P2RX7

General Information

Full gene name:purinergic receptor P2X, ligand-gated ion channel, 7 Entrez Gene ID:5027 Location:12q24 Synonyms:P2X7 Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs7957197	109936	upstream

NCBI Summary

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]

OMIM

OMIM ID:`OMIM ID 602566 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

Gene Ontology

• plasma membrane
• protein homodimerization activity
• cytoplasm
• regulation of sodium ion transport
• lipopolysaccharide binding
• positive regulation of cytolysis
• bleb
• cell surface receptor signaling pathway
• innate immune response
• response to ATP
• purinergic nucleotide receptor activity
• pore complex assembly
• positive regulation of calcium ion transport into cytosol
• regulation of apoptotic process
• ATP binding
• membrane
• integral to plasma membrane
• regulation of killing of cells of other organism
• bleb assembly
• negative regulation of MAPK cascade
• membrane depolarization
• negative regulation of bone resorption
• nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
• positive regulation of bone mineralization
• positive regulation of interleukin-1 beta secretion
• extracellular ATP-gated cation channel activity
• receptor binding
• positive regulation of cytoskeleton organization
• purinergic nucleotide receptor signaling pathway
• sensory perception of pain

KEGG Pathways

• Neuroactive ligand-receptor interaction
• Calcium signaling pathway

GeneRIFs

• The A1513C polymorphism in the P2X7R gene is related to the occurrence of infections and survival after allogeneic stem cell transplantation. [PMID 17488689]
• The analysed intragenetic variants of the P2X(7) receptor may not be a susceptibility factor for CD. [PMID 17257221]
• Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 20379614]
• Functional inhibition of rat P2X7 receptors by acidic pH was variably affected by the extracellular His85, Lys110, Lys137, Asp197 and His219 residues, with the Asp197 residue being most critical for this inhibition. [PMID 19068080]
• Study assesses association of -762 T/C, 1513A/C and 1729T/A P2X7 polymorphisms in patients with pulmonary tuberculosis and controls. Revealed an association of -762C allele and 1729T allele receptor polymorphisms with PTB in Asian Indian population. [PMID 20164546]
• a loss-of-function polymorphism within the P2X(7) receptor: Ile-568 is critical to the trafficking domain, which is between residues 551 and 581. [PMID 12586825]
• Data show that P2X7B is widely expressed in several human tissues, modulates P2X7A functions, participates in the control of cell growth, and may help understand the role of the P2X7 receptor in the control of normal and cancer cell proliferation. [PMID 20453110]
• corneal epithelial cells express full-length and truncated forms of P2X(7), which ultimately allows P2X(7) to function as a multifaceted receptor that can mediate cell proliferation and migration or cell death [PMID 22163032]
• Release of IL-1beta from monocytes showed selectivity for specific TLR agonists and was accelerated by P2X7 receptor activation. [PMID 20495003]
• P2X(7) is involved in the proliferative cell response to LL-37 and that the structural/aggregational properties of LL-37 determine its capacity to modulate the activation state of P2X(7). [PMID 18765670]
• In type 2 diabetes (T2D) patients, a significant association was observed between the proportion of P2X(7)(+)CD14(+) cells and blood LDL-cholesterol. No changes were observed in the function of P2X(7)(+) cells from T2D patients. [PMID 21492831]
• The key P2 receptor subtype that is responsible for the proinflammatory effect of adenosine triphosphate (ATP) in vitro and in vivo is P2X7. [PMID 19748989]
• There is an association between expression of pro-apoptotic P2X(7) receptor and glomerulonephritis in rodent models, and in one form of human glomerulonephritis, the underlying relationship and its functional significance remain to be explored. [PMID 17040997]
• loss-of-function polymorphic mutation has anti-apoptotic effect, resulting in increase in B-cell numbers in CLL (chronic lymphocytic leukemia) [PMID 11943260]
• The effect of polymorphisms in the P2X7 gene on the capacity of macrophages to kill mycobacteria is reported. [PMID 15942904]
• An enhanced P2X(7)R function might be a feature of human thyroid cancer. [PMID 17947359]
• This study demonistrated that the P2X7 splice variant receptor was detected in the spinal cord but not in osteoclasts of the P2X7R KO mouse. [PMID 21565445]
• The many roles involving P2X7 suggest that this receptor is essential to fundamental aspects of the innate immune response (P2X7 receptor) [PMID 21988719]
