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P2RX6 Gene

protein-coding   GIFtS: 53

GC22P019699
purinergic receptor P2X, ligand-gated ion channel, 6
(Previous names: purinergic receptor P2X-like 1, orphan receptor )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: P2RXL1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
MGC129625 1, 2
P2RXL1 2, 3
P2X6 1, 2, 3
P2XM 1, 2, 3
Descriptions
ATP receptor 2, 3
Purinergic receptor 3
Purinergic receptor P2X-like 1 3
purinergic receptor P2X, ligand-gated ion channel, 6 2
purinergic receptor P2X-like 1, orphan receptor 1, 2
purinergic receptor P2X6 2
purinoceptor P2X6 2
purinoreceptor P2X6 2
skeletal muscle-expressed P2X 2
External Ids
HGNC: 85381
Entrez Gene: 91272
UniProtKB: O155473
Ensembl: ENSG000000999577
Search outside databases for aliases for P2RX6 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for P2RX6:
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]

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

Gene Wiki entry for P2RX6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019699:     (about GC identifiers)

Start:
19,699,316 bp from pter
End:
19,713,119 bp from pter
Size:
13,804 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000022.9  NT_011520.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: P2RX6_HUMAN, O15547 (See protein sequence)
Recommended Name: P2X purinoceptor 6  
Size: 431 amino acids; 47913 Da
Subunit: Homo- or heteropolymers (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q58F04 Q6IC33 Q9UL50

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


ENSEMBL proteins: 
ENSP00000385309 ENSP00000338797 ENSP00000383997 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (P2X6)
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IDA12088286
GO:0005887 integral to plasma membrane TAS9242461
GO:0016020 membrane IEA--
GO:0030054 cell junction IDA12088286
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Antibodies for P2RX6: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of P2RX6
Sigma-Aldrich Antibodies for P2RX6
Browse R&D Systems for Antibodies
Antibodies from Abcam (P2X6), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for P2RX6

Assays for P2RX6: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

2 InterPro domains/families:
 IPR001429 P2X_purnocptor
 IPR003049 P2X6_purnocptor


   GeneDecks  P2RX6 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry O15547

ProtoNet protein and cluster: O15547

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


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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (P2RX6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (P2RXL1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005446

              Applied Biosystems Silencer® siRNAs for P2RX6

              Sigma-Aldrich siRNA and siRNA Panels for P2RX6  
                     Sigma-Aldrich shRNA for P2RX6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for P2RX6
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005446
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005446
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_005446 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005446

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

1 MGI phenotypic allele for P2rx6 (no phenotypes)


5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001614 purinergic nucleotide receptor activity NAS12088286
GO:0004888 transmembrane receptor activity TAS9242461
GO:0004931 ATP-gated cation channel activity NAS12088286
GO:0005216 ion channel activity IEA--
GO:0005524 ATP binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


2 Kegg Pathways  (Kegg details for P2RX6):
 hsa04020 Calcium signaling pathway
 hsa04080 Neuroactive ligand-receptor interaction

   GeneDecks  P2RX6 for the pathways selected above  
About GeneDecksing

5/19 Interacting proteins for P2RX6 (ENSP000003387973) via UniProtKB, MINT, and/or STRING (see all 19 )
InteractantInteraction Details
GeneCardExternal ID(s)
P2RX5ENSP000003712553STRING (score=.825)
P2RX7ENSP000002618263STRING (score=.823)
P2RX2ENSP000003433393STRING (score=.819)
P2RX3ENSP000002633143STRING (score=.816)
P2RX1ENSP000002255383STRING (score=.814)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006811 ion transport IEA--
GO:0006936 muscle contraction TAS9242461
GO:0007165 signal transduction TAS9242461
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Compounds for P2RX6 available from Tocris Bioscience
CompoundAction CAS number
iso-PPADS tetrasodium saltP2X antagonist
NF 023Selective, competitive P2X antagonist[104869-31-0]
2-Methylthioadenosine triphosphate tetrasodium saltP2 purinergic agonist[43170-89-4]
TNP-ATP triethylammonium saltPotent, selective P2X antagonist[61368-63-6]
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1 Novoseek chemical compound relationship for P2RX6 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
atp 52.48 3 16242142 (1), 10633863 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (P2RX6)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (P2RXL1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005446

              Sigma-Aldrich siRNA and siRNA Panels for P2RX6  
                     Sigma-Aldrich shRNA for P2RX6  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005446  

REFSEQ mRNAs for P2RX6 gene (2 alternative transcripts): 

NM_001159554.1   NM_005446.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005446  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005446
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005446
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_005446 

Additional cDNA 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 

24/37 AceView cDNA sequences (see all 37 ):

