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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

P2RX7 Gene

protein-coding   GIFtS: 68
GCID: GC12P121570

purinergic receptor P2X, ligand-gated ion channel, 7
 Explore 56 diseases affiliated with
P2RX7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for P2RX7    

Aliases
for P2RX7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Purinergic Receptor P2X, Ligand-Gated Ion Channel, 71 2     P2X Purinoceptor 72
P2X71 2 3 5     P2X7 Receptor2
ATP Receptor2 3     Purinergic Receptor P2X7 Variant A2
P2Z Receptor2 3     Purinergic Receptor3
MGC200891     

External Ids:    HGNC: 85371   Entrez Gene: 50272   Ensembl: ENSG000000890417   OMIM: 6025665   UniProtKB: Q995723   
ORGUL members:         
NONCODE:n409565    

Export aliases for P2RX7 gene to outside databases

Previous GC identifers: GC12P120432 GC12P121185 GC12P121353 GC12P119982 GC12P120033 GC12P118580


Summaries
for P2RX7 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for P2RX7:
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)

UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572
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

summary for P2RX7:
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, a large extracellular loop and intracellular C- and N-termini. Receptors can be
formed from triplets of identical subunits (homomeric) and can also exist as heteromers. With the exception
of P2X6, all subunits can form homomeric receptors. P2X receptors have a wide distribution throughout the
body, including the central, peripheral and autonomic nervous systems, smooth muscle, heart and leukocytes.
They are involved in a range of physiological processes such as modulation of synaptic transmission,
vascular tone, cardiac rhythm and contractility and nociception.

Gene Wiki entry for P2RX7


Genomic Views
for P2RX7 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the P2RX7 gene promoter:
         NF-1   SREBP-1c   YY1   SREBP-1b   CREB   SREBP-1a   deltaCREB   FOXO1a   NF-kappaB1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: P2RX7 promoter sequence
   Search SABiosciences Chromatin IP Primers for P2RX7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat P2RX7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

P2RX7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P2RX7 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121570:  view genomic region     (about GC identifiers)

Start:
 121,570,622 bp from pter      End:
 121,624,354 bp from pter
Size:
 53,733 bases      Orientation:
 plus strand

Proteins
for P2RX7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572 (See protein sequence)
Recommended Name: P2X purinoceptor 7  
Size: 595 amino acids; 68585 Da
Subunit: Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4,
SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: A8K2Z0 O14991 Q96EV7

Explore the universe of human proteins at neXtProt for P2RX7: NX_Q99572

Post-translational modifications:

  • Phosphorylation results in its inactivation1
  • ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel (By similarity)1
  • Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell
    • surface1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99572

    • P2RX7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002553.3  
    ENSEMBL proteins: 
     ENSP00000438586   ENSP00000442349   ENSP00000439961   ENSP00000445564   ENSP00000261826  
     ENSP00000399864   ENSP00000445325   ENSP00000437729   ENSP00000441230   ENSP00000443640  
     ENSP00000439247   ENSP00000442470   ENSP00000366367   ENSP00000442572   ENSP00000330696  
     ENSP00000437471  
    Reactome Protein details: Q99572
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: P2RX7
    OriGene Custom Protein Services for P2RX7 
    GenScript Custom Purified and Recombinant Proteins Services for P2RX7
    Novus Biologicals P2RX7 Protein
    Novus Biologicals P2RX7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for P2RX7

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005639integral to nuclear inner membrane IEA--
    GO:0005737cytoplasm ISS--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IC9038151
    GO:0005911cell-cell junction IEA--


    P2RX7 for ontologies           About GeneDecksing



    P2RX7 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of P2RX7
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    Novus Biologicals P2RX7 Antibodies
    Abcam antibodies for P2RX7 
    Uscn Antibodies for P2RX7
    ThermoFisher Antibodies for P2RX7

    Assay Products for P2RX7: 
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    Uscn ELISAs and CLIAs for P2RX7

    Protein Domains /
    Families
    for P2RX7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    P2RX7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001429 P2X_purnocptor
     IPR003050 P2X7_purnocptor

    Graphical View of Domain Structure for InterPro Entry Q99572

    ProtoNet protein and cluster: Q99572

    2 Blocks protein families:
    IPB001429 ATP P2X receptor
    IPB003050 P2X7 purinoceptor signature


    UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572
    Similarity: Belongs to the P2X receptor family


    Function
    for P2RX7 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: P2RX7_HUMAN, Q99572
    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

         Genatlas biochemistry entry for P2RX7:
    purinoceptor,P2X7

    miRNA
    Products:            		miRTarBase miRNAs that target P2RX7:
    hsa-mir-150 (MIRT004357), hsa-mir-186 (MIRT004356)