• P2X7R activation signals distinct, novel plasma membrane blebbing events (dependent on RhoA activation and Rho-effector kinase activity) and simultaneously initiates release of IL-1 beta. [PMID 12759456]
• P2X7 controls the cytokine release from LPS-primed macrophages [PMID 21262970]
• The results indicate that calcium in physiological concentrations acts as a negative allosteric modulator of P2X7R by decreasing the affinity of receptors for orthosteric ligand agonists. [PMID 21911484]
• shedding of CD21 and CD62L is mediated via the P2X7R. [PMID 16740600]
• Shockwaves enhance p38 MAPK activation, IL-2 expression, and T-cell proliferation via the release of cellular ATP and feedback mechanisms that involve P2X7 receptor activation and FAK phosphorylation. [PMID 19889958]
• Expression of the P2X7 receptor increases the Ca2+ content of the endoplasmic reticulum, activates NFATc1, and protects from apoptosis [PMID 19204004]
• A significant up-regulation of P2X(7) receptor expression on mononuclear cells was observed after overnight incubation with ATP without any significant differences between rheumatoid arthritis patients and normals. [PMID 18040764]
• P2X(7) activation by extracellular ATP can induce phosphatidylserine exposure in erythrocytes. [PMID 17286963]
• P2X(4) and P2X(7) receptors are expressed by human osteoblast-like cells. P2X(7) receptor is mainly responsible for pore formation although P2X(4) receptors may also be involved. [PMID 19226284]
• In the absence or inactivation of P2X7 receptor, axons grow more rapidly and form more branches in cultured mouse hippocampal neurons, indicative that ATP exerts a negative influence on axonal growth. [PMID 18987356]
• Results suggest that N187D P2X7 might be a positive regulator in the progression of hematopoietic malignancies. [PMID 20837475]
• P2X7 receptor-mediated scavenger activity of mononuclear phagocytes toward non-opsonized particles and apoptotic cells is inhibited by serum glycoproteins but remains active in cerebrospinal fluid. [PMID 22461619]
• This review discusses the need to reinterpret the assumed "go-it alone" function of the P2X7 receptor in light of convincing biochemical and electrophysiological evidence for the existence of P2X4/P2X7 heteromeric receptors. [PMID 17895406]
• Blockade of the pore-forming P2X7 receptor inhibits formation of multinucleated human osteoclasts in vitro. [PMID 12874700]
• the P2X(7) receptor, via regulation of mature IL-1beta production, plays a common upstream transductional role in the development of pain of neuropathic and inflammatory origin. [PMID 15777864]
• detection of nonfunctional receptors in HEK293 cells and B-lymphocytes [PMID 12633871]
• significant association of 762T/C and 1513A/C polymorphisms with TB in the P2X7 gene was found in our study population. A sex bias, with only males showing a significant association with the disease, is the first report of this kind. [PMID 22137490]
• 5 functional single nucleotide polymorphisms in the P2RX7 gene have been identified in patients with severe sepsis and septic shock, whereas no significant association has been found in patient suffering from hemophagocytic syndromes [PMID 21640086]
• Data confirmed the presence of functional P2X1, P2X4 and P2X7 receptors in LAD2 cells and HLMCs. [PMID 19552691]
• P2RX7 polymorphism might play a causal role in the development of depression. [PMID 16822851]
• First description of the expression of functional P2X7 receptors in a subpopulation of osteoblasts, activation of which can result in ATP-mediated apoptosis. [PMID 11341329]
• ROS-mediated activation of the ASK1-p38 MAPK pathway downstream of P2X(7) receptor is required for ATP-induced apoptosis in macrophages. [PMID 18211888]
• Activation of P2X(7) ionotropic receptors is necessary and sufficient to increase 2-arabinoylglycerol production in microglial cells. [PMID 14976257]
• pannexin-1 is required for processing of caspase-1 and release of mature IL-1beta induced by P2X(7) receptor activation. [PMID 17036048]
• Report mechanism of action of species-selective P2X(7) receptor antagonists. [PMID 19309360]
• Although further research is needed to prove that the Gln460Arg change has an aetiological role, it is so far the most convincing mutation to have been found with a role for increasing susceptibility to bipolar and genetically related unipolar disorders [PMID 18268501]
• No allelic or genotypic association between rs2230912 and bipolar I disorder or unipolar major depression P both in the national samples and in the combined European patient sample, was found. [PMID 19330776]
• A loss-of-function SNP at position 1513 (1513 A–>C) of the P2X(7) gene does not appear to be a susceptibility gene locus for the development of sporadic SLE. [PMID 18937793]
