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P2RX6 Gene

protein-coding   GIFtS: 59
GCID: GC22P021364

Purinergic Receptor P2X, Ligand-Gated Ion Channel, 6

(Previous names: purinergic receptor P2X-like 1, orphan receptor)
(Previous symbol: P2RXL1)
  Search for P2RX6
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, 61 2     P2X Purinoceptor 62
P2RXL11 2 3 5     Purinoceptor P2X62
P2X62 3 5     Purinoreceptor P2X62
P2XM2 3 5     Skeletal Muscle-Expressed P2X2
Purinergic Receptor P2X-Like 1, Orphan Receptor1 2     Purinergic Receptor3
ATP Receptor2 3     Purinergic Receptor P2X-Like 13

External Ids:    HGNC: 85381   Entrez Gene: 91272   Ensembl: ENSG000000999577   OMIM: 6080775   UniProtKB: O155473   

Export aliases for P2RX6 gene to outside databases

Previous GC identifers: GC22P019699 GC22P021399 GC22P021406 GC22P004637 GC22P021415 GC22P021423 GC22P021430 GC22P021440


(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 P2RX6 Gene:
The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and
mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and
regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical
vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which
is also located on chromosome 22, has been identified. (provided by RefSeq, Apr 2009)

GeneCards Summary for P2RX6 Gene:
P2RX6 (purinergic receptor P2X, ligand-gated ion channel, 6) is a protein-coding gene. GO annotations related to this gene include identical protein binding and channel activity. An important paralog of this gene is P2RX5.

UniProtKB/Swiss-Prot: P2RX6_HUMAN, O15547
Function: Receptor for ATP that acts as a ligand-gated ion channel (By similarity)

summary for P2RX6 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 P2RX6 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_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the P2RX6 gene promoter:
         p53   Lmo2   MyoD   Olf-1   Pax-2   CUTL1   Pax-2a   MIF-1   c-Ets-1   Pax-2b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidP2RX6 promoter sequence
   Search Chromatin IP Primers for P2RX6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat P2RX6


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

P2RX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
P2RX6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P021364:  view genomic region     (about GC identifiers)

Start:
21,364,097 bp from pter      End:
21,383,119 bp from pter
Size:
19,023 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: P2RX6_HUMAN, O15547 (See protein sequence)
Recommended Name: P2X purinoceptor 6  
Size: 441 amino acids; 48829 Da
Subunit: Unlike most P2XRs, P2RX6 does not seem to form homotrimers or heterotrimers
Caution: It is uncertain whether Met-1 or Met-11 is the initiator
Sequence caution: Sequence=AAF13303.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAF13303.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in
the N-terminal part; Sequence=AAH33488.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI09210.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA22046.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA22047.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: F6V3D7 Q32MB6 Q58F04 Q6IC33 Q9UL50
Alternative splicing: 2 isoforms:  O15547-1   O15547-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for P2RX6: NX_O15547

Explore proteomics data for P2RX6 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn165, Asn195, Asn210
  • Modification sites at PhosphoSitePlus

  • See P2RX6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001153026.1  NP_005437.2  

    ENSEMBL proteins: 
     ENSP00000416193   ENSP00000401192   ENSP00000385309   ENSP00000398347   ENSP00000404223  
     ENSP00000407920   ENSP00000338797   ENSP00000383997   ENSP00000408088  

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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: P2X6
    P2X receptors

    3 InterPro protein domains:
     IPR003049 P2X6_purnocptor
     IPR027309 P2X_extracellular_dom
     IPR001429 P2X_purnocptor

    Graphical View of Domain Structure for InterPro Entry O15547

    ProtoNet protein and cluster: O15547

    2 Blocks protein domains:
    IPB001429 ATP P2X receptor
    IPB003049 P2X6 purinoceptor signature


    UniProtKB/Swiss-Prot: P2RX6_HUMAN, O15547
    Similarity: Belongs to the P2X receptor family


