Atlas of Genetics and Cytogenetics in Oncology and Haematology


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P2RX4 (purinergic receptor P2X 4)

Identity

Alias_namespurinergic receptor P2X
Alias_symbol (synonym)P2X4
Other aliasP2X4R
HGNC (Hugo) P2RX4
LocusID (NCBI) 5025
Atlas_Id 52083
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121209861 and ends at 121234106 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CRELD2 (22q13.33) / P2RX4 (12q24.31)KSR2 (12q24.22) / P2RX4 (12q24.31)P2RX4 (12q24.31) / P2RX7 (12q24.31)
PTPN1 (20q13.13) / P2RX4 (12q24.31)KSR2 12q24.22 / P2RX4 12q24.31PTPN1 20q13.13 / P2RX4 12q24.31

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)P2RX4   8535
Cards
Entrez_Gene (NCBI)P2RX4  5025  purinergic receptor P2X 4
AliasesP2X4; P2X4R
GeneCards (Weizmann)P2RX4
Ensembl hg19 (Hinxton)ENSG00000135124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135124 [Gene_View]  chr12:121209861-121234106 [Contig_View]  P2RX4 [Vega]
ICGC DataPortalENSG00000135124
TCGA cBioPortalP2RX4
AceView (NCBI)P2RX4
Genatlas (Paris)P2RX4
WikiGenes5025
SOURCE (Princeton)P2RX4
Genetics Home Reference (NIH)P2RX4
Genomic and cartography
GoldenPath hg38 (UCSC)P2RX4  -     chr12:121209861-121234106 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P2RX4  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblP2RX4 - 12q24.31 [CytoView hg19]  P2RX4 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIP2RX4 [Mapview hg19]  P2RX4 [Mapview hg38]
OMIM600846   
Gene and transcription
Genbank (Entrez)AF000234 AF012903 AK225604 AK293599 AK293660
RefSeq transcript (Entrez)NM_001256796 NM_001261397 NM_001261398 NM_002560 NM_175567 NM_175568
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P2RX4
Cluster EST : UnigeneHs.321709 [ NCBI ]
CGAP (NCI)Hs.321709
Alternative Splicing GalleryENSG00000135124
Gene ExpressionP2RX4 [ NCBI-GEO ]   P2RX4 [ EBI - ARRAY_EXPRESS ]   P2RX4 [ SEEK ]   P2RX4 [ MEM ]
Gene Expression Viewer (FireBrowse)P2RX4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5025
GTEX Portal (Tissue expression)P2RX4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99571
Splice isoforms : SwissVarQ99571
PhosPhoSitePlusQ99571
Domaine pattern : Prosite (Expaxy)P2X_RECEPTOR (PS01212)   
Domains : Interpro (EBI)P2X4_purnocptor    P2X_extracellular_dom    P2X_purnocptor   
Domain families : Pfam (Sanger)P2X_receptor (PF00864)   
Domain families : Pfam (NCBI)pfam00864   
Conserved Domain (NCBI)P2RX4
DMDM Disease mutations5025
Blocks (Seattle)P2RX4
SuperfamilyQ99571
Human Protein AtlasENSG00000135124
Peptide AtlasQ99571
HPRD09017
IPIIPI00293327   IPI01013466   IPI01013886   IPI01012674   IPI01013067   IPI00478728   IPI01012219   
Protein Interaction databases
DIP (DOE-UCLA)Q99571
IntAct (EBI)Q99571
FunCoupENSG00000135124
BioGRIDP2RX4
STRING (EMBL)P2RX4
ZODIACP2RX4
Ontologies - Pathways
QuickGOQ99571
Ontology : AmiGOpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  tissue homeostasis  regulation of sodium ion transport  extracellular ATP-gated cation channel activity  receptor binding  copper ion binding  protein binding  ATP binding  integral component of nuclear inner membrane  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  transport  signal transduction  blood coagulation  drug binding  regulation of blood pressure  zinc ion binding  positive regulation of calcium ion transport into cytosol  positive regulation of calcium ion transport into cytosol  negative regulation of cardiac muscle hypertrophy  postsynaptic density  membrane  neuronal action potential  sensory perception of pain  cell junction  positive regulation of prostaglandin secretion  response to ATP  ion transmembrane transport  response to fluid shear stress  purinergic nucleotide receptor signaling pathway  endothelial cell activation  protein homodimerization activity  neuronal cell body  terminal bouton  dendritic spine  positive regulation of blood vessel endothelial cell migration  cadherin binding  positive regulation of nitric oxide biosynthetic process  perinuclear region of cytoplasm  positive regulation of calcium-mediated signaling  positive regulation of calcium-mediated signaling  protein homooligomerization  membrane depolarization  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  relaxation of cardiac muscle  excitatory postsynaptic potential  extracellular exosome  cellular response to ATP  apoptotic signaling pathway  cation transmembrane transport  positive regulation of endothelial cell chemotaxis  