    OriGene 3'-UTR Clone: P2RX7
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat P2RX7
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate P2RX7 (see all 12):
    hsa-miR-125a-3p hsa-miR-657 hsa-miR-4299 hsa-miR-216b hsa-miR-3647-3p hsa-miR-211 hsa-miR-3150b-3p hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmid: P2RX7 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for P2RX7 (see all 7)
    OriGene shRNA RFP: P2RX7
    OriGene siRNA: P2RX7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat P2RX7

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for P2RX7

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for P2RX7
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: P2RX7 (NM_002562)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for P2RX7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat P2RX7 

    Cell Line
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    Search LifeMap BioReagents cell lines for P2RX7

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RX7

    Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0001530lipopolysaccharide binding ISS--
    GO:0001614purinergic nucleotide receptor activity IDA9038151
    GO:0004872receptor activity ----
    GO:0004931extracellular ATP-gated cation channel activity IDA9038151


    P2RX7 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for P2RX7: P2rx7tm1Lex P2rx7tm1Ipch P2rx7tm1Gab
         10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for P2rx7):
     behavior/neurological  cardiovascular system  cellular  growth/size  hearing/vestibular/ear 
     hematopoietic system  immune system  integument  limbs/digits/tail  skeleton 

    P2RX7 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for P2RX7 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Inflammasomes
    		Inflammasomes1.00
    		The NLRP3 inflammasome0.71
    2Immune System
    		Immune System1.00
    		Innate Immune System0.46
    3P2X7 mediates membrane pores that include pannexin-1
    		P2X7 mediates membrane pores that include pannexin-11.00
    4Calcium signaling pathway
    		Calcium signaling pathway1.00
    5Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    		Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for P2RX7
        Inflammasome Activation Pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for P2RX7
        Intracellular Calcium Signaling

    5/6        Reactome Pathways for P2RX7 (see all 6)
        P2X7 mediates membrane pores that include pannexin-1
    The NLRP3 inflammasome
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Immune System


    2         Kegg Pathways  (Kegg details for P2RX7):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction


    P2RX7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for P2RX7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for P2RX7 (Q995721, 2, 3 ENSP000002618264) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-1753251,EBI-375543 MINT-8110611 I2D: score=3 STRING: ENSP00000361423
    NCK1P163331, 3, ENSP000002889864EBI-1753251,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    GRB2P629931, 3, ENSP000003390074EBI-1753251,EBI-401755 I2D: score=2 STRING: ENSP00000339007
    CAMPP499133I2D: score=1 
    APPENSP000002849814STRING: ENSP00000284981
    About this table

    Gene Ontology (GO): 5/77 biological process terms (GO ID links to tree view) (see all 77):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IEA--
    GO:0000902cell morphogenesis IEA--
    GO:0001845phagolysosome assembly IEA--
    GO:0001916positive regulation of T cell mediated cytotoxicity IEA--
    GO:0001934positive regulation of protein phosphorylation ----


    P2RX7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for P2RX7 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    P2RX7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for P2RX7 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 11645373Potent and selective human P2X7 antagonist[227088-94-0]
    AZ 10606120 dihydrochloridePotent P2X7 receptor antagonist--
    A 438079 hydrochlorideCompetitve P2X7 antagonist[899507-36-9]
    A 804598Potent and selective P2X7 antagonist[1125758-85-1]
    A 740003Potent and selective P2X7 antagonist[861393-28-4]
    10/44 Novoseek chemical compound relationships for P2RX7 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bzatp 96.6 48 9384508 (3), 18545980 (3), 15325248 (2), 14741428 (2) (see all 30)
    oatp 85.4 14 19385050 (3), 16341234 (2), 14522840 (1), 18627610 (1) (see all 7)
    atp 85.2 276 15304508 (4), 12151017 (4), 9384508 (4), 19889958 (4) (see all 99)
    kn62 83.3 7 9324363 (1), 10762053 (1), 16117789 (1)
    atp(4-) 82 7 8879819 (3), 8360160 (1), 16338230 (1), 1846654 (1) (see all 5)
    ppads 76.1 3 16344139 (1), 18490962 (1), 20136836 (1)
    2-methylthio-atp 73.2 2 9384508 (1)
    ethidium bromide 71.9 8 15942904 (3), 19814727 (1), 16487507 (1), 19800793 (1) (see all 6)
    suramin 70.3 6 9324363 (1), 18501702 (1), 18242779 (1), 19889958 (1)
    atpgammas 68.3 2 12956724 (1), 9384508 (1)

    Search CenterWatch for drugs/clinical trials and news about P2RX7 

    Transcripts
    for P2RX7 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for P2RX7 gene (2 alternative transcripts): 
    NM_002562.5  NM_177427.2  

    Unigene Cluster for P2RX7:

    Purinergic receptor P2X, ligand-gated ion channel, 7
    Hs.729169  [show with all ESTs]
    Unigene Representative Sequence: NR_033948
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537312 ENST00000546057 ENST00000535928 ENST00000539695 ENST00000545434
    ENST00000261826(uc001tzn.3 uc001tzm.3 uc001tzo.3 uc001tzp.3 uc001tzq.3)
    ENST00000443520 ENST00000539606 ENST00000541716 ENST00000541022 ENST00000541564
    ENST00000538011 ENST00000535600 ENST00000377162 ENST00000535250 ENST00000328963
    ENST00000541446

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate P2RX7 (see all 12):
    hsa-miR-125a-3p hsa-miR-657 hsa-miR-4299 hsa-miR-216b hsa-miR-3647-3p hsa-miR-211 hsa-miR-3150b-3p hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmid: P2RX7 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for P2RX7 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat P2RX7
    Clone
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    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for P2RX7
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat P2RX7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat P2RX7

    Additional cDNA sequence: 

    AB209709.1 AF086177.1 AK090866.1 AK225163.1 AK290405.1 AK294126.1 AK296432.1 AY847298.1 
    AY847299.1 AY847300.1 AY847301.1 AY847302.1 AY847303.1 AY847304.1 BC007679.2 BC011913.2 
    BC121157.1 BC121158.1 DQ399293.1 GQ180122.1 JX471562.1 NR_033948.1 NR_033949.1 NR_033950.1 
    NR_033951.1 NR_033952.1 NR_033953.1 NR_033954.1 NR_033955.1 NR_033956.1 Y09561.1 

    13 DOTS entries:

    DT.40195733  DT.91889751  DT.121148625  DT.100016588  DT.121148623  DT.91816221  DT.121148608  DT.121148617 
    DT.121148629  DT.95095086  DT.100777516  DT.121148599  DT.121148612 

    24/72 AceView cDNA sequences (see all 72):

    BE503402 NM_002562 AA362345 BE858390 AI347736 AI917481 AI886085 AI655467 
    AA362346 AI419360 NM_177427 BM557229 AI468408 BC007679 BE816017 AI566800 
    AF086177 BM677585 AK090866 N34573 CB960922 BX506820 AA210664 BE382829 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for P2RX7 (see all 13)    About this scheme

    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:                                                  -                 -     -     -     -                                                               


    ECgene alternative splicing isoforms for P2RX7

    Expression
    for P2RX7 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    P2RX7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See P2RX7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for P2RX7

    SOURCE GeneReport for Unigene cluster: Hs.729169
        SABiosciences Expression via Pathway-Focused PCR Arrays including P2RX7: 
              GABA & Glutamate in human mouse rat
              Inflammasomes in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for P2RX7 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for P2RX7 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves P2RX71 purinergic receptor P2X, ligand-gated ion channel, more 57.66(n)
    49.08(a)    		   771952  XM_001235162.2  XP_001235163.2 
    lizard
    (Anolis carolinensis)    		 Reptilia P2RX76
    		 --
    		 57(a)
    		 1 ↔ 1
    		 LGb(2266525-2275583)
    African clawed frog
    (Xenopus laevis)    		 Amphibia p2X72 ATP gated ion channel 73.86(n)    AJ345114.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii AY292652.12   -- 73.52(n)   387301  AY292652.1 


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

    Paralogs
    for P2RX7 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for P2RX7 gene
    P2RX52  P2RX32  ENSG000002579502  P2RX62  P2RX42  P2RX12  P2RX22  
    8 SIMAP similar genes for P2RX7 using alignment to 21 protein entries:     P2RX7_HUMAN (see all proteins):
    C12orf76    P2X4    P2RX1    P2RX4    P2RX3    P2RX5
    P2RX2    P2RX6

    P2RX7 for paralogs           About GeneDecksing



    Genomic Variants
    for P2RX7 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1487 NCBI SNPs in P2RX7 are shown (see all 1487)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs37511431,2
    		C,F,A,H,untested121622304(-) ACAGCT/GCCTCC 11 /E /A nc-transcript-variantmis129Minor allele frequency- G:0.17NS EA NA MN PA WA EU 10767
    rs128234971,2
    		A--121568622(+) aaaaaA/Gaaaaa 1 -- us2k1 trp30--------
    rs128235051,2
    		A--121568630(+) aaaaaA/Gaaaag 1 -- us2k1 trp30--------
    rs793004671,2
    		C--121568646(+) AAGAAA/GAGAGA 10 -- us2k10--------
    rs557828151,2
    		C--121568648(+) GAAAAA/GAGAAA 10 -- us2k10--------
    rs123204641,2
    		C,A--121568650(+) AAAGAC/GAAAGA 10 -- us2k1 trp30--------
    rs760249811,2
    		C--121568653(+) GAGAAA/GGAAAG 10 -- us2k10--------
    rs1469425491,2
    		--121568653(+) AGAAA-/GAAG  
                GAAAG     		10 -- us2k10--------
    rs1156764691,2
    		--121568751(+) CGTAAA/GAGATG 10 -- us2k11Minor allele frequency- G:0.01WA 118
    rs6571721,2
    		C,--121568874(+) TATGGA/GCTTTC 10 -- us2k1 tfbs39Minor allele frequency- G:0.05WA NA CSA EA 368