    Find genes that share domains with P2RX6           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: P2RX6_HUMAN, O15547
    Function: Receptor for ATP that acts as a ligand-gated ion channel (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001614purinergic nucleotide receptor activity NAS12088286
    GO:0004888transmembrane signaling receptor activity TAS9242461
    GO:0004931extracellular ATP-gated cation channel activity NAS12088286
    GO:0005216ion channel activity ----
    GO:0005524ATP binding NAS12088286
         
    Find genes that share ontologies with P2RX6           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for P2RX6:
     Increased G2M DNA content, inc  Increased viability after born  Large nuclei 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for P2rx6):
     behavior/neurological  integument  nervous system 

    Find genes that share phenotypes with P2RX6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out P2rx6tm1Lex for P2RX6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for P2RX6
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    miRNA
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    miRTarBase miRNAs that target P2RX6:
    hsa-mir-17-3p (MIRT050743)

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    hsa-miR-3194-5p hsa-miR-214 hsa-miR-608 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidP2RX6 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
    P2RX6_HUMAN, O15547: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005639integral component of nuclear inner membrane IBA--
    GO:0005737cytoplasm IDA12088286
    GO:0005887integral component of plasma membrane TAS9242461
    GO:0014069postsynaptic density IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with P2RX6           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 P2RX6 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    2Calcium signaling pathway
    Calcium signaling pathway


    Find genes that share SuperPaths with P2RX6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for P2RX6
        Intracellular Calcium Signaling


    2 Kegg Pathways  (Kegg details for P2RX6):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including P2RX6: 
              Adherens Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for P2RX6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for P2RX6 (O155473 ENSP000004161934) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDH5P331513, ENSP000003441154I2D: score=1 STRING: ENSP00000344115
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9242461
    GO:0006811ion transport ----
    GO:0006812cation transport IBA--
    GO:0006936muscle contraction TAS9242461
    GO:0007165signal transduction TAS9242461

    Find genes that share ontologies with P2RX6           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 P2RX6 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]

    1 Novoseek inferred chemical compound relationship for P2RX6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 53.7 3 16242142 (1), 10633863 (1)



    Find genes that share compounds with P2RX6           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 P2RX6 gene (2 alternative transcripts): 
    NM_001159554.1  NM_005446.3  

    Unigene Cluster for P2RX6:

    Purinergic receptor P2X, ligand-gated ion channel, 6
    Hs.113275  [show with all ESTs]
    Unigene Representative Sequence: AB002058
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591411 ENST00000413302(uc002ztz.2) ENST00000442475 ENST00000401443
    ENST00000469722(uc010gst.1) ENST00000452228 ENST00000432930 ENST00000422210
    ENST00000487342 ENST00000336296(uc010gsu.1 uc002zua.2 uc002zuc.1)
    ENST00000402329 ENST00000443995
    miRNA
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    hsa-miR-3194-5p hsa-miR-214 hsa-miR-608 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidP2RX6 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB002058.1 AK309079.1 BC033488.1 BC047287.1 BC063553.1 BC064805.1 BC109209.2 CR456535.1 

    7 DOTS entries:

    DT.204083  DT.102840440  DT.120668072  DT.101966541  DT.120667846  DT.120667933  DT.100779540 

    Selected AceView cDNA sequences (see all 37):

    BM696978 BC033488 NM_005446 AI356622 BC064805 BG820544 H55214 BC047287 
    CF131935 BM668009 AB002058 AI703080 CD676001 AI096436 BI821165 BF529980 
    CR456535 BX280306 BI757011 BI753477 BX338022 BC063553 BG912438 BM008220 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for P2RX6 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for P2RX6

    (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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    P2RX6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGACAAA
    P2RX6 Expression
    About this image

    P2RX6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    P2RX6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113275

    UniProtKB/Swiss-Prot: P2RX6_HUMAN, O15547
    Tissue specificity: Expressed predominantly in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including P2RX6: 
              Adherens Junctions in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for P2RX6

    (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 P2RX6 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia P2rx61 , 5 purinergic receptor P2X, ligand-gated ion channel, more1, 5 82.38(n)1
    82.12(a)1
      16 (10.88 cM)5
    184401  NM_011028.21  NP_035158.21 
     175618855 
    chicken
    (Gallus gallus)
    Aves LOC4293671 P2X purinoceptor 6-like 66.95(n)
    61.14(a)
      429367  XM_426924.4  XP_426924.4 
    lizard
    (Anolis carolinensis)
    Reptilia P2RX66
    purinergic receptor P2X, ligand-gated ion channel,...
    58(a)
    1 ↔ 1
    GL343417.1(803944-812697)