• Inflammatory stimuli drive P2X7 expression. The P2X7 receptor may play a role in the inflammatory responses against bacteria infection. [PMID 15830104]
• Signaling via NADPH oxidase activity is fundamental for the processing of mature IL-1 beta induced in monocytes by ATP receptor P2X7R and caspase-1 activation. [PMID 18523309]
• investigated P2X7 expression in 11 human hematopoietic cell lines, representing different lineages, as well as bone marrow mononuclear cells (BMMC) samples from 87 leukemia and 10 myelodysplastic syndrome (MDS) patients [PMID 15475073]
• human RA type B synoviocytes, express the P2X7 receptor which may modulate IL-6 release but not inducing changes in cell membrane permeability. [PMID 18545980]
• Possible role of 1513A>C polymorphism as a novel clinical marker of papillary thyroid carcinoma follicular variant. [PMID 19017759]
• Non-melanoma skin cancers express functional purinergic receptors and that P2X7 receptor agonists significantly reduce cell numbers in vitro. [PMID 12880424]
• Levels of P2X(7) protein and mRNA were significantly lower in vivo, in tissues of complex hyperplasia with atypia or endometrial adenocarcinoma, than in tissues of normal endometrium, simple hyperplasia or complex hyperplasia tissues. [PMID 17482244]
• Arg(307) polymorphism abolishes the binding of ATP to the extracellular domain of P2X7. [PMID 15123679]
• novel regulation of P2X7R outward and inward permeability to large molecules by Cl-(o) and Na+(o), respectively [PMID 15923180]
• Results suggested that P2X7 receptor-mediated cytotoxic effects may occur independent of calcium response. [PMID 19430700]
• Mapping human P2X7 glycosylation sites reveals residue asparagine-187 is critical for receptor trafficking and function. [PMID 20450227]
• Explored the pharmacological action of compounds known to block gap junctions on Panx1 channels activated by the P2X(7)R and the mechanisms involved in the interaction between these two proteins. [PMID 18596211]
• increased ATP-dependent activation of the P2X(7) 489T mutant with respect to the wild type receptor [PMID 15972634]
• K193 and K311 are essential residues in ATP binding in the hP2X(7)R. [PMID 11852049]
• level of expression at the injury site may not be linked to the maintenance of neuropathic pain after lingual nerve injury [PMID 19264037]
• P2RX7 gene polymorphisms Gln460Arg (rs2230912) and His155Tyr (rs208294) are not associated with treatment-resistant major depressive disorder or remission following serotonin reuptake inhibitor or electroconvulsive therapy. [PMID 21335057]
• P2X7 receptor-triggered signalling pathways that regulate neurite formation in neuroblastoma cells. [PMID 19682070]
• a segment composed of residues from part of the M2 domain and part of the putative TM2 segment of P2X(7)R may be partially folded in a beta-sheet conformation: may play an important role in channel/pore formation associated with P2X7R activation [PMID 19186133]
• Results suggest that ATP release and autocrine, positive feedback through P2X(7) receptors is required for the effective activation of T cells. [PMID 19211924]
• Data show that nonmuscle myosin closely interacts with P2X(7) and is dissociated from the complex by extracellular ATP. [PMID 19494237]
• activation of the P2X7 ATP receptor elevates mitochondrial calcium and potential, increases cellular ATP levels, and promotes serum-independent growth [PMID 15901833]
• a novel role for P2X(7) as a pro-inflammatory receptor involved in rapid MMP-9 release and leukocyte recruitment. [PMID 16514055]
• Human Langerhans cells express functional P2X7 receptors, which play a role in the skin immune system. [PMID 16117789]
• Activation of epithelial P2X(7)R is mandatory for neutrophil-induced caspase-1 activation and IL-1beta release by intestinal epithelial cells in inflammatory bowel diseases. [PMID 20185692]
• The results of this study suggested that selectively targeting P2X7R pore formation may be a new strategy for individualizing the treatment of chronic pain. [PMID 22447075]
• Single amino acid differences between species can account for large changes in agonist effectiveness and differentiate between the two widely used agonists at P2X7 receptors. [PMID 17032903]
• This study showed an association between specific symptoms of bipolar disorder and the P2RX7 gene. [PMID 22017219]
• mechanisms behind the P2X7-dependent depletion of nuclear phosphorylated Akt [PMID 20605778]
• a novel P2X7 purinoceptor inflammatory pathway may be involved in the release of interleukin-1 beta, which may be linked to the onset of labor. [PMID 18089587]
• P2X7 receptor A1531C polymorphism is not associated with susceptibility to pulmonary tuberculosis[Meta-analysis] [PMID 21470339]
