P2RX6 Gene (Protein Coding)

Purinergic Receptor P2X 6

GC22P021015
GIFtS:
43
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 splici... See more...

Aliases for P2RX6 Gene

Aliases for P2RX6 Gene

  • Purinergic Receptor P2X 6 2 3 5
  • P2X6 2 3 4
  • P2XM 2 3 4
  • Purinergic Receptor P2X-Like 1, Orphan Receptor 2 3
  • P2X Purinoceptor 6 3 4
  • ATP Receptor 3 4
  • P2RXL1 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
  • Purinoreceptor P2X6 3
  • Purinergic Receptor 4
  • Purinoceptor P2X6 3
  • MGC129625 2
  • P2RX6 5

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. Diseases associated with P2RX6 include Schizophrenia 5 and Heparin Cofactor Ii Deficiency. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Platelet homeostasis. Gene Ontology (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 Summary for P2RX6 Gene

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 , Rfam classification and piRNA Summary for P2RX6 Gene

Genomics for P2RX6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for P2RX6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around P2RX6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for P2RX6

Top Transcription factor binding sites by QIAGEN in the P2RX6 gene promoter:
  • c-Ets-1
  • CUTL1
  • Lmo2
  • MIF-1
  • MyoD
  • Olf-1
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b

Genomic Locations for P2RX6 Gene

Latest Assembly
chr22:21,009,699-21,028,830
(GRCh38/hg38)
Size:
19,132 bases
Orientation:
Plus strand

Previous Assembly
chr22:21,369,442-21,382,302
(GRCh37/hg19 by Entrez Gene)
Size:
12,861 bases
Orientation:
Plus strand

chr22:21,364,097-21,383,119
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for P2RX6 Gene

Proteins for P2RX6 Gene

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  • 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=Truncated N-terminus.; 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI09210.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA22046.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA22047.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for P2RX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P2RX6 Gene

Protein Expression for P2RX6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for P2RX6 Gene

Other Protein References for P2RX6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for P2RX6
  • Boster Bio Antibodies for P2RX6

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

Protein Domains for P2RX6 Gene

InterPro:
Blocks:
  • ATP P2X receptor
  • P2X6 purinoceptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for P2RX6 Gene

GenScript: Design optimal peptide antigens:
  • Purinergic receptor P2X-like 1, orphan receptor, isoform CRA_b (D3DX42_HUMAN)
  • P2X purinoceptor (F6V3D7_HUMAN)
  • Purinergic receptor P2X-like 1 (P2RX6_HUMAN)
  • P2X purinoceptor (Q05BG9_HUMAN)
  • P2X purinoceptor (Q32MB6_HUMAN)

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

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  6. Cell Lines for research

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 IEA,NAS 12088286
GO:0004888 transmembrane signaling receptor activity TAS 9242461
GO:0004931 extracellularly ATP-gated cation channel activity IBA,NAS 12088286
GO:0005216 ion channel activity IEA --
GO:0005524 ATP binding IEA,NAS 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:
  • P2rx6 P2rx6<tm1Dgen>
  • P2rx6 P2rx6<tm2b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for P2RX6

miRNA for P2RX6 Gene

miRTarBase miRNAs that target P2RX6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX6

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
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

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 21873635
GO:0005737 cytoplasm IDA 12088286
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9242461
GO:0014069 postsynaptic density 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

1 Qiagen pathway for P2RX6 Gene
  • Intracellular Calcium Signaling

Gene Ontology (GO) - Biological Process for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006936 muscle contraction TAS 9242461
GO:0007165 signal transduction TAS 9242461
GO:0007596 blood coagulation TAS --
GO:0033198 response to ATP IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Promethazine Approved, Investigational Pharma Target, inhibitor 492
KN-93 Pharma CaMKII inhibitor,selective and cometitive 0
2-Methylthioadenosine triphosphate tetrasodium salt Pharma P2 purinergic agonist 0
NF 157 Pharma Selective P2Y11/P2X1 antagonist 0
PPADS tetrasodium salt Pharma P2 purinergic 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
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
ATPgammaS tetralithium salt P2 agonist; ATP (Cat. No. 3245) analog 93839-89-5
NF 157 Selective P2Y11/P2X1 antagonist 104869-26-3
PPADS tetrasodium salt P2 purinergic antagonist 192575-19-2
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(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 for research

Transcripts for P2RX6 Gene

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mRNA/cDNA for P2RX6 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for P2RX6

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

Expression for P2RX6 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for P2RX6 Gene
mRNA expression by GTEx for P2RX6 GenemRNA expression by BioGPS 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 and MOPED for P2RX6 Gene



Protein tissue co-expression partners for P2RX6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Heart(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with P2RX6: view

Primer products for research

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 31
  • 99 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia P2rx6 30 17 31
  • 82.38 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia P2RX6 30 31
  • 81.03 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia P2rx6 30
  • 81 (n)
Cow
(Bos Taurus)
 Mammalia P2RX6 30 31
  • 80.41 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia P2RX6 31
  • 65 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 24 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves LOC429367 30
  • 66.95 (n)
P2RX6 31
  • 55 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia P2RX6 31
  • 58 (a)
 OneToOne
Species where no ortholog for P2RX6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for P2RX6: view image

Paralogs for P2RX6 Gene

Paralogs for P2RX6 Gene

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

  • P2RX6_HUMAN
  • E7ES48_HUMAN
  • H7C140_HUMAN
  • H7C266_HUMAN
  • H7C2V4_HUMAN
  • Q05BG9_HUMAN
  • Q6P1Z3_HUMAN

Pseudogenes.org Pseudogenes for P2RX6 Gene

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

Variants for P2RX6 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for P2RX6 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs2006846 - p.Val38Gly
rs2277838 - p.Arg242His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for P2RX6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for P2RX6 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for P2RX6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for P2RX6 Gene - From: COP

Disorder Aliases PubMed IDs
schizophrenia 5
  • sczd5
heparin cofactor ii deficiency
  • thrombophilia due to heparin cofactor ii deficiency; thph10
- elite association - COSMIC cancer census association via MalaCards
Search P2RX6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for P2RX6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with P2RX6: view

No data available for 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 23 41
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  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
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 41
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41

ExternalLinks

View latest publications for P2RX6 gene in Mastermind

Products for P2RX6 Gene

  • Addgene plasmids for P2RX6

Sources for P2RX6 Gene