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

P2RX7 Gene

protein-coding   GIFtS: 70
GCID: GC12P121570

Purinergic Receptor P2X, Ligand-Gated Ion Channel, 7

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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
P2X72 3 5     P2X7 Receptor2
ATP Receptor2 3     Purinergic Receptor P2X7 Variant A2
P2Z Receptor2 3     Purinergic Receptor3

External Ids:    HGNC: 85371   Entrez Gene: 50272   Ensembl: ENSG000000890417   OMIM: 6025665   UniProtKB: Q995723   
ORGUL members:         
NONCODE14:n409565      

Export aliases for P2RX7 gene to outside databases

Previous GC identifers: GC12P120432 GC12P121185 GC12P121353 GC12P119982 GC12P120033 GC12P118580


(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 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, ligand-gated ion channel, 7) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with P2RX7 include extrapulmonary tuberculosis, and tuberculosis, and among its related super-pathways are The NLRP3 inflammasome and Toll-Like receptor Signaling Pathways. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is P2RX5.

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 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, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
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 plasmidP2RX7 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for P2RX7 at MOPED 

Post-translational modifications:

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

  • P2RX7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    P2RX7 Protein Expression
    REFSEQ proteins: NP_002553.3  
    ENSEMBL proteins: 
     ENSP00000438586   ENSP00000442349   ENSP00000439961   ENSP00000445564   ENSP00000261826  
     ENSP00000445325   ENSP00000437729   ENSP00000441230   ENSP00000443640   ENSP00000439247  
     ENSP00000442470   ENSP00000366367   ENSP00000442572   ENSP00000330696   ENSP00000437471  
    Reactome Protein details: Q99572
    Human Recombinant Protein Products for P2RX7: 
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    Novus Biologicals P2RX7 Protein
    Novus Biologicals P2RX7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for P2RX7 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    P2R: Purinergic receptors
    P2RX: Ligand-gated ion channels / Purinergic receptors, ionotropic

    IUPHAR Guide to PHARMACOLOGY protein family classification: P2X7 
    P2X receptors

    3 InterPro protein domains:
     IPR027309 P2X_extracellular_dom
     IPR001429 P2X_purnocptor
     IPR003050 P2X7_purnocptor

    Graphical View of Domain Structure for InterPro Entry Q99572

    ProtoNet protein and cluster: Q99572

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


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


    P2RX7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for P2RX7: P2rx7tm1Lex P2rx7tm1Ipch P2rx7tm1Gab

       inGenious Targeting Laboratory - Custom generated mouse model solutions for P2RX7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for P2RX7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for P2RX7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for P2RX7 

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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate P2RX7 (see all 12):
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    SwitchGear 3'UTR luciferase reporter plasmidP2RX7 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RX7


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for P2RX7 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Inflammasomes
    The NLRP3 inflammasome0.71
    Inflammasomes0.71
    2Toll-Like receptor Signaling Pathways
    NOD-like Receptor Signaling Pathways0.59
    Inflammasome Activation Pathways0.52
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.69
    5CREB Pathway
    Intracellular Calcium Signaling0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for P2RX7
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways

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

    5        Reactome Pathways for P2RX7
        The NLRP3 inflammasome
    Inflammasomes
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Immune System
    Innate 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): 5/79 biological process terms (GO ID links to tree view) (see all 79):    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 #
    ATPgammaS tetralithium saltP2 agonist; ATP (Cat. No. 3245) analog[93839-89-5]
    NF 449Highly selective P2X1 antagonist[389142-38-5]
    A 438079 hydrochlorideCompetitive P2X7 antagonist[899507-36-9]
    Purotoxin 1Potent P2X3 modulator[1396322-38-5]
    TNP-ATP triethylammonium salt Potent, selective P2X antagonist [61368-63-6]

    7 IUPHAR Ligands for P2RX7 (P2X7)    About this table 
    LigandTypeActionAffinityPubmed IDs
    brilliant blue G
    AntagonistAntagonist810860929
    A804598
    AntagonistAntagonist8--
    A839977
    AntagonistAntagonist7.717471177 19558545 19464323
    decavanadate
    AntagonistAntagonist7.416487507
    A740003
    AntagonistAntagonist7.4--
    A438079
    AntagonistAntagonist6.917471177
    KN62
    AntagonistAntagonist6.99113369

    10/44 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    AA362345 AA362346 BM557229 AI419360 AI468408 AI347736 NM_002562 BE503402 
    AI655467 NM_177427 AI886085 BE858390 AI917481 BC011913 AF086177 AX746656 
    BC007679 N34573 T58469 AA528195 AI869236 BI861497 CB960922 BF347747 