• increased expression of miR-186 and miR-150 in cancer epithelial cells decreases P2X7 mRNA by activation of miR-186 and miR-150 instability target sites located at the 3’-UTR-P2X7 [PMID 18682393]
• P2X7R-mediated T. gondii killing occurs in parallel with host cell apoptosis [PMID 20488797]
• C-terminal calmodulin-binding motif differentially controls human and rat P2X7 receptor current facilitation [PMID 20378545]
• Residues 155 and 348 contribute to the determination of P2X7 receptor function via distinct mechanisms revealed by single-nucleotide polymorphisms [PMID 21205829]
• the reversible permeabilization of erythrocytes by extracellular ATP is mediated by the P2X7 receptor [PMID 15304508]
• Results demonstrate that lipopolysaccharide modulates the activity of the P2X7R and suggest that this effect could be of physiological relevance. [PMID 21941410]
• Current mapping suggests that murine P2RX7 receptor gene lies within lupus susceptibility locus SLEB4; P2RX7 receptor gene encodes a product with functional characteristics consistent with a role in systemic lupus erythematosus. [PMID 15899033]
• P2X7 has a role in preventing apoptosis of human primary osteoclasts [PMID 16228288]
• PIP(2) as a critical regulator of the function of the extracellular ligand-gated P2X receptor/channels and provide a novel way to control ATP-mediated cell death. [PMID 19151591]
• P2X7 receptor mediates the development of visceral hypersensitivity in a mouse model of postinfectious irritable bowel syndrome. [PMID 21697458]
• findings have shown, for the first time, that functional P2X7 receptors are present in human melanomas and that their activation causes a decrease in cell number by apoptosis [PMID 15991050]
• Results describe the effect of protons on the activation of human P2X7 purinergic receptors. [PMID 20138022]
• A mechanism for P2X(7) receptor action, where activation involves a GRK-3-, beta-arrestin-2-, and dynamin-dependent internalization of the receptor into clathrin domains, followed in part by receptor degradation and recycling into the plasma membrane. [PMID 15728711]
• P2RX7 Gln460Arg polymorphism is associated with depression in Hungarian diabetic patients. [PMID 18801407]
• Our results indicate a possible role for novel PKC isoforms in the regulation of P2X(7)-mediated PLD activity. [PMID 17130901]
• Human P2RX7 single non-synonymous nucleotide polymorphisms affect ATP-activated ion channel function and pore formation. [PMID 19931869]
• P2X7 alleles modulate LPS-stimulated cytokine production, and may serve as an amplification loop of innate immunity. [PMID 15120006]
• The geometric dimensions of the proximal femur in perimenopausalwomen are not associated with P2X7 polymorphisms. [PMID 19225709]
• Results suggest a possible involvement of P2X(7) in the pathogenesis of inflammatory autoimmune diseases. [PMID 20493226]
• investigated the coinheritance of 12 functionally relevant SNPs in the human P2X(7) gene; the functional effect of each singly and in combination was assessed by measuring ATP-induced currents and ethidium(+) uptake [PMID 20360457]
• Different purinergic receptors have different functional roles in human epidermis with P2Y1 and P2Y2 receptors controlling proliferation, while P2X5 and P2X7 receptors control early differentiation, terminal differentiation and death of keratinocytes. [PMID 12787128]
• Variation is observed in the purinergic P2RX(7) receptor gene and schizophrenia. [PMID 18614336]
• neuroblastoma cells seem to have molded P2X(7) function to their advantage in two ways (i.e., by silencing P2X(7) proapoptotic activity and by coupling P2X(7) stimulation to release of locally acting trophic factors) [PMID 16424024]
• transcription factor FosB/activating protein-1 (AP-1) activation is a prominent downstream signal of the extracellular nucleotide receptor P2RX7 in monocytic and osteoblastic cells [PMID 20813842]
• P2RX7 and its risk alleles predisposed to mood disorders consistently in three independent clinical cohorts [PMID 21438144]
• The strongest association was observed in bipolar families at the non-synonymous SNP P2RX7-E13A, which results from an over-transmission of the mutant G-allele to affected offspring. [PMID 16673375]
• These data suggest that the P2X(7) receptor in its unactivated state acts like a scavenger receptor [PMID 21821797]
• The data show that monocyte-derived DC express the P2X7 receptor whose activation opens a cation-selective channel, and which leads to rapid and near complete shedding of CD23 [PMID 12456589]
• These data demonstrate that P2X7R palmitoylation plays a critical role in its association with the lipid microdomains of the plasma membrane and in the regulation of its half-life. [PMID 18971257]
• Our data do not support a role of the P2X7 genotype as a prognostic marker in B-cell CLL. [PMID 15089763]
• Analysis of P2X7 showed that the 1513A–>C and -762T–>C polymorphisms did not appear to be associated with the susceptibility of the Chinese Han population to tuberculosis. [PMID 19076224]
• Data suggest that P2X7R and P2Y(2)R could be novel therapeutic targets in Alzheimer’s disease. [PMID 21651910]
• a novel pathway of phagocytosis of nonopsonized particles and bacteria, which operate in vivo and require an intact P2X(7)-nonmuscle myosin IIA membrane complex. [PMID 20007545]
• P2X7R expression was measured in lung tissue and immune cells of mice or in humans with allergic asthma. [PMID 20508067]
• Analysis of the P2X(7) receptor gene in the Russian Slavic population showed that the 1513C allele is a possible risk factor for clinical TB, whereas the -762 P2RX7 polymorphism did not appear to be associated with human susceptibility to TB [PMID 18436590]
• the influenceof P2X7 genotype on susceptibility to chronic lymphocytic leukaemia or clinical outcome is small [PMID 12931211]
• a prominent association found between severity of panic- and agoraphobia symptoms and an exonic SNP (rs3817190) in the CaMKKb gene and a trend for association with an exonic SNP in P2RX7 (rs1718119) with severity scores in the panic- and agoraphobia scale [PMID 17197037]
• ATP-induced release of IL-1 beta is slower in monocytes from subjects homozygous for the Glu496Ala loss-of-function polymorphism in the P2X7 receptor, and this reduced rate of IL-1 beta release is associated with a lower ATP-induced potassium ion efflux. [PMID 15004138]
• The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Arg) and CACNA1C:rs1006737 were genotyped in DNA from 457 depression cases (major depression, dysthymia, and mixed anxiety depression. [PMID 20226536]
• P2RX7 activation promotes the rapid and robust release of vascular endothelial growth factor (VEGF) from primary human monocytes, a previously unrecognized role for P2RX7 in angiogenesis and wound repair. [PMID 20668222]
• the P2X7 carboxyl tail is a regulatory module of P2X7 receptor channel activity [PMID 18617511]
• signaling via the P2X7R may modulate the astrocytic response to inflammation in the human central nervous system. [PMID 15472991]
• This is the first study demonstrating that the 1513A–>C polymorphism is associated with extrapulmonary tuberculosis in children. [PMID 20661107]
• These data suggest that protein disulfide isomerase regulates a critical P2X7 receptor-dependent signaling pathway that generates prothrombotic TF, defining a link between inflammation and thrombosis with potential implications for antithrombotic therapy. [PMID 21670495]
• polymorphisms at the 1513 locus had a statistically significant association with P2X7 variants and tuberculosis susceptibility, while the -762 locus allele variants were not significantly associated with P2X7 variants and tuberculosis susceptibility [PMID 20846359]
• Meta-analysis of gene-disease association. (HuGE Navigator) [PMID 20846359]
• Purinergic receptor P2RX7 functionality is necessary for infection of human hepatocytes by hepatitis delta virus and hepatitis B virus [PMID 21187936]
• Collectively, our results suggest that the P2X7 1513A/C loss-of-function polymorphism may contribute to susceptibility to extrapulmonary tuberculosis in Tunisian populations. [PMID 21635566]
• P2X7 Glu496Ala and the Ile568Asn single nucleotide polymorphisms are associated with 10-year fracture risk in postmenopausal women and response to hormone replacement therapy treatment. [PMID 17558311]
• In this preliminary study, we could nominate but not clearly demonstrate rare P2RX7 loss-of-function variants being associated with total hip arthroplasty failure [PMID 19891999]
• Describe negative modulators of P2X-7 receptor. [PMID 18071294]
• The data presented are supportive of a model wherein residues Arg578 and Lys579 within the distal C-terminal lipid interaction domain of P2X7 are required for normal trafficking of the receptor as well as ligand binding and channel gating. [PMID 12874219]
• Data show that SAA can induce the expression of pro-IL-1beta and activation of the NLRP3 inflammasome via P2X(7) receptor and a cathepsin B-sensitive pathway. [PMID 21508263]
• analysis of expression of a truncated naturally occurring variant of the human purinergic receptor P2X7 (P2X7-R) in human cancer cervical cells [PMID 17065105]
• Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 21041608]
• P2X7/Ca2+ influx is modulated by estrogen in human ectocervical epithelial cells [PMID 15571247]
