio rerio)
 Actinopterygii p2rx7 33 32
  • 54.88 (n)
 OneToOne
-- 32
Species where no ortholog for P2RX7 was found in the sources mined by GeneCards:
  • 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)
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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for P2RX7 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs28360460 uncertain-significance, not provided, - 121,184,747(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_036444 A colorectal cancer sample p.Asn25Ser
VAR_036445 A colorectal cancer sample p.Arg574Leu
rs35933842 not-provided, not provided 121,133,096(+) G/T splice_donor_variant
rs1000002654 -- 121,168,468(+) T/G intron_variant

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 Assay Products

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

Disorders for P2RX7 Gene

MalaCards: The human disease database

(12) MalaCards diseases for P2RX7 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
extrapulmonary tuberculosis
  • eptb
tularemia
  • deerfly fever
bone cancer
  • bone neoplasm
root resorption
pulmonary tuberculosis
  • tuberculosis, pulmonary
- 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 of Genetics and Cytogenetics in Oncology and Haematology
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 56
  2. 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 43 56
  3. P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians. (PMID: 20164546) Sambasivan V … Hasan Q (Disease markers 2010) 3 23 43 56
  4. 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 56
  5. Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach. (PMID: 18543274) Hejjas K … Nemoda Z (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 43 56

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