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FLASH GENE
Symbol P2RX4 contributors: mct - updated : 11-02-2012
HGNC name purinergic receptor P2X, ligand-gated ion channel, 4
HGNC id 8535
Location 12q24.32      Physical location : 121.647.663 - 121.671.907
Synonym name
  • P2X receptor, subunit 4
  • purinergic receptor P2X4
  • Synonym symbol(s) P2X4, P2X4R
    DNA
    TYPE functioning gene
    STRUCTURE 24.25 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • a single nucleotide polymorphism with minor allele frequency of 0.23 was found within the GATA-2 binding site of P2RX4 promoter region which significantly reduced gene transcription
  • MAPPING cloned Y linked N status provisional
    Physical map
    COX6A1 12q24.2 cytochrome c oxidase subunit VIa polypeptide 1 HSPC132 12q24.31 hypothetical protein HSPC132 LOC387891 12 LOC387891 SFRS9 12q24.31 splicing factor, arginine/serine-rich 9 DNCL1 12q24.23 dynein, cytoplasmic, light polypeptide 1 MGC4767 12q24.31 hypothetical protein MGC4767 RNF10 12q24.2-q24.3 ring finger protein 10 POP5 12q24.31 RNase MRP/RNase P protein-like LOC390362 12 similar to 60S ribosomal protein L11 CABP1 12q24.2-q24.3 calcium binding protein 1 (calbrain) KIAA0152 12q24.31 calcium binding protein 1 (calbrain) ACADS 12q24.31-q24.32 acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain LOC387892 12 LOC387892 MGC5139 12q24.31 hypothetical protein MGC5139 SPPL3 12q24.31 SPPL3 protein LOC390363 12 similar to 60S ribosomal protein L12 FLJ38690 12q24.31 hypothetical protein FLJ38690 TCF1 12q24.2 transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor FLJ12448 12q hypothetical protein FLJ12448 OASL 12q24.2 2'-5'-oligoadenylate synthetase-like LOC390364 12 similar to 60S ribosomal protein L10 (QM protein homolog) P2RX7 12q24.2-q24.31 purinergic receptor P2X, ligand-gated ion channel, 7 P2RX4 12q24.32 purinergic receptor P2X, ligand-gated ion channel, 4 CAMKK2 12q24.32-q24.33 calcium/calmodulin-dependent protein kinase kinase 2, beta ANAPC5 12q24.2-q24.32 anaphase promoting complex subunit 5 RNF34 12q24.31 ring finger protein 34 FBXL10 12q24.31 F-box and leucine-rich repeat protein 10 FLJ14466 12q24.31 hypothetical protein FLJ14466 LOC283385 12q24.31 morn LOC144404 12q24.31 similar to transmembrane protein induced by tumor necrosis factor alpha ARHF 12q24.31 ras homolog gene family, member F (in filopodia) LOC338799 12q24.31 hypothetical protein LOC338799 KIAA1076 12q24.31 KIAA1076 protein HPD 12q24.1-q24.32 4-hydroxyphenylpyruvate dioxygenase PSMD9 12q24.31-q24.32 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 MGC33630 12q24.31 hypothetical protein MGC33630
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2043 - 388 - 2002 12270951
  • P2XR4 Ia
  • - - 1895 - 52 - 2002 12270951
    lacks a segment in the coding region, which leads to a frameshift
    - - 1946 - 146 - 2002 12270951
    lacks a segment in the coding region, which leads to a frameshift,
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveintestinesmall intestine  highly
    Nervousspinal cord    
    Reproductivefemale systemplacenta  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion blood predominantly
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two short intracellular domains
  • two transmembrane spanning segments
  • a large extracellular loop
  • mono polymer homomer , heteromer , heptamer
    HOMOLOGY
    Homologene
    FAMILY P2X receptor family
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • purinoceptor, P2X4, ionotropic class, receptor for ATP acting as a ligand gated ion channel
  • P2RX4 as well as P2RY12 is involved in ATP-induced microglial chemotaxis
  • potentially, retains its function within the degradative environment of the lysosome and can subsequently traffic out of lysosomes to upregulate its exposure at the cell surface and phagosome
  • ATP gated cation-selective channel, which can be upregulated following nerve injury or stimulation by various cytokines
  • specifically involved in inflammatory-mediated Prostaglandin E2 production and might therefore represent useful therapeutic targets
  • PANX1 hemichannels and P2RX1 and P2RX4 facilitate ATP release and autocrine feedback mechanisms that control Ca(2+) entry and T-cell activation at the immune synapse
  • calcium-permeable cation channels gated by extracellular ATP
  • involved in endothelium-dependent changes in large arterial tone in response to shear stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • cause the release of brain-derived neurotrophic factor (BDNF) from microglia, which is necessary for maintaining pain hypersensitivity after nerve injury
  • interacting with CCL21 (up-regulates microglia P2RX4 expression and initiates neuropathic pain development)
  • cell & other
    REGULATION
    activated by IFNG (IFNG selectively increases P2X4-receptor gene expression, leading to an up-regulation of purinergic signaling in vascular endothelial cells)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Duchenne muscular dystrophy
    constitutional     --over  
    in spinal cord microglia is crucial for tactile allodynia, an untreatable pathological pain reaction occurring after peripheral nerve injury
    Susceptibility to obesity
    Variant & Polymorphism SNP increasing the risk of obesity
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS