ITPR2

ITPR2
Identifiers
Aliases	ITPR2,CFAP48, IP3R2, ANHD, INSP3R2, inositol 1,4,5-trisphosphate receptor type 2
External IDs	OMIM:600144;MGI:99418;HomoloGene:37593;GeneCards:ITPR2;OMA:ITPR2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p11.23 Start 26,335,352bp End 26,833,194bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 G3|6 77.7 cM Start 146,009,797bp End 146,403,721bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in Achilles tendon germinal epithelium skin of thigh epithelium of colon skin of hip sural nerve liver oral cavity bone marrow cells lactiferous duct Top expressed in Ileal epithelium zygote oocyte primary oocyte secondary oocyte corneal stroma thymus blood ankle joint brown adipose tissue More reference expression data BioGPS n/a
Gene ontology Molecular function calcium channel activity calcium-release channel activity calcium ion transmembrane transporter activity ion channel activity calcium ion binding phosphatidylinositol binding inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity scaffold protein binding inositol 1,4,5 trisphosphate binding Cellular component cytoplasm integral component of membrane endoplasmic reticulum membrane membrane receptor complex plasma membrane sarcoplasmic reticulum cell cortex platelet dense tubular network membrane sarcoplasmic reticulum membrane nucleus endoplasmic reticulum cytoplasmic vesicle membrane secretory granule membrane Biological process regulation of cardiac conduction response to hypoxia cellular response to ethanol regulation of insulin secretion ion transport platelet activation calcium ion transmembrane transport transmembrane transport inositol phosphate-mediated signaling cellular response to cAMP signal transduction calcium ion transport release of sequestered calcium ion into cytosol transport Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 3709 16439 Ensembl ENSG00000123104 ENSMUSG00000030287 UniProt Q14571 Q9Z329 RefSeq (mRNA) NM_002223 NM_010586 NM_019923 RefSeq (protein) NP_002214 NP_034716 NP_064307 Location (UCSC) Chr 12: 26.34 – 26.83 Mb Chr 6: 146.01 – 146.4 Mb PubMedsearch
Wikidata
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Inositol 1,4,5-trisphosphate receptor, type 2,also known asITPR2,is aproteinwhich in humans is encoded by theITPR2gene.Theproteinencoded by this gene is both areceptorforinositol triphosphateand acalcium channel.

