ITPR2

Protein-coding gene in humans
ITPR2
Identifiers
AliasesITPR2, CFAP48, IP3R2, ANHD, INSP3R2, inositol 1,4,5-trisphosphate receptor type 2
External IDsOMIM: 600144; MGI: 99418; HomoloGene: 37593; GeneCards: ITPR2; OMA:ITPR2 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for ITPR2
Genomic location for ITPR2
Band12p11.23Start26,335,352 bp[1]
End26,833,194 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for ITPR2
Genomic location for ITPR2
Band6 G3|6 77.7 cMStart146,009,797 bp[2]
End146,403,721 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • germinal epithelium

  • sural nerve

  • liver

  • oral cavity

  • bone marrow cells

  • lactiferous duct

  • jejunal mucosa

  • thymus

  • caput epididymis
Top expressed in
  • oocyte

  • secondary oocyte

  • corneal stroma

  • thymus

  • blood

  • ankle joint

  • brown adipose tissue

  • submandibular gland

  • parotid gland

  • conjunctival fornix
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
SpeciesHumanMouse
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 MbChr 6: 146.01 – 146.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inositol 1,4,5-trisphosphate receptor, type 2, also known as ITPR2, is a protein which in humans is encoded by the ITPR2 gene.[5] The protein encoded by this gene is both a receptor for inositol triphosphate and a calcium channel.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123104 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030287 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: inositol 1".
  6. ^ Yamamoto-Hino M, Sugiyama T, Hikichi K, et al. (1994). "Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors". Recept. Channels. 2 (1): 9–22. PMID 8081734.

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. PMID 18249094.
  • 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. PMC 2702409. PMID 19590686.
  • 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. PMC 1221827. PMID 11336651.
  • 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. PMID 17827064. S2CID 12953367.
  • 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. PMC 2708695. PMID 19549843.
  • 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. PMC 1221291. PMID 10970773.
  • 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. PMC 2430596. PMID 18519826.
  • 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. PMC 2664150. PMID 19193627.
  • 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. PMID 17437169. S2CID 36516047.
  • 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. PMC 1356129. PMID 16344560.
  • 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. doi:10.1016/S0014-5793(00)02362-0. PMID 11163362. S2CID 44945442.
  • 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. PMID 11013462.
  • 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. PMID 10843712.
  • 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. PMID 10874040.
  • 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. PMID 19120137. S2CID 19136722.
  • 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. PMID 11694504.
  • 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. PMC 515316. PMID 15342556.
  • 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. PMC 2568025. PMID 18936250.
  • 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. PMID 14684825. S2CID 10007258.

External links

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Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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