BC064805 H55214 BM696978 BC047287 BG820544 AI356622 NM_005446 BC033488 
BM668009 BX338022 BI753477 BC063553 BF529980 AI096436 AI703080 AB002058 
BI821165 CF131935 BX280306 BI757011 CD676001 CR456535 BX359188 CD620488 

Unigene Cluster for P2RX6:

Purinergic receptor P2X, ligand-gated ion channel, 6
Hs.113275  [show with all ESTs]
Unigene Representative Sequence: AB002058


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for P2RX6 (see all 8 )

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:                                            -     -                                                                                 

About this scheme

ECgene alternative splicing isoforms for P2RX6

3 Ensembl transcripts including schematic representations:
ENST00000401443  ENST00000336296  ENST00000402329  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

P2RX6 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for P2RX6

1 / 2

5 probe-sets matching P2RX6 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

35093_at2 U95-A 1 1.00 1.00 1.00 1.00 -- -- -- -- --

211147_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

206880_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

211147_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

206880_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GCTGGACAAA

SOURCE GeneReport for Unigene cluster: Hs.113275

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for P2RX6 gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
P2RX61   -- purinergic receptor P2X, ligand-gated ion channel, more 80.87(n)
77.99(a)
486436  XM_543562.1  XP_543562.1 
chimpanzee
(Pan troglodytes)
P2RX61   -- purinergic receptor P2X, ligand-gated ion channel, more 99.17(n)
99.09(a)
745626  XM_001168351.1  XP_001168351.1 
cow
(Bos taurus)
P2RX61   -- purinergic receptor P2X, ligand-gated ion channel, more 83.94(n)
82.29(a)
618262  XM_870593.2  XP_875686.2 
rat
(Rattus norvegicus)
P2rx61   -- purinergic receptor P2X, ligand-gated ion channel, more 81.58(n)
80.86(a)
25041  NM_012721.1  NP_036853.1 
mouse
(Mus musculus)
P2rx61, 5 165
purinergic receptor P2X, ligand-gated ion channel, more1, 5 82.84(n)1
83.56(a)1
184401  NM_011028.11  NP_035158.11 
 AB0108835  AK0813085  (see all 9)
About this table        Species with no ortholog for P2RX6

ENSEMBL Gene Tree for P2RX6
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for P2RX6 gene
P2RX52  P2RX12  P2RX42  P2RX72  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/140 NCBI SNPs in P2RX6 are shown (see all 140 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 86)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 22 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs25419541,2
A,C,F,H19711682(+) TCGGTG/AACCCC 1 -- ut319Minor allele frequency- A:0.23EU EA WA 1002
rs20752771,2
A,C,F,H19712482(+) GCACTT/CGTGCA 1 -- ng31 ese35Minor allele frequency- C:0.49EA EU WA 1902
rs10039681,2
A,C,F,H19697590(+) TCCTAC/TGCTCC 1 -- ng5118Minor allele frequency- N:0.00NS MN EU EA WA NA 1424
rs25419531,2
A,C,F,H19711646(+) GATCAC/TTGGGT 1 -- ut31 ese311Minor allele frequency- T:0.29EU EA WA NA 976
rs20146481,2
A,C,F,H19697707(+) caacaC/Tagcga 1 -- ng515Minor allele frequency- T:0.40EU EA WA 598
--
rs20752801,2
C,F,H19699036(+) cctccA/Ttcccc 1 -- ng518Minor allele frequency- N:0.01EA WA NA 672
rs31799091,2
A,C,F19712167(+) AAGGGC/TGAAGG 1 -- ut31 ese35Minor allele frequency- T:0.24MN NA EA 492
rs22778381,2
C,F,H19707650(+) GTTCCA/GCATTG 1 R/H mis1 ese315Minor allele frequency- N:0.00EA NA EU WA 2744
--
rs37614111,2
F,H19697464(+) CAAGTC/GCATGG 1 -- ng514Minor allele frequency- G:0.14EU EA WA 416
rs21065421,2
C,H19707248(+) GCCAGT/AGTGTG 1 S/C mis1 ese34Minor allele frequency- A:0.00EU EA WA 396
About this table

HapMap Linkage Disequilibrium images for P2RX6 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608077

Human Genome Epidemiology Navigator: P2RX6 (4 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

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

10/30 PubMed articles for P2RX6 gene (see all 30 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 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, and/or H-InvDB)
About This Section

Entrez Gene: 9127 HGNC: 8538 AceView: P2RXL1 Ensembl:ENSG00000099957 euGenes: HUgn9127
ECgene: P2RX6 H-InvDB: P2RX6
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

NameDescription
Wikipedia http://en.wikipedia.org/wiki/P2X_receptor
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for P2RX6:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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 Predesigned and custom siRNAs for P2RX6 Antibodies for P2RX6
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 Lentivirus-delivered shRNAs for P2RX6 Browse small molecules at Sigma-Aldrich
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 Search Novus for antibodies for P2RX6

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