See also

• Inositol trisphosphate receptor

Further reading

• Jardín I, Lápez JJ, Salido GM, Rosado JA (2008). "Functional relevance of the de novo coupling between hTRPC1 and type II IP3 receptor in store-operated Ca2+ entry in human platelets".Cell. Signal.20(4): 737–47.doi:10.1016/j.cellsig.2007.12.010.PMID18249094.
• Wilker E, Mittleman MA, Litonjua AA, et al. (2009)."Postural changes in blood pressure associated with interactions between candidate genes for chronic respiratory diseases and exposure to particulate matter".Environ. Health Perspect.117(6): 935–40.doi:10.1289/ehp.0800279.PMC2702409.PMID19590686.
• Rosado JA, Sage SO (2001)."Activation of store-mediated calcium entry by secretion-like coupling between the inositol 1,4,5-trisphosphate receptor type II and human transient receptor potential (hTrp1) channels in human platelets".Biochem. J.356(Pt 1): 191–8.doi:10.1042/0264-6021:3560191.PMC1221827.PMID11336651.
• van Es MA, Van Vught PW, Blauw HM, et al. (2007). "ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study".Lancet Neurology.6(10): 869–77.doi:10.1016/S1474-4422(07)70222-3.PMID17827064.S2CID12953367.
• Harzheim D, Movassagh M, Foo RS, et al. (2009)."Increased InsP3Rs in the junctional sarcoplasmic reticulum augment Ca2+ transients and arrhythmias associated with cardiac hypertrophy".Proc. Natl. Acad. Sci. U.S.A.106(27): 11406–11.Bibcode:2009PNAS..10611406H.doi:10.1073/pnas.0905485106.PMC2708695.PMID19549843.
• Rosado JA, Sage SO (2000)."Coupling between inositol 1,4,5-trisphosphate receptors and human transient receptor potential channel 1 when intracellular Ca2+ stores are depleted".Biochem. J.350 Pt 3 (3): 631–5.doi:10.1042/0264-6021:3500631.PMC1221291.PMID10970773.
• Uhl GR, Liu QR, Drgon T, et al. (2008)."Molecular genetics of successful smoking cessation: convergent genome-wide association study results".Arch. Gen. Psychiatry.65(6): 683–93.doi:10.1001/archpsyc.65.6.683.PMC2430596.PMID18519826.
• Chiò A, Schymick JC, Restagno G, et al. (2009)."A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis".Hum. Mol. Genet.18(8): 1524–32.doi:10.1093/hmg/ddp059.PMC2664150.PMID19193627.
• Miyachi K, Iwai M, Asada K, et al. (2007). "Inositol 1,4,5-trisphosphate receptors are autoantibody target antigens in patients with Sjögren's syndrome and other systemic rheumatic diseases".Mod Rheumatol.17(2): 137–43.doi:10.1007/s10165-006-0555-6.PMID17437169.S2CID36516047.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006)."Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes".Genome Res.16(1): 55–65.doi:10.1101/gr.4039406.PMC1356129.PMID16344560.
• Mery L, Magnino F, Schmidt K, et al. (2001)."Alternative splice variants of hTrp4 differentially interact with the C-terminal portion of the inositol 1,4,5-trisphosphate receptors".FEBS Lett.487(3): 377–83.Bibcode:2001FEBSL.487..377M.doi:10.1016/S0014-5793(00)02362-0.PMID11163362.S2CID44945442.
• Diaz F, Bourguignon LY (2000). "Selective down-regulation of IP(3)receptor subtypes by caspases and calpain during TNF Alpha -induced apoptosis of human T-lymphoma cells".Cell Calcium.27(6): 315–28.doi:10.1054/ceca.2000.0126.PMID11013462.
• Mayne M, Holden CP, Nath A, Geiger JD (2000)."Release of calcium from inositol 1,4,5-trisphosphate receptor-regulated stores by HIV-1 Tat regulates TNF- Alpha production in human macrophages".J. Immunol.164(12): 6538–42.doi:10.4049/jimmunol.164.12.6538.PMID10843712.
• Tanimura A, Tojyo Y, Turner RJ (2000)."Evidence that type I, II, and III inositol 1,4,5-trisphosphate receptors can occur as integral plasma membrane proteins".J. Biol. Chem.275(35): 27488–93.doi:10.1074/jbc.M004495200.PMID10874040.
• Jurkovicova D, Sedlakova B, Lacinova L, et al. (2008). "Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line".Ann. N. Y. Acad. Sci.1148(1): 421–7.Bibcode:2008NYASA1148..421J.doi:10.1196/annals.1410.034.PMID19120137.S2CID19136722.
• Bruce JI, Shuttleworth TJ, Giovannucci DR, Yule DI (2002)."Phosphorylation of inositol 1,4,5-trisphosphate receptors in parotid acinar cells. A mechanism for the synergistic effects of cAMP on Ca2+ signaling".J. Biol. Chem.277(2): 1340–8.doi:10.1074/jbc.M106609200.PMID11694504.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004)."Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions".Genome Res.14(9): 1711–8.doi:10.1101/gr.2435604.PMC515316.PMID15342556.
• Tovey SC, Dedos SG, Taylor EJ, et al. (2008)."Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP".J. Cell Biol.183(2): 297–311.doi:10.1083/jcb.200803172.PMC2568025.PMID18936250.
• Johnson JM, Castle J, Garrett-Engele P, et al. (2003). "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays".Science.302(5653): 2141–4.Bibcode:2003Sci...302.2141J.doi:10.1126/science.1090100.PMID14684825.S2CID10007258.

External links

• ITPR2+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)