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Aliases for P2RX6 Gene

Aliases for P2RX6 Gene

  • Purinergic Receptor P2X 6 2 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 6 2 3
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 6 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-Like 1 4
  • Skeletal Muscle-Expressed P2X 3
  • Purinergic Receptor 4
  • Purinoreceptor P2X6 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. Diseases associated with P2RX6 include Borna Disease. Among its related pathways are CREB Pathway and Calcium signaling pathway. GO annotations related to this gene include identical protein binding and ion channel activity. An important paralog of this gene is P2RX1.

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for P2RX6 Gene at MOPED

Post-translational modifications for P2RX6 Gene

Other Protein References for P2RX6 Gene

No data available for DME Specific Peptides for P2RX6 Gene

Domains & Families for P2RX6 Gene

Gene Families for P2RX6 Gene

Protein Domains for P2RX6 Gene

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.

Gene Ontology (GO) - Molecular Function for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015267 channel activity TAS 9242461
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

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
Jensen Localization Image for P2RX6 Gene COMPARTMENTS Subcellular localization image for P2RX6 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 2
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

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:0016020 membrane IEA --
GO:0043025 neuronal cell body 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

Interacting Proteins for P2RX6 Gene

Gene Ontology (GO) - Biological Process for P2RX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051291 protein heterooligomerization IEA --
GO:0098655 cation transmembrane transport 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

(2) Drugs for P2RX6 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KN-93 Pharma CaMKII inhibitor,selective and cometitive 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Methylthioadenosine triphosphate tetrasodium salt
100020-57-3
alpha,beta-Methyleneadenosine 5'-triphosphate trisodium salt
1343364-54-4
ATP disodium salt
987-65-5
ATPgammaS tetralithium salt
93839-89-5
BzATP triethylammonium salt
112898-15-4

(5) Tocris Compounds for P2RX6 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
alpha,beta-Methyleneadenosine 5'-triphosphate trisodium salt P2 agonist 1343364-54-4
ATP disodium salt P2 agonist 987-65-5
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

(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

Transcripts for P2RX6 Gene

Unigene Clusters for P2RX6 Gene

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

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 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



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.
genes like me logo Genes that share expression patterns with P2RX6: view

Protein tissue co-expression partners for P2RX6 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia P2RX6 35
  • 80.41 (n)
  • 78.05 (a)
P2RX6 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P2RX6 35
  • 81.03 (n)
  • 78.33 (a)
P2RX6 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx6 35
  • 82.38 (n)
  • 82.12 (a)
P2rx6 16
P2rx6 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P2rx6 35
  • 81 (n)
  • 79.79 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 24 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX6 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P2RX6 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC429367 35
  • 66.95 (n)
  • 61.14 (a)
P2RX6 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P2RX6 36
  • 58 (a)
OneToOne
Species with no ortholog for P2RX6:
  • 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
rs2277838 - 21,023,361(+) GTTCC(A/G)CATTG nc-transcript-variant, reference, missense
VAR_057664 -
rs2106542 -- 21,022,959(+) GCCAG(A/T)GTGTG nc-transcript-variant, reference, missense
rs2251893 -- 21,016,364(+) AGGCC(A/G)AGGCA intron-variant
rs2255371 -- 21,021,549(+) AATCA(C/G/T)GACGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv436864 CNV Insertion 17901297
nsv914390 CNV Gain 21882294
nsv523162 CNV Loss 19592680
esv2678175 CNV Deletion 23128226
nsv914419 CNV Gain 21882294
nsv834141 CNV Loss 17160897
nsv914423 CNV Gain 21882294
nsv828960 CNV Loss 20364138
nsv471185 CNV Loss 18288195
nsv834142 CNV Gain 17160897
nsv828961 CNV Gain 20364138
nsv3563 CNV Loss 18451855
nsv914429 CNV Gain 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for P2RX6 Gene

Disorders for P2RX6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for P2RX6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
borna disease
  • enzootic encephalomyelitis
- elite association - COSMIC cancer census association via MalaCards
Search P2RX6 in MalaCards View complete list of genes associated with diseases

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
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. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 67
  2. Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. (PMID: 18852390) Palomino-Doza J. … Keavney B. (Hypertension 2008) 3 23
  3. Cloning of P2XM, a novel human P2X receptor gene regulated by p53. (PMID: 9242461) Urano T. … Tokino T. (Cancer Res. 1997) 2 3
  4. Cloning OF P2X5 and P2X6 receptors and the distribution and properties of an extended family of ATP-gated ion channels. (PMID: 8786426) Collo G. … Buell G. (J. Neurosci. 1996) 2 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for P2RX6 Gene

Sources for P2RX6 Gene

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