Ontology : EGO-EBIpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  tissue homeostasis  regulation of sodium ion transport  extracellular ATP-gated cation channel activity  receptor binding  copper ion binding  protein binding  ATP binding  integral component of nuclear inner membrane  lysosomal membrane  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  transport  signal transduction  blood coagulation  drug binding  regulation of blood pressure  zinc ion binding  positive regulation of calcium ion transport into cytosol  positive regulation of calcium ion transport into cytosol  negative regulation of cardiac muscle hypertrophy  postsynaptic density  membrane  neuronal action potential  sensory perception of pain  cell junction  positive regulation of prostaglandin secretion  response to ATP  ion transmembrane transport  response to fluid shear stress  purinergic nucleotide receptor signaling pathway  endothelial cell activation  protein homodimerization activity  neuronal cell body  terminal bouton  dendritic spine  positive regulation of blood vessel endothelial cell migration  cadherin binding  positive regulation of nitric oxide biosynthetic process  perinuclear region of cytoplasm  positive regulation of calcium-mediated signaling  positive regulation of calcium-mediated signaling  protein homooligomerization  membrane depolarization  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  relaxation of cardiac muscle  excitatory postsynaptic potential  extracellular exosome  cellular response to ATP  apoptotic signaling pathway  cation transmembrane transport  positive regulation of endothelial cell chemotaxis  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction   
NDEx NetworkP2RX4
Atlas of Cancer Signalling NetworkP2RX4
Wikipedia pathwaysP2RX4
Orthology - Evolution
OrthoDB5025
GeneTree (enSembl)ENSG00000135124
Phylogenetic Trees/Animal Genes : TreeFamP2RX4
HOVERGENQ99571
HOGENOMQ99571
Homologs : HomoloGeneP2RX4
Homology/Alignments : Family Browser (UCSC)P2RX4
Gene fusions - Rearrangements
Fusion : MitelmanKSR2/P2RX4 [12q24.22/12q24.31]  [t(12;12)(q24;q24)]  
Fusion : MitelmanPTPN1/P2RX4 [20q13.13/12q24.31]  [t(12;20)(q24;q13)]  
Fusion: TCGAKSR2 12q24.22 P2RX4 12q24.31 BRCA
Fusion: TCGAPTPN1 20q13.13 P2RX4 12q24.31 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP2RX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P2RX4
dbVarP2RX4
ClinVarP2RX4
1000_GenomesP2RX4 
Exome Variant ServerP2RX4
ExAC (Exome Aggregation Consortium)P2RX4 (select the gene name)
Genetic variants : HAPMAP5025
Genomic Variants (DGV)P2RX4 [DGVbeta]
DECIPHERP2RX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP2RX4 
Mutations
ICGC Data PortalP2RX4 
TCGA Data PortalP2RX4 
Broad Tumor PortalP2RX4
OASIS PortalP2RX4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP2RX4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP2RX4
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 P2RX4
DgiDB (Drug Gene Interaction Database)P2RX4
DoCM (Curated mutations)P2RX4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P2RX4 (select a term)
intoGenP2RX4
Cancer3DP2RX4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600846   
Orphanet
MedgenP2RX4
Genetic Testing Registry P2RX4
NextProtQ99571 [Medical]
TSGene5025
GENETestsP2RX4
Huge Navigator P2RX4 [HugePedia]
snp3D : Map Gene to Disease5025
BioCentury BCIQP2RX4
ClinGenP2RX4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5025
Chemical/Pharm GKB GenePA32864
Clinical trialP2RX4
Miscellaneous
canSAR (ICR)P2RX4 (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP2RX4
EVEXP2RX4
GoPubMedP2RX4
iHOPP2RX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:29:58 CEST 2017

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