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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 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 6 2
  • Purinergic Receptor P2X-Like 1 4
  • Skeletal Muscle-Expressed P2X 3
  • Purinoreceptor P2X6 3
  • Purinergic Receptor 4
  • 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 Platelet homeostasis and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is P2RX5-TAX1BP3.

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

GeneHancer (GH) Regulatory Elements for P2RX6 Gene

Promoters and enhancers for P2RX6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J021013 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 669.1 +5.0 4975 3.2 HDGF HNRNPUL1 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A YBX1 FEZF1 P2RX6 TUBA3FP ENSG00000284130 TOP3B LZTR1 TRMT2A MED15 DGCR8 THAP7-AS1 PPIL2
GH22J021009 Enhancer 0.9 ENCODE 650.7 0.0 -1 0.2 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF143 NFKBIZ RXRA NFYC MXD4 ENSG00000284060 P2RX6 PIR31116 TUBA3FP THAP7-AS1
GH22J021010 Enhancer 0.2 ENCODE 650.7 +0.8 779 0.2 P2RX6 ENSG00000284060 THAP7-AS1 ENSG00000284130 TUBA3FP
GH22J021031 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 12.4 +22.9 22887 2.2 HDGF HNRNPUL1 MEIS2 KLF1 MTA2 CBFA2T3 ZEB2 MITF MCM7 SP1 SLC7A4 MIR649 ENSG00000226872 P2RX6P MED15 P2RX6 TOP3B THAP7-AS1
GH22J021036 Enhancer 1.1 Ensembl ENCODE 12.6 +28.1 28107 2.1 HNRNPUL1 PKNOX1 ATF1 NEUROD1 SIN3A GATA2 E2F8 FOS ATF7 RXRA P2RX6P MED15 P2RX6 THAP7-AS1 THAP7 TOP3B SERPIND1 SLC7A4 MIR649 ENSG00000226872
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for P2RX6 Gene

Genomic Locations for P2RX6 Gene
chr22:21,009,808-21,028,830
(GRCh38/hg38)
Size:
19,023 bases
Orientation:
Plus strand
chr22:21,364,097-21,383,119
(GRCh37/hg19)
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 extracellularly ATP-gated cation channel activity IEA,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<tm2b(EUCOMM)Wtsi>
  • P2rx6 P2rx6<tm1Dgen>

Animal Model Products

  • Taconic Biosciences Mouse Models for P2RX6

miRNA for P2RX6 Gene

miRTarBase miRNAs that target P2RX6

Clone Products

  • Addgene plasmids 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
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:0006811 ion transport IEA --
GO:0006812 cation transport IBA --
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: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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
Suramin hexasodium salt Pharma Non-selective P2 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
genes like me logo Genes that share compounds with P2RX6: view

Transcripts for P2RX6 Gene

Unigene Clusters for P2RX6 Gene

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

Clone Products

  • Addgene plasmids 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
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 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

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 16 34 33
  • 82.38 (n)
dog
(Canis familiaris)
Mammalia P2RX6 34 33
  • 81.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia P2rx6 33
  • 81 (n)
cow
(Bos Taurus)
Mammalia P2RX6 34 33
  • 80.41 (n)
OneToOne
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)
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

Sequence variations from dbSNP and Humsavar for P2RX6 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000168107 -- 21,012,780(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000193781 -- 21,019,764(+) G/C intron_variant
rs1000227427 -- 21,009,343(+) C/T upstream_transcript_variant
rs1000476368 -- 21,014,262(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000529205 -- 21,018,770(+) G/A 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)

Additional Variant Information for P2RX6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for P2RX6 Gene

Additional Disease Information for P2RX6

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

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 44 58
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 58
  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 58
  4. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 44 58
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58

Products for P2RX6 Gene

Sources for P2RX6 Gene

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