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P2RX4 Gene

protein-coding   GIFtS: 66
GCID: GC12P121647

Purinergic Receptor P2X, Ligand-Gated Ion Channel, 4

  See P2RX4-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Purinergic Receptor P2X, Ligand-Gated Ion Channel, 41 2     P2X Purinoceptor 42
P2X42 3 5     P2X Receptor, Subunit 42
ATP Receptor2 3     Purinergic Receptor P2X42
P2X4R2     Purinoceptor P2X42
ATP-Gated Cation Channel Protein2     Purinergic Receptor3

External Ids:    HGNC: 85351   Entrez Gene: 50252   Ensembl: ENSG000001351247   OMIM: 6008465   UniProtKB: Q995713   

Export aliases for P2RX4 gene to outside databases

Previous GC identifers: GC12P120510 GC12P121227 GC12P121430 GC12P120059 GC12P120110 GC12P118657


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for P2RX4 Gene:
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated
ion channel with high calcium permeability. The main pharmacological distinction between the members of the
purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene
has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some
protein-coding and some not protein-coding, have been found for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for P2RX4 Gene:
P2RX4 (purinergic receptor P2X, ligand-gated ion channel, 4) is a protein-coding gene. Diseases associated with P2RX4 include chronic pain. GO annotations related to this gene include copper ion binding and protein homodimerization activity. An important paralog of this gene is P2RX5.

UniProtKB/Swiss-Prot: P2RX4_HUMAN, Q99571
Function: Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the
antagonists PPADS and suramin

summary for P2RX4 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 P2RX4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the P2RX4 gene promoter:
         p300   FOXD3   STAT5A   SRY   PPAR-gamma1   POU2F1   POU2F1a   IRF-7A   PPAR-gamma2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidP2RX4 promoter sequence
   Search Chromatin IP Primers for P2RX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P2RX4


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

Entrez Gene cytogenetic band: 12q24.32   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.32

P2RX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P2RX4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121647:  view genomic region     (about GC identifiers)

Start:
121,647,660 bp from pter      End:
121,671,909 bp from pter
Size:
24,250 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: P2RX4_HUMAN, Q99571 (See protein sequence)
Recommended Name: P2X purinoceptor 4  
Size: 388 amino acids; 43369 Da
Subunit: Functional P2XRs are organized as homomeric and heteromeric trimers (By similarity)
Secondary accessions: E7EPF7 F6RU17 O00450 O14722 Q5U089 Q5U090 Q8N4N1 Q9UBG9
Alternative splicing: 3 isoforms:  Q99571-1   Q99571-2   Q99571-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for P2RX4: NX_Q99571

Explore proteomics data for P2RX4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn75, Asn110, Asn153, Asn184, Asn199, Asn208
  • Modification sites at PhosphoSitePlus

  • See P2RX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243725.1  NP_001248326.1  NP_001248327.1  NP_002551.2  

    ENSEMBL proteins: 
     ENSP00000336607   ENSP00000353032   ENSP00000444274   ENSP00000439386   ENSP00000444033  
     ENSP00000438329   ENSP00000437396   ENSP00000443115   ENSP00000438131  

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: P2X4
    P2X receptors

    3 InterPro protein domains:
     IPR003047 P2X4_purnocptor
     IPR027309 P2X_extracellular_dom
     IPR001429 P2X_purnocptor

    Graphical View of Domain Structure for InterPro Entry Q99571

    ProtoNet protein and cluster: Q99571

    2 Blocks protein domains:
    IPB001429 ATP P2X receptor
    IPB003047 P2X4 purinoceptor signature


    UniProtKB/Swiss-Prot: P2RX4_HUMAN, Q99571
    Similarity: Belongs to the P2X receptor family


    Find genes that share domains with P2RX4           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P2RX4_HUMAN, Q99571
    Function: Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the
    antagonists PPADS and suramin

         Genatlas biochemistry entry for P2RX4:
    purinoceptor,P2X4,ionotropic class,expressed in heart and spinal cord

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001614purinergic nucleotide receptor activity IMP11606481
    GO:0004931extracellular ATP-gated cation channel activity IDA10515189
    GO:0005102receptor binding ISS17785580
    GO:0005216ion channel activity ----
    GO:0005507copper ion binding ISS12819199
         
    Find genes that share ontologies with P2RX4           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for P2rx4):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  muscle 
     nervous system  renal/urinary system 

    Find genes that share phenotypes with P2RX4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for P2RX4: P2rx4tm1Ando P2rx4tm1Rass

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P2RX4
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    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-330-5p hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidP2RX4 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    P2RX4_HUMAN, Q99571: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton2
    extracellular2
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005639integral component of nuclear inner membrane IBA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane ISS17785580
    GO:0005887integral component of plasma membrane IMP10515189
    GO:0014069postsynaptic density ----

    Find genes that share ontologies with P2RX4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for P2RX4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1CREB Pathway
    Intracellular Calcium Signaling0.50
    2Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    3Sodium channels and transporters inward current
    Sodium channels and transporters inward current
    4Potassium transporters inward current
    Potassium transporters inward current
    5Calcium signaling pathway
    Calcium signaling pathway


