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P2RX4 (purinergic receptor P2X 4)

Identity

Alias (NCBI)P2X4
P2X4R
HGNC (Hugo) P2RX4
HGNC Alias symbP2X4
HGNC Previous namepurinergic receptor P2X, ligand-gated ion channel, 4
LocusID (NCBI) 5025
Atlas_Id 52083
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 121210129 and ends at 121234106 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    purinergic receptor P2X 4
AliasesP2X4; P2X4R
GeneCards (Weizmann)P2RX4
Ensembl hg19 (Hinxton)ENSG00000135124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135124 [Gene_View]  ENSG00000135124 [Sequence]  chr12:121210129-121234106 [Contig_View]  P2RX4 [Vega]
ICGC DataPortalENSG00000135124
TCGA cBioPortalP2RX4
AceView (NCBI)P2RX4
Genatlas (Paris)P2RX4
SOURCE (Princeton)P2RX4
Genetics Home Reference (NIH)P2RX4
Genomic and cartography
GoldenPath hg38 (UCSC)P2RX4  -     chr12:121210129-121234106 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P2RX4  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathP2RX4 - 12q24.31 [CytoView hg19]  P2RX4 - 12q24.31 [CytoView hg38]
ImmunoBaseENSG00000135124
Genome Data Viewer NCBIP2RX4 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)P2RX4
Gene ExpressionP2RX4 [ NCBI-GEO ]   P2RX4 [ EBI - ARRAY_EXPRESS ]   P2RX4 [ SEEK ]   P2RX4 [ MEM ]
Gene Expression Viewer (FireBrowse)P2RX4 [ Firebrowse - Broad ]
GenevisibleExpression of P2RX4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5025
GTEX Portal (Tissue expression)P2RX4
Human Protein AtlasENSG00000135124-P2RX4 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ99571
Domaine pattern : Prosite (Expaxy)P2X_RECEPTOR (PS01212)   
Domains : Interpro (EBI)P2X4_purnocptor    P2X_extracellular_dom_sf    P2X_purnocptor   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)P2RX4
SuperfamilyQ99571
AlphaFold pdb e-kbQ99571   
Human Protein Atlas [tissue]ENSG00000135124-P2RX4 [tissue]
HPRD09017
Protein Interaction databases
DIP (DOE-UCLA)Q99571
IntAct (EBI)Q99571
BioGRIDP2RX4
STRING (EMBL)P2RX4
ZODIACP2RX4
Ontologies - Pathways
QuickGOQ99571
Ontology : AmiGOpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  tissue homeostasis  regulation of sodium ion transport  response to ischemia  extracellularly ATP-gated cation channel activity  extracellularly ATP-gated cation channel activity  signaling receptor binding  copper ion binding  protein binding  ATP binding  integral component of nuclear inner membrane  lysosomal membrane  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  integral component of plasma membrane  signal transduction  blood coagulation  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  membrane  neuronal action potential  sensory perception of pain  calcium-mediated signaling  cell junction  positive regulation of prostaglandin secretion  response to ATP  ion transmembrane transport  response to fluid shear stress  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  endothelial cell activation  identical protein binding  neuronal cell body  terminal bouton  dendritic spine  positive regulation of blood vessel endothelial cell migration  cell body  cadherin binding  positive regulation of nitric oxide biosynthetic process  behavioral response to pain  perinuclear region of cytoplasm  response to axon injury  positive regulation of calcium-mediated signaling  positive regulation of calcium-mediated signaling  regulation of chemotaxis  sensory perception of touch  positive regulation of protein kinase B signaling  membrane depolarization  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  relaxation of cardiac muscle  excitatory postsynaptic potential  extracellular exosome  calcium ion transmembrane transport  cellular response to zinc ion  cellular response to ATP  apoptotic signaling pathway  ligand-gated calcium channel activity  ligand-gated calcium channel activity  regulation of ruffle assembly  microglial cell migration  positive regulation of microglial cell migration  positive regulation of endothelial cell chemotaxis  
Ontology : EGO-EBIpurinergic nucleotide receptor activity  purinergic nucleotide receptor activity  tissue homeostasis  regulation of sodium ion transport  response to ischemia  extracellularly ATP-gated cation channel activity  extracellularly ATP-gated cation channel activity  signaling receptor binding  copper ion binding  protein binding  ATP binding  integral component of nuclear inner membrane  lysosomal membrane  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  integral component of plasma membrane  signal transduction  blood coagulation  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  membrane  neuronal action potential  sensory perception of pain  calcium-mediated signaling  cell junction  positive regulation of prostaglandin secretion  response to ATP  ion transmembrane transport  response to fluid shear stress  purinergic nucleotide receptor signaling pathway  purinergic nucleotide receptor signaling pathway  endothelial cell activation  identical protein binding  neuronal cell body  terminal bouton  dendritic spine  positive regulation of blood vessel endothelial cell migration  cell body  cadherin binding  positive regulation of nitric oxide biosynthetic process  behavioral response to pain  perinuclear region of cytoplasm  response to axon injury  positive regulation of calcium-mediated signaling  positive regulation of calcium-mediated signaling  regulation of chemotaxis  sensory perception of touch  positive regulation of protein kinase B signaling  membrane depolarization  positive regulation of calcium ion transport  regulation of cardiac muscle contraction  relaxation of cardiac muscle  excitatory postsynaptic potential  extracellular exosome  calcium ion transmembrane transport  cellular response to zinc ion  cellular response to ATP  apoptotic signaling pathway  ligand-gated calcium channel activity  ligand-gated calcium channel activity  regulation of ruffle assembly  microglial cell migration  positive regulation of microglial cell migration  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
Homologs : HomoloGeneP2RX4
Homology/Alignments : Family Browser (UCSC)P2RX4
Gene fusions - Rearrangements
Fusion : MitelmanKSR2/P2RX4 [12q24.22/12q24.31]  
Fusion : MitelmanPTPN1/P2RX4 [20q13.13/12q24.31]  
Fusion : QuiverP2RX4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP2RX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P2RX4
dbVarP2RX4
ClinVarP2RX4
MonarchP2RX4
1000_GenomesP2RX4 
Exome Variant ServerP2RX4
GNOMAD BrowserENSG00000135124
Varsome BrowserP2RX4
ACMGP2RX4 variants
VarityQ99571
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]  
Somatic Mutations in Cancer : COSMIC3DP2RX4
Mutations and Diseases : HGMDP2RX4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaP2RX4
DgiDB (Drug Gene Interaction Database)P2RX4
DoCM (Curated mutations)P2RX4
CIViC (Clinical Interpretations of Variants in Cancer)P2RX4
Cancer3DP2RX4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600846   
Orphanet
DisGeNETP2RX4
MedgenP2RX4
Genetic Testing Registry P2RX4
NextProtQ99571 [Medical]
GENETestsP2RX4
Target ValidationP2RX4
Huge Navigator P2RX4 [HugePedia]
ClinGenP2RX4
Clinical trials, drugs, therapy
MyCancerGenomeP2RX4
Protein Interactions : CTDP2RX4
Pharm GKB GenePA32864
PharosQ99571
Clinical trialP2RX4
Miscellaneous
canSAR (ICR)P2RX4
HarmonizomeP2RX4
DataMed IndexP2RX4
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXP2RX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:03 CEST 2021

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