• Our results indicate that ADP-ribosylation of R125 positions this common chemical framework to fit into the nucleotide-binding site of P2X7 and thereby gates the channel. [PMID 17928361]
• The P2X7 receptors gene +1513C allele is a risk factor for the development of tuberculosis in the North Indian Punjabi population. [PMID 20819262]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20819262]
• a novel P2X7 variant has apoptosis-inhibitory actions; the truncated variant has a the ability to antagonize its full-length counterpart through hetero-oligomerization [PMID 16624800]
• P2RX7 receptor regulates lung surfactant secretion in a paracrine manner. [PMID 21266468]
• The present findings suggest that L2.3 cells express P2X7R, and this receptor may be involved in HI injury of radial glia by mediating phosphorylation of GSK-3beta. [PMID 22377955]
• P2X7 with a Thr357 to Ser polymorphism has absent or reduced function and impaired ATP-induced mycobacterial killing by macrophages [PMID 16263709]
• We report the identification of seven variants of human P2X7 which result from alternative splicing. [PMID 15896293]
• P2X7 modulates neuronal signalling in retinal rod and cone pathways. [PMID 22183411]
• we provide evidence of an absolute requirement for the P2X7 receptor, ATP release, and adenosine signaling in human osteoclast formation. [PMID 21233486]
• data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 locus, being involved in susceptibility to mood disorders [PMID 19160446]
• Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [PMID 20628086]
• P2X7 is a cation channel expressed by leukocytes and airway epithelial cells that is important to pathogen control and concomitant cellular inflammation [PMID 19201928]
• In this study, we describe a readily applicable genotyping method for rs1653625 polymorphism of P2RX7 by applying a primer that introduces mismatched nucleotides to create a restriction enzyme cleavage site. [PMID 20446288]
• Human transfected P2X(7) receptor-induced depolarization and associated pottassium efflux may reduce sodium occupancy of the regulatory sodium binding site. [PMID 17483156]
• both P2X(7) and Panx-1 are required for GM-CSF promotion of multinucleated macrophages fusion [PMID 21865551]
• monocyte-derived human dendritic cells stimulated with a P2X7 receptor (P2X7R) agonist undergo a large release of microparticles containing the membrane-bound form of tissue factor [PMID 17314141]
• Polymorphism at position 1068 and 1513 in the P2X7R gene might contribute to the pathogenesis of rheumatoid arthritis [PMID 21645266]
• Fibroblasts from type 2 diabetes patients are characterized by a hyperactive purinergic loop based either on a higher level of ATP release or on increased P2X7 reactivity. [PMID 15155383]
• the ability of P2X(7) polymorphisms to regulate the LPS-induced TNF-alpha to IL-10 ratio [PMID 15778408]
• Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [PMID 15184265]
• Observational study of genotype prevalence. (HuGE Navigator) [PMID 15862308]
• A 5’ intronic splice site polymorphism leads to a null allele of P2X7. [PMID 15862308]
• case-control analysis did not reveal significant results, but using a symptom severity scale we could support the association between depressive disorder and the G-allele of the Gln460Arg polymorphism in the P2RX7 gene. [PMID 18543274]
• Increase in P2X(7) production is one mechanism that may explain how beta cells compensate by adapting to the higher insulin demand [PMID 19396427]
• Retinoic acid treatment of human SH-SY5Y cells leads to decreased P2X(7) nucleotide receptor protein expression thus protecting differentiated cells from extracellular nucleotide-induced neuronal death. [PMID 19882109]
• Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and congenital toxoplasmosis. [PMID 20535134]
• A single nucleotide polymorphism (1513A–>C) in the P2X7 gene allows survival of mycobacteria within infected host cells. [PMID 14607949]
• Human adipocytes express functionally active P2X(7)R, which modulate the release of inflammatory cytokines, at least in part via inflammasome activation. Adipocytes from metabolic syndrome patients show an enhanced P2X(7)R expression. [PMID 21978920]
• There is significant evidence of association between the single nucleotide polymorphism rs591874 in the first intron of the P2X7 gene and blood pressure. [PMID 18852390]
• a novel mechanism of IL-1beta release from activated microglia (brain macrophages) that occurred independently of P2X(7) ATP receptor activation [PMID 17142754]
• in polarized epithelial cells under steady-state conditions the P2X7-R is located in the apical membrane, and activation of the receptor induces formation of P2X7-R pores preferentially in the apical membrane [PMID 17065062]

