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Symbol P2RX7 contributors: mct - updated : 18-11-2015
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
    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
    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
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Hearing/Equilibriumearinner    Homo sapiens
    Lymphoid/Immune    highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage Homo sapiens
    Nervousastrocyte Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • short intracellular N-terminal tail
  • two transmembrane segments (TM1 and TM2) connected by a large ectodomains supporting agonist/antagonist binding, and the second transmembrane domain of P2RX7 contributes to dilated pore formation
  • 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 , and distal C-terminus important for oligomerization and post-translational modification of the receptor, providing a mechanism by which mutations in the trafficking domain disrupt P2RX7 activity and localization at the plasma membrane
  • mono polymer homomer , heteromer , polymer
    interspecies homolog to rattus P2rx7 (80,17 pc)
    homolog to murine P2rx7 (80,67 pc)
  • P2X receptor family
  • CATEGORY receptor membrane , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
  • is essential to fundamental aspects of the innate immune response
  • has a major role in the regulation of osteoblast and osteoclast activity and changes in receptor function may therefore affect bone mass
  • its activation-triggered Ca(2+) entry and mitochondrial dysfunction played important roles in the ATP-induced neuronal death
  • P2RX7 is important regulator of pancreatic stem cells proliferation and death
  • mediate an anticancer effect via apoptosis in different types of cancer
  • ATP-gated cation channel that promotes microglia activation and plays a critical role in the pathogenesis of Alzheimer disease
  • P2RX7 activation regulates microglial cell death during oxygen-glucose deprivation
  • play a critical role in regulation of the engulfing activity of resting astrocytes
  • role of P2X7R expressed by resting astrocytes in the innate immune system of the CNS
  • nonselective cation channel that is activated by extracellular ATP and triggers the secretion of several proinflammatory substances, such as IL1B, IL18, TNF, and nitric oxide
  • participates in inflammation and pain mechanisms
  • in neurohypophysial terminals, having a role in arginine-vasopressin secretion
  • mediate resistance to toxin-induced cell lysis
  • activates several intracellular signaling cascades, such as the calmodulin, mitogen-activated protein kinase and phospholipase D pathways
  • activation of P2RX7 could likely play an important role in shaping the inflammatory microenvironment in conditions where DEF103B is highly expressed, such as psoriasis or oral carcinoma
  • CELLULAR PROCESS cell life, cell death/apoptosis
    a component
    small molecule
  • interacting with PANX1
  • EZR interacts with P2RX7
  • SP1 is a key element in the transcriptional regulation of P2RX7 in the nervous system
  • P2RX7 activation induces the rapid shedding of CXCL16 and this process involves ADAM10
  • ENTPD1 is a negative regulator of P2RX7-mediated inflammatory cell death in mast cells
  • CAV1 regulates P2RX7 signaling in osteoblasts
  • PANX1 is involved in chronic pain signaling by interacting with NMDAR in neurons and with P2RX7 in glia
  • cell & other
    activated by Benzalkonium Chloride (BAC)
    Other regulation by N-linked glycosylation is potentially essential for P2RX7 function
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in chronic lymphocytic leukemia
  • to bipolar disorder
  • to major depressive disorder
  • to extrapulmonary tuberculosis
  • to post-menopausal bone loss and vertebral fractures
  • 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)
  • association between variants that reduce P2RX7 function and increased rate of bone loss
  • Candidate gene
    Therapy target
    inhibition of PX2R7 and PANX1 may be therapeutic in spinal cord inflammation
    drug target in affective disorder
    attractive therapeutic target for inflammatory diseases
    potential therapeutic applications of the P2X7 receptor antagonists in inflammation and pain
    might be potential targets for treatments of pancreatic fibrosis