    Find genes that share SuperPaths with P2RX4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for P2RX4
        Intracellular Calcium Signaling


    2 Kegg Pathways  (Kegg details for P2RX4):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including P2RX4: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for P2RX4

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for P2RX4 (Q995713 ENSP000003366074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDH5P331513, ENSP000003441154I2D: score=2 STRING: ENSP00000344115
    MCM2ENSP000002650564STRING: ENSP00000265056
    WNT4ENSP000002901674STRING: ENSP00000290167
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001894tissue homeostasis NAS17264311
    GO:0002028regulation of sodium ion transport ISS17785580
    GO:0006809nitric oxide biosynthetic process ----
    GO:0006810transport IDA9016352
    GO:0006811ion transport ----

    Find genes that share ontologies with P2RX4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for P2RX4 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]

    9 Novoseek inferred chemical compound relationships for P2RX4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha,beta methylene atp 81.2 1 15208093 (1)
    bzatp 77.4 1 16373435 (1)
    atp 75.7 18 17299767 (3), 10969036 (3), 9151945 (2), 10414359 (1) (see all 12)
    suramin 69.7 2 10860929 (1), 8786426 (1)
    ppads 66.4 1 16344139 (1)
    2-methylthio-atp 51.5 1 15208093 (1)
    calcium 32.2 4 17043813 (2), 17325195 (1), 16000699 (1)
    oxygen 0 2 16344139 (1), 12849743 (1)
    glucose 0 3 16344139 (1), 12437584 (1), 12849743 (1)



    Find genes that share compounds with P2RX4           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for P2RX4 gene (6 alternative transcripts): 
    NM_001256796.1  NM_001261397.1  NM_001261398.1  NM_002560.2  NM_175567.1  NM_175568.1  

    Unigene Cluster for P2RX4:

    Purinergic receptor P2X, ligand-gated ion channel, 4
    Hs.321709  [show with all ESTs]
    Unigene Representative Sequence: NM_001256796
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337233(uc010szr.1 uc010szs.1 uc001tzr.3 uc009zxc.3 uc010szt.2 uc009zxb.3)
    ENST00000359949 ENST00000543430 ENST00000540930 ENST00000543318 ENST00000499638
    ENST00000543984 ENST00000538701 ENST00000542067 ENST00000541187 ENST00000538417
    ENST00000314442 ENST00000397924 ENST00000541532 ENST00000543171
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    Selected qRT-PCR Assays for microRNAs that regulate P2RX4 (see all 25):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-330-5p hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372
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    Additional mRNA sequence: 

    AF000234.1 AF012903.1 AK225604.1 AK293599.1 AK293660.1 AK297704.1 AK301080.1 AK308549.1 
    BC017458.1 BC033826.1 BT019738.1 BT019739.1 DQ851491.1 JF807485.1 JX471561.1 NR_046372.1 
    NR_046373.1 U83993.1 Y07684.1 

    12 DOTS entries:

    DT.114444  DT.100719202  DT.100691479  DT.95205863  DT.100775312  DT.102836348  DT.100773570  DT.100017747 
    DT.95205851  DT.97793813  DT.97794658  DT.121195527 

    Selected AceView cDNA sequences (see all 164):

    NM_002560 BU681981 CK903225 BM055168 AW295511 CN482744 AU076568 BM783735 
    CR613665 BQ221852 AA337884 BU581537 AI082452 AW024997 BM561461 BM796338 
    CR623433 BM747659 BF061015 BC017458 CR613673 BU624263 NM_175567 BM837866 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for P2RX4 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:                                -                       -     -                                         -                 -         
    SP2:                                                        -     -                                                                     
    SP3:                                -                       -     -     -                                                               
    SP4:                                -                       -                                                                           
    SP5:                                -     -                 -     -                                                                     


    ECgene alternative splicing isoforms for P2RX4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    P2RX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCAGAGCT
    P2RX4 Expression
    About this image


    P2RX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    P2RX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    P2RX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.321709
        Pathway & Disease-focused RT2 Profiler PCR Array including P2RX4: 
              Hypertension in human mouse rat

    Primer
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for P2RX4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P2rx41 , 5 purinergic receptor P2X, ligand-gated ion channel 41, 5 85.4(n)1
    87.37(a)1
      5 (62.53 cM)5
    184381  NM_011026.21  NP_035156.21 
     1227075845 
    chicken
    (Gallus gallus)
    Aves P2RX41 purinergic receptor P2X, ligand-gated ion channel, more 74.67(n)
    76.76(a)
      374166  NM_204291.1  NP_989622.1 
    lizard
    (Anolis carolinensis)
    Reptilia P2RX46
    purinergic receptor P2X, ligand-gated ion channel,...
    75(a)
    1 ↔ 1
    LGb(2279130-2287881)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982062 ATP-gated ion channel subunit P2X4 75.65(n)    AF308152.1 
    zebrafish
    (Danio rerio)
    Actinopterygii p2rx4a2 purinergic receptor P2X, ligand-gated ion channel, more 75.34(n)   259258  AF317643.1 


    ENSEMBL Gene Tree for P2RX4 (if available)
    TreeFam Gene Tree for P2RX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for P2RX4 gene
    P2RX52  P2RX32  P2RX5-TAX1BP32  P2RX62  P2RX12  P2RX22  P2RX72  
    7 SIMAP similar genes for P2RX4 using alignment to 8 protein entries:     P2RX4_HUMAN (see all proteins):
    P2X4    P2RX1    P2RX6    P2RX3    P2RX5    P2RX7
    P2RX2

    Find genes that share paralogs with P2RX4           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for P2RX4 (see all 734)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38388061,2
    C--118667214(-) ATCTA-/TCTA/ 
    TCTATCTA
    ATCTA
    6 -- int11NA 2
    rs1419239451,2
    --121645720(+) AAGTGC/TTGCAG 6 -- us2k10--------
    rs1812584541,2
    --121645835(+) AGATAA/GTTTGA 6 -- us2k10--------
    rs110654841,2
    C,F,H--121646016(+) CATGGG/ACATCT 6 -- us2k112Minor allele frequency- A:0.07NS EA NA 1484
    rs1853316601,2
    --121646253(+) TTTTCC/TGGAAG 6 -- us2k10--------
    rs1911612721,2
    --121646262(+) AGAAAC/TGGTCC 6 -- us2k10--------
    rs283604611,2
    C,F,H--121646323(+) GTAGTG/ACGAAT 6 -- us2k15Minor allele frequency- A:0.01NS NA 508
    rs762783361,2
    F--121646407(+) TGCTGC/TATGAA 6 -- us2k11Minor allele frequency- T:0.09WA 118
    rs37639751,2
    C,F--121646472(-) TATTCA/CTAAGC 6 -- us2k11Minor allele frequency- C:0.11EA 120
    rs37639741,2
    C,F--121646483(-) TTCCCA/TGAAAA 6 -- us2k11Minor allele frequency- T:0.09EA 120

    HapMap Linkage Disequilibrium report for P2RX4 (121647660 - 121671909 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for P2RX4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899564CNV Loss21882294
    nsv455731CNV Loss19166990
    nsv521928CNV Gain19592680
    nsv899565CNV Gain+Loss21882294

    Human Gene Mutation Database (HGMD): P2RX4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing P2RX4
    DNA2.0 Custom Variant and Variant Library Synthesis for P2RX4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600846    OMIM disorders: --

    1 disease for P2RX4:    
    About MalaCards
    chronic pain


    Find genes that share disorders with P2RX4           About GenesLikeMe

    Genetic Association Database (GAD): P2RX4
    Human Genome Epidemiology (HuGE) Navigator: P2RX4 (6 documents)

    Export disorders for P2RX4 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)
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    PubMed articles for P2RX4 gene, integrated from 10 sources (see all 121):
    (articles sorted by number of sources associating them with P2RX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of recombinant human P2X4 receptor reveals pharmacological differences to the rat homologue. (PubMed id 9016352)1, 2, 3 Garcia-Guzman M....Stuhmer W. (Mol. Pharmacol. 1997)
    2. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. (PubMed id 18852390)1, 4, 9 Palomino-Doza J....Keavney B. (Hypertension 2008)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders. (PubMed id 17197037)1, 4 Erhardt A....Holsboer F. (J Affect Disord 2007)
    5. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)1, 4 Iwai N....Shioji K. (J. Hypertens. 2004)
    6. Site-specific splice variation of the human P2X4 receptor. (PubMed id 10515189)1, 2 Carpenter D.... Sanger G.J. (Neurosci. Lett. 1999)
    7. Dynamic regulation of the P2X4 receptor in alveolar macrophages by phagocytosis and classical activation. (PubMed id 19283779)1, 9 Stokes L. and Surprenant A. (Eur. J. Immunol. 2009)
    8. Fluid shear stress activates Ca(2+) influx into human endothelial cells via P2X4 purinoceptors. (PubMed id 10969036)1, 9 Yamamoto K....Ando J. (Circ. Res. 2000)
    9. Amyloid-beta induces a caspase-mediated cleavage of P2X4 to promote purinotoxicity. (PubMed id 19562525)1, 9 Varma R....Haughey N.J. (Neuromolecular Med. 2009)
    10. Evidence for functional P2X4/P2X7 heteromeric receptors. (PubMed id 17785580)1, 9 Guo C....Murrell-Lagnado R.D. (Mol. Pharmacol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 5025 HGNC: 8535 AceView: P2RX4 Ensembl:ENSG00000135124 euGenes: HUgn5025
    ECgene: P2RX4 Kegg: 5025 H-InvDB: P2RX4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for P2RX4 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/P2X_receptor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for P2RX4 gene:
    Search GeneIP for patents involving P2RX4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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