PubMed Articles

Recent articles:

• Gu BJ et al. “P2X7 receptor-mediated scavenger activity of mononuclear phagocytes toward non-opsonized particles and apoptotic cells is inhibited by serum glycoproteins but remains active in cerebrospinal fluid.” J Biol Chem. 2012 May 18;287(21):17318-30. PMID 22461619
• Zeng W et al. “P2X7 receptor modulation of the viability of radial glial clone L2.3 cells during hypoxic-ischemic brain injury.” Mol Med Report. 2012 May;5(5):1357-61. PMID 22377955
• Sorge RE et al. “Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity.” Nat Med. 2012 Mar 25;18(4):595-9. PMID 22447075
• Singla N et al. “Genetic polymorphisms in the P2X7 gene and its association with susceptibility to tuberculosis.” Int J Tuberc Lung Dis. 2012 Feb;16(2):224-9. PMID 22137490
• Vessey KA et al. “The role of the P2X7 receptor in the retina: cell signalling and dysfunction.” Adv Exp Med Biol. 2012;723:813-9. PMID 22183411
• Mankus C et al. “Corneal epithelium expresses a variant of P2X(7) receptor in health and disease.” PLoS One. 2011;6(12):e28541. PMID 22163032
• Madec S et al. “Adipocyte P2X7 receptors expression: a role in modulating inflammatory response in subjects with metabolic syndrome?.” Atherosclerosis. 2011 Dec;219(2):552-8. PMID 21978920
• Wiley JS et al. “The human P2X7 receptor and its role in innate immunity.” Tissue Antigens. 2011 Nov;78(5):321-32. PMID 21988719
• Backlund L et al. “Cognitive manic symptoms associated with the P2RX7 gene in bipolar disorder.” Bipolar Disord. 2011 Aug-Sep;13(5-6):500-8. PMID 22017219
• Leiva-Salcedo E et al. “Lipopolysaccharide inhibits the channel activity of the P2X7 receptor.” Mediators Inflamm. 2011;2011:152625. PMID 21941410

Top Pubmed articles linked to gene P2RX7 matching any search term:

• McHugh SM et al. “Effects of genetic variation in the P2RX7 gene on pharmacodynamics of a P2X(7) receptor antagonist: a prospective genotyping approach.” Br J Clin Pharmacol. 2012 Aug;74(2):376-380. PMID 22295949
• Zeng W et al. “P2X7 receptor modulation of the viability of radial glial clone L2.3 cells during hypoxic-ischemic brain injury.” Mol Med Report. 2012 May;5(5):1357-61. PMID 22377955
• Liu J et al. “Elevation of transcription factor Islet-1 levels in vivo increases β-cell function but not β-cell mass.” Islets. 2012 May 1;4(3):199-206. PMID 22595886
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