    HapMap Linkage Disequilibrium report for P2RX7 (121570622 - 121624354 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for P2RX7
         2 CNVs: 3899 66345
    Human Gene Mutation Database (HGMD): P2RX7

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for P2RX7

    Disorders / Diseases
    for P2RX7 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    P2RX7 for disorders           About GeneDecksing

    OMIM gene information: 602566    OMIM disorders: --

    20/56 diseases for P2RX7 (see all 56):    About MalaCards
    spinal cord injury    mycobacterial infection    major depressive disorder    bipolar affective disorder
    irritable bowel syndrome    amyotrophic lateral sclerosis    mood disorder    extrapulmonary tuberculosis
    bipolar i disorder    lateral sclerosis    systemic lupus erythematosus    lymphocytic leukemia
    anxiety disorder    lupus erythematosus    bipolar disorder    chronic lymphocytic leukemia
    neurodegenerative disease    sarcoidosis    tuberculosis    neuroma

    1 disease from the University of Copenhagen DISEASES database for P2RX7:
    Tuberculosis

    10/22 Novoseek disease relationships for P2RX7 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia lymphocytic chronic 40.8 2 18937793 (1), 15184265 (1)
    leukaemia lymphocytic 39.6 5 12931211 (2), 15180873 (1), 12727428 (1), 12493261 (1)
    lymphocytic leukemia chronic b-cell 34.8 3 15089763 (1), 18937793 (1), 11781259 (1)
    mycobacterial infection 28.8 1 15942904 (1)
    inflammation 23.9 8 19524819 (1), 18772321 (1), 17367517 (1), 18602931 (1) (see all 8)
    tuberculosis 21.3 19 19076224 (4), 12404161 (1), 11693438 (1)
    bipolar disorder 17.3 8 17558618 (1), 20446288 (1), 16822851 (1), 18543274 (1)
    renal cyst 14.8 1 15325248 (1)
    tuberculosis pulmonary 9.51 3 20164546 (1), 17034577 (1), 17493019 (1)
    necrosis 8.8 5 17558618 (1), 17525149 (1), 16613995 (1), 15830104 (1) (see all 5)

    Genetic Association Database (GAD): P2RX7
    Human Genome Epidemiology (HuGE) Navigator: P2RX7 (55 documents)

    Export disorders for P2RX7 gene to outside databases

    Publications
    for P2RX7 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for P2RX7 gene, integrated from 9 sources (see all 431):
    (articles sorted by number of sources associating them with P2RX7)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA. (PubMed id 9038151)1, 2, 3, 9 Rassendren F....Surprenant A. (1997)
    2. Gene structure and chromosomal localization of the human P2X7 receptor. (PubMed id 9826911)1, 2, 3 Buell G.N....Antonarakis S.E. (1998)
    3. A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population. (PubMed id 15862308)1, 4, 9 Skarratt K.K....Wiley J.S. (2005)
    4. P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence, survival and abnormalities of chromosome 12. (PubMed id 12931211)1, 4, 9 Zhang L.Y....Cross N.C. (2003)
    5. Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia. (PubMed id 12493261)1, 4, 9 Thunberg U....Rosenquist R. (2002)
    6. Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts. (PubMed id 18971257)1, 2, 9 Gonnord P....Kanellopoulos J.M. (2009)
    7. 1513A/C polymorphism in the P2X7 receptor gene in chronic lymphocytic leukemia: absence of correlation with clinical outcome. (PubMed id 15089763)1, 4, 9 Nuckel H....Siffert W. (2004)
    8. An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor. (PubMed id 15123679)1, 2, 9 Gu B.J....Wiley J.S. (2004)
    9. The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia. (PubMed id 15184265)1, 4, 9 Sellick G.S....Houlston R.S. (2004)
    10. Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population. (PubMed id 12404161)1, 4, 9 Li C.M....Lammas D.A. (2002)

    External Searches for P2RX7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing P2RX7 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5027 HGNC: 8537 AceView: P2RX7 Ensembl:ENSG00000089041 euGenes: HUgn5027
    ECgene: P2RX7 Kegg: 5027 H-InvDB: P2RX7

    Other Databases showing P2RX7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing P2RX7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for P2RX7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for P2RX7 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/P2X_receptor
    Wikipedia http://en.wikipedia.org/wiki/P2RX7

    Intellectual Property
    for P2RX7 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for P2RX7 gene:
    Search GeneIP for patents involving P2RX7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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