Atlas of Genetics and Cytogenetics in Oncology and Haematology


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P2RX6 (purinergic receptor P2X 6)

Identity

Other namesP2RXL1
P2X6
P2XM
HGNC (Hugo) P2RX6
LocusID (NCBI) 9127
Atlas_Id 41624
Location 22q11.21
Location_base_pair Starts at 21369442 and ends at 21382302 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)P2RX6   8538
Cards
Entrez_Gene (NCBI)P2RX6  9127  purinergic receptor P2X 6
AliasesP2RXL1; P2X6; P2XM
GeneCards (Weizmann)P2RX6
Ensembl hg19 (Hinxton)ENSG00000099957 [Gene_View]  chr22:21369442-21382302 [Contig_View]  P2RX6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000099957 [Gene_View]  chr22:21369442-21382302 [Contig_View]  P2RX6 [Vega]
ICGC DataPortalENSG00000099957
TCGA cBioPortalP2RX6
AceView (NCBI)P2RX6
Genatlas (Paris)P2RX6
WikiGenes9127
SOURCE (Princeton)P2RX6
Genomic and cartography
GoldenPath hg19 (UCSC)P2RX6  -     chr22:21369442-21382302 +  22q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)P2RX6  -     22q11.21   [Description]    (hg38-Dec_2013)
EnsemblP2RX6 - 22q11.21 [CytoView hg19]  P2RX6 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIP2RX6 [Mapview hg19]  P2RX6 [Mapview hg38]
OMIM608077   
Gene and transcription
Genbank (Entrez)AB002058 AF065385 AK309079 BC033488 BC047287
RefSeq transcript (Entrez)NM_001159554 NM_005446
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)P2RX6
Cluster EST : UnigeneHs.113275 [ NCBI ]
CGAP (NCI)Hs.113275
Alternative Splicing GalleryENSG00000099957
Gene ExpressionP2RX6 [ NCBI-GEO ]   P2RX6 [ EBI - ARRAY_EXPRESS ]   P2RX6 [ SEEK ]   P2RX6 [ MEM ]
Gene Expression Viewer (FireBrowse)P2RX6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9127
GTEX Portal (Tissue expression)P2RX6
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15547 (Uniprot)
NextProtO15547  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15547
Splice isoforms : SwissVarO15547 (Swissvar)
PhosPhoSitePlusO15547
Domaine pattern : Prosite (Expaxy)P2X_RECEPTOR (PS01212)   
Domains : Interpro (EBI)P2X6_purnocptor    P2X_extracellular_dom    P2X_purnocptor   
Domain families : Pfam (Sanger)P2X_receptor (PF00864)   
Domain families : Pfam (NCBI)pfam00864   
DMDM Disease mutations9127
Blocks (Seattle)P2RX6
SuperfamilyO15547
Human Protein AtlasENSG00000099957
Peptide AtlasO15547
HPRD08490
Protein Interaction databases
DIP (DOE-UCLA)O15547
IntAct (EBI)O15547
FunCoupENSG00000099957
BioGRIDP2RX6
STRING (EMBL)P2RX6
ZODIACP2RX6
Ontologies - Pathways
QuickGOO15547
Ontology : AmiGOpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  transmembrane signaling receptor activity  extracellular ATP-gated cation channel activity  extracellular ATP-gated cation channel activity  ATP binding  integral component of nuclear inner membrane  cytoplasm  plasma membrane  integral component of plasma membrane  transport  muscle contraction  signal transduction  blood coagulation  postsynaptic density  channel activity  cell junction  response to ATP  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  identical protein binding  neuronal cell body  dendritic spine  protein homooligomerization  protein heterooligomerization  cation transmembrane transport  
Ontology : EGO-EBIpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  transmembrane signaling receptor activity  extracellular ATP-gated cation channel activity  extracellular ATP-gated cation channel activity  ATP binding  integral component of nuclear inner membrane  cytoplasm  plasma membrane  integral component of plasma membrane  transport  muscle contraction  signal transduction  blood coagulation  postsynaptic density  channel activity  cell junction  response to ATP  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  identical protein binding  neuronal cell body  dendritic spine  protein homooligomerization  protein heterooligomerization  cation transmembrane transport  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction   
NDEx Network
Atlas of Cancer Signalling NetworkP2RX6
Wikipedia pathwaysP2RX6
Orthology - Evolution
OrthoDB9127
GeneTree (enSembl)ENSG00000099957
Phylogenetic Trees/Animal Genes : TreeFamP2RX6
Homologs : HomoloGeneP2RX6
Homology/Alignments : Family Browser (UCSC)P2RX6
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerP2RX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P2RX6
dbVarP2RX6
ClinVarP2RX6
1000_GenomesP2RX6 
Exome Variant ServerP2RX6
ExAC (Exome Aggregation Consortium)P2RX6 (select the gene name)
Genetic variants : HAPMAP9127
Genomic Variants (DGV)P2RX6 [DGVbeta]
Mutations
ICGC Data PortalP2RX6 
TCGA Data PortalP2RX6 
Broad Tumor PortalP2RX6
OASIS PortalP2RX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP2RX6 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P2RX6
DgiDB (Drug Gene Interaction Database)P2RX6
DoCM (Curated mutations)P2RX6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P2RX6 (select a term)
intoGenP2RX6
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:21369442-21382302  ENSG00000099957
CONAN: Copy Number AnalysisP2RX6 
Mutations and Diseases : HGMDP2RX6
OMIM608077   
MedgenP2RX6
Genetic Testing Registry P2RX6
NextProtO15547 [Medical]
TSGene9127
GENETestsP2RX6
Huge Navigator P2RX6 [HugePedia]
snp3D : Map Gene to Disease9127
BioCentury BCIQP2RX6
ClinGenP2RX6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9127
Chemical/Pharm GKB GenePA162398523
Clinical trialP2RX6
Miscellaneous
canSAR (ICR)P2RX6 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP2RX6
EVEXP2RX6
GoPubMedP2RX6
iHOPP2RX6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:14:43 CEST 2016

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