    ENSEMBL Gene Tree for P2RX6 (if available)
    TreeFam Gene Tree for P2RX6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for P2RX6 gene
    P2RX52  P2RX32  P2RX5-TAX1BP32  P2RX42  P2RX12  P2RX22  P2RX72  
    6 SIMAP similar genes for P2RX6 using alignment to 7 protein entries:     P2RX6_HUMAN (see all proteins):
    P2RX4    P2RX1    P2RX2    P2RX5    P2RX3    P2RX7

    Find genes that share paralogs with P2RX6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for P2RX6
    PGOHUM00000246253


    (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 P2RX6 (see all 388)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1123513591,2
    F--21370602(+) CAGGCC/AAGGGT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1124628081,2
    C,F--21370622(+) TGGCTC/TACGCC 2 -- int14Minor allele frequency- T:0.11NA WA EA 244
    rs1468441651,2
    C--21370638(+) TCCCAA/GCACTT 2 -- int10--------
    rs22518931,2
    C,F,A--21370653(+) AGGCCG/AAGGCA 2 -- int19Minor allele frequency- A:0.32NA WA CSA 136
    rs1406813181,2
    C--21370702(+) TGAAAA/CCCCAT 2 -- int10--------
    rs48207281,2
    C,F--21370722(+) AAATAC/TAAAAA 2 -- int14Minor allele frequency- T:0.50NA WA CSA 8
    rs20058911,2
    C,A--21370761(+) TAGTCC/GCAGCT 2 -- int17Minor allele frequency- G:0.00NA WA CSA 13
    rs58444541,2
    C--21370895(+) aaaaa-/A/    
       AAA
    /G
    GCCAG
    4 -- int1 cds1 trp31NA 2
    rs772389461,2
    C,F--21370995(+) CTGGGG/TCATGG 2 -- int11Minor allele frequency- T:0.08WA 118
    rs1813389811,2
    --21371015(+) GTAGCC/TCTGCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for P2RX6 (21364097 - 21383119 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for P2RX6 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678175CNV Deletion23128226
    nsv436864CNV Insertion17901297
    nsv834141CNV Loss17160897
    nsv3563CNV Loss18451855
    nsv523162CNV Loss19592680
    nsv828960CNV Loss20364138
    nsv471185CNV Loss18288195
    nsv914423CNV Gain21882294
    nsv914429CNV Gain21882294
    nsv834142CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing P2RX6
    DNA2.0 Custom Variant and Variant Library Synthesis for P2RX6

    (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: 608077    OMIM disorders: --


    Find genes that share disorders with P2RX6           About GenesLikeMe

    Genetic Association Database (GAD): P2RX6
    Human Genome Epidemiology (HuGE) Navigator: P2RX6 (4 documents)

    Export disorders for P2RX6 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 P2RX6 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with P2RX6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    2. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. (PubMed id 9242461)1, 2, 3 Urano T....Tokino T. (Cancer Res. 1997)
    3. 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)
    4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4 Luke M.M....Psaty B.M. ( a journal of cerebral circulation 2009)
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    6. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PubMed id 17975119)1, 4 Shiffman D....Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008)
    7. Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize. (PubMed id 15657042)1, 2 Barrera N.P....Edwardson J.M. (J. Biol. Chem. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    10. Identification of the phosphotyrosine proteome from thrombin activated platelets. (PubMed id 12112843)1, 2 Maguire P.B....Fitzgerald D.J. (Proteomics 2002)

    (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: 9127 HGNC: 8538 AceView: P2RXL1 Ensembl:ENSG00000099957 euGenes: HUgn9127
    ECgene: P2RX6 Kegg: 9127 H-InvDB: P2RX6

    (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 P2RX6 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 P2RX6 gene:
    Search GeneIP for patents involving P2RX6

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



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