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FLASH GENE
Symbol P2RX7 contributors: mct - updated : 25-11-2009
HGNC name purinergic receptor P2X, ligand-gated ion channel, 7
HGNC id 8537
Location 12q24.31      Physical location : 121.570.621 - 121.624.353
Synonym name
  • ATP receptor
  • P2X purinoceptor 7
  • purinergic receptor P2X7
  • Synonym symbol(s) P2X7, MGC20089, P2X7R
    DNA
    TYPE functioning gene
    STRUCTURE 53.18 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - D12S366 - RPLP0 - D12S349 - D12S321 - P2RX4 - P2RX7 - EIF2B1 - D12S342 - D12S340 - qter
    Physical map
    LOC283458 12q24.31 nucleoside diphosphate kinase B-like pseudogene SIRT4 12q sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae) PLA2G1B 12q23-q24.32 phospholipase A2, group IB (pancreas) MSI1 12q24.1-q24.31 musashi homolog 1 (Drosophila) 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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 3155 - 595 - 2007 17032903
    - splicing 1872 - 364 - 2005 15896293
    lacking the entire cytoplasmic tail
    - splicing 1799 - 128 - 2005 15896293
    - splicing 1691 - 425 - 2005 15896293
    - splicing 1605 - 275 - 2005 15896293
    - splicing 1578 - 306 - 2005 15896293
    - splicing 2011 - 274 - 2005 15896293
    - splicing 1927 - 505 - 2005 15896293
    lacking the first transmembrane domain
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • short intracellular N-terminal tail
  • two transmembrane segments (TM1 and TM2) connected by a large ectodomains supporting agonist/antagonist binding
  • a large extracellular loop, with a extracellular region surrounding the N187 glycosylation site that is critical for receptor function
  • C-terminal cytosolic domain, long C-terminal end proposed to be responsible for most of the specific biophysical properties of the P2X7R with numerous functions such as connecting the receptor to structures responsible for the large pore formation
  • a 18-AAs domain rich in cysteines in the juxtamembrane C terminus, conserved in all P2X7R orthologs, critical for the general process of current facilitation
  • mono polymer homomer , heteromer , polymer
    HOMOLOGY
    interspecies homolog to rattus P2rx7 (80,17 pc)
    homolog to murine P2rx7 (80,67 pc)
    Homologene
    FAMILY
  • P2X receptor family
  • CATEGORY receptor membrane , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nuclear envelope,int
    basic FUNCTION
  • playing a role in ATP dependent lysis of macrophages and antigen-presenting cells
  • playing a role in pathogenesis of chromic lymphocytic leukemia
  • mediates the NADH transport into astrocytes
  • implicated in ATP secretion from glial cells during Ca2+ wave propagation
  • ATP-gated calcium-permeable cationic channels structurally unique among the P2X family by their much longer intracellular C-terminal tail
  • display a Ca2+-independent facilitation that is responsible for a reduced activation of the receptor
  • plays crucial roles in immune cells initiating and maintaining the inflammatory process through the release of cytokines from the interleukin-1 family
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PANX1
  • cell & other
    REGULATION
    activated by Benzalkonium Chloride (BAC)
    Other regulation by N-linked glycosylation is potentially essential for P2RX7 function
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in chronic lymphocytic leukemia
    Susceptibility
  • to bipolar disorder
  • to major depressive disorder
  • to extrapulmonary tuberculosis
  • Variant & Polymorphism SNP
  • C(1513)A prognostic marker in CLL
  • SNP (rs2230912), associated with bipolar disorder, was significantly associated with major depressive disorder
  • 1513C allele was strongly associated with extrapulmonary, but not pulmonary tuberculosis (this defect is associated with the reduction in the capacity of macrophages to kill M. tuberculosis)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    inhibition of PX2R7 and PANX1 may be therapeutic in spinal cord inflammation
    psychiatry  
    drug target in affective disorder
    immunologyinflammatory 
    attractive therapeutic target for inflammatory diseases
    ANIMAL & CELL MODELS