P2RY8

P2RY8
Identifiers
Aliases	P2RY8 , P2Y8, purinergic receptor P2Y8, P2Y receptor family member 8
External IDs	OMIM: 300525; HomoloGene: 65345; GeneCards: P2RY8; OMA:P2RY8 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band X;Y Start 1,462,581 bp [1] End 1,537,185 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell granulocyte blood bone marrow cells monocyte lymph node trabecular bone epithelium of nasopharynx appendix mucosa of ileum n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G protein-coupled purinergic nucleotide receptor activity signal transducer activity G protein-coupled receptor activity Cellular component integral component of membrane plasma membrane membrane integral component of plasma membrane Biological process G protein-coupled receptor signaling pathway signal transduction G protein-coupled purinergic nucleotide receptor signaling pathway positive regulation of Rho protein signal transduction positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 286530 n/a Ensembl ENSG00000182162 n/a UniProt Q86VZ1 n/a RefSeq (mRNA) NM_178129 n/a RefSeq (protein) NP_835230 n/a Location (UCSC) Chr X: 1.46 – 1.54 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

P2Y purinoceptor 8 is a protein that in humans is encoded by the P2RY8 gene. ^{[3] [4]}

Function

The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. ^[4]

Clinical relevance

Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma. ^[5]

See also

• P2Y receptor

References

1. GRCh38: Ensembl release 89: ENSG00000182162 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Adrian K, Bernhard MK, Breitinger HG, Ogilvie A (Jun 2000). "Expression of purinergic receptors (ionotropic P2X1-7 and metabotropic P2Y1-11) during myeloid differentiation of HL60 cells". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1492 (1): 127–38. doi:10.1016/S0167-4781(00)00094-4. PMID   11004484.
4. "Entrez Gene: P2RY8 purinergic receptor P2Y, G-protein coupled, 8".
5. Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR (Mar 2012). "Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United States of America. 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. doi: 10.1073/pnas.1121343109 . PMC   3309757 . PMID   22343534.

Further reading

• Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, Gecz J, Schwartz CE, Van Maldergem L, Villard L (Oct 2004). "Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males". Journal of Medical Genetics. 41 (10): 736–42. doi:10.1136/jmg.2004.021626. PMC   1735597 . PMID   15466006.
• Fujiwara S, Yamashita Y, Choi YL, Watanabe H, Kurashina K, Soda M, Enomoto M, Hatanaka H, Takada S, Ozawa K, Mano H (May 2007). "Transforming activity of purinergic receptor P2Y, G protein coupled, 8 revealed by retroviral expression screening". Leukemia & Lymphoma. 48 (5): 978–86. doi:10.1080/10428190701225882. PMID   17487742. S2CID   678068.
• Storlazzi CT, Albano F, Lo Cunsolo C, Doglioni C, Guastadisegni MC, Impera L, Lonoce A, Funes S, Macrì E, Iuzzolino P, Panagopoulos I, Specchia G, Rocchi M (Oct 2007). "Upregulation of the SOX5 by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma". Leukemia. 21 (10): 2221–5. doi: 10.1038/sj.leu.2404784 . PMID   17554380.

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