P2RX7

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Purinergic receptor P2X, ligand-gated ion channel, 7
Identifiers
Symbol(s) P2RX7; MGC20089; P2X7
External IDs OMIM: 602566 MGI1339957 HomoloGene1925
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 5027 18439
Ensembl ENSG00000089041 ENSMUSG00000029468
Uniprot Q99572 Q3UN00
Refseq NM_002562 (mRNA)
NP_002553 (protein)
NM_001038839 (mRNA)
NP_001033928 (protein)
Location Chr 12: 120.06 - 120.11 Mb Chr 5: 122.9 - 122.95 Mb
Pubmed search [1] [2]

Purinergic receptor P2X, ligand-gated ion channel, 7, also known as P2RX7, is a human gene.

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 which would encode different isoforms have been identified although some fit nonsense-mediated decay (NMD) criteria.[1]

Contents

[edit] See also

[edit] References

[edit] Further reading

  • Gartland A, Buckley KA, Hipskind RA, Bowler WB, Gallagher JA. (2003). "P2 receptors in bone--modulation of osteoclast formation and activity via P2X7 activation.". Crit Rev Eukaryot Gene Expr. 13 (2-4): 237-42. PMID 14696970. 
  • Gartland A, Buckley KA, Bowler WB, Gallagher JA. (2003). "Blockade of the pore-forming P2X7 receptor inhibits formation of multinucleated human osteoclasts in vitro.". Calcif Tissue Int. 72 (4): 361-9. PMID 12874700. 
  • Bowler WB, Buckley KA, Gartland A, Hipskind RA, Bilbe G, Gallagher JA.. "Extracellular nucleotide signaling: a mechanism for integrating local and systemic responses in the activation of bone remodeling.". Bone 28 (5): 507-12. PMID 11344050. 
  • Gartland A, Hipskind RA, Gallagher JA, Bowler WB. (2001). "Expression of a P2X7 receptor by a subpopulation of human osteoblasts.". J Bone Miner Res . 16 (5): 846-56. PMID 11341329. 
  • Gartland A, Buckley KA, Hipskind RA, Perry MJ, Tobias JH, Buell G, Chessell I, Bowler WB, Gallagher JA. (2003). "Multinucleated osteoclast formation in vivo and in vitro by P2X7 receptor-deficient mice.". Crit Rev Eukaryot Gene Expr. 13 (2-4): 243-53. PMID 14696971. 
  • North RA (2002). "Molecular physiology of P2X receptors.". Physiol. Rev. 82 (4): 1013-67. doi:10.1152/physrev.00015.2002. PMID 12270951. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298. 
  • Rassendren F, Buell GN, Virginio C, et al. (1997). "The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA.". J. Biol. Chem. 272 (9): 5482-6. PMID 9038151. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149. 
  • Buell GN, Talabot F, Gos A, et al. (1999). "Gene structure and chromosomal localization of the human P2X7 receptor.". Recept. Channels 5 (6): 347-54. PMID 9826911. 
  • Gu BJ, Zhang W, Worthington RA, et al. (2001). "A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor.". J. Biol. Chem. 276 (14): 11135-42. doi:10.1074/jbc.M010353200. PMID 11150303. 
  • Kim M, Jiang LH, Wilson HL, et al. (2002). "Proteomic and functional evidence for a P2X7 receptor signalling complex.". EMBO J. 20 (22): 6347-58. doi:10.1093/emboj/20.22.6347. PMID 11707406. 
  • Worthington RA, Smart ML, Gu BJ, et al. (2002). "Point mutations confer loss of ATP-induced human P2X(7) receptor function.". FEBS Lett. 512 (1-3): 43-6. PMID 11852049. 
  • Wiley JS, Dao-Ung LP, Gu BJ, et al. (2002). "A loss-of-function polymorphic mutation in the cytolytic P2X7 receptor gene and chronic lymphocytic leukaemia: a molecular study.". Lancet 359 (9312): 1114-9. PMID 11943260. 
  • Wilson HL, Wilson SA, Surprenant A, North RA (2002). "Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus.". J. Biol. Chem. 277 (37): 34017-23. doi:10.1074/jbc.M205120200. PMID 12107182. 
  • Atkinson L, Milligan CJ, Buckley NJ, Deuchars J (2002). "An ATP-gated ion channel at the cell nucleus.". Nature 420 (6911): 42. doi:10.1038/420042a. PMID 12422208. 
  • Budagian V, Bulanova E, Brovko L, et al. (2003). "Signaling through P2X7 receptor in human T cells involves p56lck, MAP kinases, and transcription factors AP-1 and NF-kappa B.". J. Biol. Chem. 278 (3): 1549-60. doi:10.1074/jbc.M206383200. PMID 12424250. 
  • Sluyter R, Wiley JS (2003). "Extracellular adenosine 5'-triphosphate induces a loss of CD23 from human dendritic cells via activation of P2X7 receptors.". Int. Immunol. 14 (12): 1415-21. PMID 12456589. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Wiley JS, Dao-Ung LP, Li C, et al. (2003). "An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor.". J. Biol. Chem. 278 (19): 17108-13. doi:10.1074/jbc.M212759200. PMID 12586825. 
  • Barden JA, Sluyter R, Gu BJ, Wiley JS (2003). "Specific detection of non-functional human P2X(7) receptors in HEK293 cells and B-lymphocytes.". FEBS Lett. 538 (1-3): 159-62. PMID 12633871. 
  • Verhoef PA, Estacion M, Schilling W, Dubyak GR (2003). "P2X7 receptor-dependent blebbing and the activation of Rho-effector kinases, caspases, and IL-1 beta release.". J. Immunol. 170 (11): 5728-38. PMID 12759456. 
  • Greig AV, Linge C, Terenghi G, et al. (2003). "Purinergic receptors are part of a functional signaling system for proliferation and differentiation of human epidermal keratinocytes.". J. Invest. Dermatol. 120 (6): 1007-15. PMID 12787128. 
  • Denlinger LC, Sommer JA, Parker K, et al. (2003). "Mutation of a dibasic amino acid motif within the C terminus of the P2X7 nucleotide receptor results in trafficking defects and impaired function.". J. Immunol. 171 (3): 1304-11. PMID 12874219. 

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.