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Aliases for P2RX6 Gene

Aliases for P2RX6 Gene

  • Purinergic Receptor P2X 6 2 3 5
  • Purinergic Receptor P2X-Like 1, Orphan Receptor 2 3
  • ATP Receptor 3 4
  • P2RXL1 3 4
  • P2X6 3 4
  • P2XM 3 4
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 6 2
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 6 3
  • Purinergic Receptor P2X-Like 1 4
  • Skeletal Muscle-Expressed P2X 3
  • Purinergic Receptor 4
  • Purinoreceptor P2X6 3
  • P2X Purinoceptor 6 3
  • Purinoceptor P2X6 3

External Ids for P2RX6 Gene

Previous HGNC Symbols for P2RX6 Gene

  • P2RXL1

Previous GeneCards Identifiers for P2RX6 Gene

  • GC22P019699
  • GC22P021399
  • GC22P021406
  • GC22P004637
  • GC22P021415
  • GC22P021423
  • GC22P021430
  • GC22P021440
  • GC22P021364

Summaries for P2RX6 Gene

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 6) is a Protein Coding gene. Among its related pathways are Calcium signaling pathway and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is P2RX5.

UniProtKB/Swiss-Prot for P2RX6 Gene

  • Receptor for ATP that acts as a ligand-gated ion channel.

Tocris 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.

Gene Wiki entry for P2RX6 Gene

Additional gene information for P2RX6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P2RX6 Gene

Genomics for P2RX6 Gene

Regulatory Elements for P2RX6 Gene

Enhancers for P2RX6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H021013 1.1 ENCODE 19.1 +5.0 4975 3 HNRNPUL1 HDGF PKNOX1 MLX ARNT ARID4B YBX1 FEZF1 FOS SP3 TOP3B LZTR1 P2RX6 THAP7-AS1 MED15 DGCR8 LOC100420177 TRMT2A ABHD17AP4 PPIL2
GH22H021036 1.2 Ensembl ENCODE 12.6 +28.1 28108 2 HNRNPUL1 PKNOX1 ATF1 SIN3A GATA2 FOS ATF7 REST ZNF592 MEF2D P2RX6P MED15 P2RX6 THAP7 THAP7-AS1 TOP3B SERPIND1 SLC7A4 MIR649
GH22H021031 0.9 Ensembl ENCODE 12.4 +22.9 22887 2 HDGF HNRNPUL1 KLF1 MTA2 ZBED1 NR4A1 ZEB2 MCM7 EGR1 ID3 SLC7A4 P2RX6P MED15 P2RX6 TOP3B THAP7-AS1 ENSG00000226872
GH22H021039 0.9 ENCODE 10.6 +30.5 30474 0 HDAC1 HDGF PKNOX1 ATF1 NFRKB ZBTB40 ATF7 SMARCA5 CAVIN1 ZBTB2 THAP7 THAP7-AS1 P2RX6 P2RX6P MIR649
GH22H020978 1.6 Ensembl ENCODE dbSUPER 5.3 -28.2 -28244 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LZTR1 THAP7-AS1 LOC100420177 PI4KAP2 THAP7 TRMT2A ZDHHC8 ABHD17AP4 ENSG00000273342 ENSG00000273343
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P2RX6 on UCSC Golden Path with GeneCards custom track

Genomic Location for P2RX6 Gene

Chromosome:
22
Start:
21,009,808 bp from pter
End:
21,028,830 bp from pter
Size:
19,023 bases
Orientation:
Plus strand

Genomic View for P2RX6 Gene

Genes around P2RX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RX6 Gene

Proteins for P2RX6 Gene

  • Protein details for P2RX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15547-P2RX6_HUMAN
    Recommended name:
    P2X purinoceptor 6
    Protein Accession:
    O15547
    Secondary Accessions:
    • F6V3D7
    • Q32MB6
    • Q58F04
    • Q6IC33
    • Q9UL50

    Protein attributes for P2RX6 Gene

    Size:
    441 amino acids
    Molecular mass:
    48829 Da
    Quaternary structure:
    • Unlike most P2XRs, P2RX6 does not seem to form homotrimers or heterotrimers.
    SequenceCaution:
    • Sequence=AAF13303.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF13303.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAH33488.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI09210.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA22046.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA22047.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for P2RX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P2RX6 Gene

Post-translational modifications for P2RX6 Gene

No data available for DME Specific Peptides for P2RX6 Gene

Domains & Families for P2RX6 Gene

Gene Families for P2RX6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

O15547

UniProtKB/Swiss-Prot:

P2RX6_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX6: view

Function for P2RX6 Gene

Molecular function for P2RX6 Gene

UniProtKB/Swiss-Prot Function:
Receptor for ATP that acts as a ligand-gated ion channel.

Phenotypes From GWAS Catalog for P2RX6 Gene

Gene Ontology (GO) - Molecular Function for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001614 purinergic nucleotide receptor activity NAS 12088286
GO:0004888 transmembrane signaling receptor activity TAS 9242461
GO:0004931 extracellular ATP-gated cation channel activity NAS,IEA 12088286
GO:0005216 ion channel activity IEA --
GO:0005524 ATP binding NAS,IEA 12088286
genes like me logo Genes that share ontologies with P2RX6: view
genes like me logo Genes that share phenotypes with P2RX6: view

Animal Models for P2RX6 Gene

MGI Knock Outs for P2RX6:

Animal Model Products

  • Taconic Biosciences Mouse Models for P2RX6

CRISPR Products

miRNA for P2RX6 Gene

miRTarBase miRNAs that target P2RX6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for P2RX6
  • Applied Biological Materials Clones for P2RX6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P2RX6 Gene