    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

    (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)      P2RX7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    P2RX7 Expression
    About this image


    P2RX7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Neural Tube (Nervous System)
             Prosencephalon
     
     Bone (Muscoskeletal System)

     -- (Integumentary System)
             SKIN   

    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

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    (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 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P2rx71 , 5 purinergic receptor P2X, ligand-gated ion channel, more1, 5 81.9(n)1
    80.84(a)1
      5 (62.50 cM)5
    184391  NM_011027.21  NP_035157.21 
     1226439115 
    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
    P2X purinoceptor
    56(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for P2RX7 gene
    P2RX52  P2RX32  ENSG000002579502  P2RX42  P2RX62  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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1769 SNPs in P2RX7 are shown (see all 1769)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364454
    A colorectal cancer sample4--see VAR_0364452 R L mis40--------
    VAR_0364444
    A colorectal cancer sample4--see VAR_0364442 N S mis40--------
    rs37511431,2,4
    C,F,A,Huntested1121420097(-) ACAGCT/GCCTCC 11 /E /A nc-transcript-variantmis129Minor allele frequency- G:0.17NS EA NA MN PA WA EU 10767
    rs2010437411,2
    Cuntested1121420108(+) GCTGCC/TGGAAA 11 R W nc-transcript-variantmis10--------
    rs128234971,2
    A--121366338(+) aaaaaA/Gaaaaa 1 -- us2k1 trp30--------
    rs128235051,2
    A--121366346(+) aaaaaA/Gaaaag 10 -- us2k1 trp30--------
    rs793004671,2
    C--121366362(+) AAGAAA/GAGAGA 10 -- us2k10--------
    rs123204641,2
    C,A--121366365(+) aaagaC/Gaaaga 10 -- us2k1 trp30--------
    rs760249811,2
    C--121366368(+) GAGAAA/GGAAAG 10 -- us2k10--------
    rs1469425491,2
    C--121366368(+) AGAAA-/GAAAGAAAGAAAGAGAAAGAAG
    /GAAAGAAAGAGAAAGAAG/GAAG
    GAAAG
    11 -- us2k1 cds10--------

    HapMap Linkage Disequilibrium report for P2RX7 (121570622 - 121624354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for P2RX7:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv319e199CNV Deletion23128226
    esv2746483CNV Deletion23290073
    esv26396CNV Gain19812545
    nsv521928CNV Gain19592680
    nsv899559CNV Gain21882294
    nsv899563CNV Gain21882294
    nsv832531CNV Gain17160897
    dgv529e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): P2RX7
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602566    OMIM disorders: --

    20/52 diseases for P2RX7 (see all 52):    About MalaCards
    extrapulmonary tuberculosis    tuberculosis    mood disorder    chronic pain
    pancreatic diseases    anxiety disorder    bipolar i disorder    irritable bowel syndrome
    pulmonary tuberculosis    neuroma    bipolar disorder    major depressive disorder
    sarcoidosis    toxoplasmosis    spinal cord injury    hematopoietic stem cell transplantation
    hypoglycemia    skin cancer    cervical cancer    hyperparathyroidism

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

    P2RX7 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/22 Novoseek inferred 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

    (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 450):
    (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. Association between depression and the Gln460Arg polymorphism of P2RX7 Gene: A dimensional approach. (PubMed id 18543274)1, 4, 9 Hejjas K....Nemoda Z. (2008)
    4. Functional variants of the P2RX7 gene, aseptic osteol ysis, and revision of the total hip arthroplasty: a preliminary study. (PubMed id 19891999)1, 4, 9 Mrazek F....Petrek M. (2010)
    5. A polymorphism in the P2X7 gene increases susceptibility to extrapulmonary tuberculosis. (PubMed id 17095747)1, 4, 9 Fernando S.L....Britton W.J. (2007)
    6. P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder. (PubMed id 16822851)1, 4, 9 Lucae S....Muller-Myhsok B. (2006)
    7. 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)
    8. Lack of association between polymorphisms in the P2X7 gene and tuberculosis in a Chinese Han population. (PubMed id 19076224)1, 4, 9 Xiao J....Shen A. (2009)
    9. 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)
    10. Single nucleotide polymorphisms in the P2X7 gene are associated to fracture risk and to effect of estrogen treatment. (PubMed id 17558311)1, 4, 9 Ohlendorff S.D....Jrgensen N.R. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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