Localization for P2RX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P2RX6 gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005639 integral component of nuclear inner membrane IBA --
GO:0005737 cytoplasm IDA 12088286
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with P2RX6: view

Pathways & Interactions for P2RX6 Gene

genes like me logo Genes that share pathways with P2RX6: view

Pathways by source for P2RX6 Gene

Gene Ontology (GO) - Biological Process for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9242461
GO:0006811 ion transport IEA --
GO:0006936 muscle contraction TAS 9242461
GO:0007165 signal transduction TAS 9242461
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with P2RX6: view

No data available for SIGNOR curated interactions for P2RX6 Gene

Drugs & Compounds for P2RX6 Gene

(6) Drugs for P2RX6 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KN-93 Pharma CaMKII inhibitor,selective and cometitive 0
A 438079 hydrochloride Pharma P2X7 receptor antagonist,competitive and selective, Competitive P2X7 antagonist 0
A 804598 Pharma P2X7 antagonist,potent and selective, Potent and selective P2X7 antagonist 0
BzATP triethylammonium salt Pharma Photoaffinity label for ATPase; also P2X7 agonist and P2X1/P2Y1 partial agonist 0
NF 449 Pharma purinergic receptor antagonist, Highly selective P2X1 antagonist 0

(1) Additional Compounds for P2RX6 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ATPgammaS tetralithium salt
93839-89-5

(5) Tocris Compounds for P2RX6 Gene

Compound Action Cas Number
A 438079 hydrochloride Competitive P2X7 antagonist 899431-18-6
A 804598 Potent and selective P2X7 antagonist 1125758-85-1
ATPgammaS tetralithium salt P2 agonist; ATP (Cat. No. 3245) analog 93839-89-5
BzATP triethylammonium salt Photoaffinity label for ATPase; also P2X7 agonist and P2X1/P2Y1 partial agonist 112898-15-4
NF 449 Highly selective P2X1 antagonist 627034-85-9

(1) ApexBio Compounds for P2RX6 Gene

Compound Action Cas Number
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
genes like me logo Genes that share compounds with P2RX6: view

Drug Products

Transcripts for P2RX6 Gene

Unigene Clusters for P2RX6 Gene

Purinergic receptor P2X, ligand-gated ion channel, 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for P2RX6
  • Applied Biological Materials Clones for P2RX6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX6 Gene

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: - -
SP6: - -
SP7:
SP8:

Relevant External Links for P2RX6 Gene

GeneLoc Exon Structure for
P2RX6
ECgene alternative splicing isoforms for
P2RX6

Expression for P2RX6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P2RX6 Gene

mRNA differential expression in normal tissues according to GTEx for P2RX6 Gene

This gene is overexpressed in Muscle - Skeletal (x14.5).

Protein differential expression in normal tissues from HIPED for P2RX6 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for P2RX6 Gene



Protein tissue co-expression partners for P2RX6 Gene

NURSA nuclear receptor signaling pathways regulating expression of P2RX6 Gene:

P2RX6

SOURCE GeneReport for Unigene cluster for P2RX6 Gene:

Hs.113275

mRNA Expression by UniProt/SwissProt for P2RX6 Gene:

O15547-P2RX6_HUMAN
Tissue specificity: Expressed predominantly in skeletal muscle.

Evidence on tissue expression from TISSUES for P2RX6 Gene

  • Muscle(4.5)
  • Nervous system(4.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with P2RX6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX6 Gene

Orthologs for P2RX6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P2RX6 34
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx6 33 16 34
  • 82.38 (n)
dog
(Canis familiaris)
Mammalia P2RX6 33 34
  • 81.03 (n)
rat
(Rattus norvegicus)
Mammalia P2rx6 33
  • 81 (n)
cow
(Bos Taurus)
Mammalia P2RX6 33 34
  • 80.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX6 34
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 24 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC429367 33
  • 66.95 (n)
P2RX6 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RX6 34
  • 58 (a)
OneToOne
Species where no ortholog for P2RX6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for P2RX6 Gene

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

Paralogs for P2RX6 Gene

Paralogs for P2RX6 Gene

(6) SIMAP similar genes for P2RX6 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for P2RX6 Gene

genes like me logo Genes that share paralogs with P2RX6: view

Variants for P2RX6 Gene

Sequence variations from dbSNP and Humsavar for P2RX6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000168107 -- 21,012,780(+) TGCTT(C/T)TCCTT intron-variant, upstream-variant-2KB
rs1000193781 -- 21,019,764(+) AGCCA(C/G)TGATA intron-variant
rs1000227427 -- 21,009,343(+) TTCTT(C/T)CCGTA nc-transcript-variant, upstream-variant-2KB
rs1000476368 -- 21,014,262(+) ACCGC(G/T)TGGCG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000529205 -- 21,018,770(+) ACCAC(A/G)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for P2RX6 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3647307 CNV loss 21293372
esv3647308 CNV loss 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv3563 CNV deletion 18451855
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv828961 CNV gain 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for P2RX6 Gene

Residual Variation Intolerance Score: 70.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P2RX6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
P2RX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX6 Gene

Disorders for P2RX6 Gene

Relevant External Links for P2RX6

Genetic Association Database (GAD)
P2RX6
Human Genome Epidemiology (HuGE) Navigator
P2RX6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P2RX6

No disorders were found for P2RX6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for P2RX6 Gene

Publications for P2RX6 Gene

  1. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. (PMID: 18852390) Palomino-Doza J … Keavney B (Hypertension (Dallas, Tex. : 1979) 2008) 3 22 45 60
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 60
  3. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. (PMID: 9242461) Urano T … Tokino T (Cancer research 1997) 2 3 4 60
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  5. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 45 60

Products for P2RX6 Gene

  • Addgene plasmids for P2RX6

Sources for P2RX6 Gene

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