Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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inositol 1,4,5-trisphosphate receptor type 2(ITPR2) inositol 1,4,5-trisphosphate receptor type 2(ITPR2) Related Genes Homo sapiens
CHROMOSOME 12,
CYTOBAND 12p11,
ENSEMBL_GENE_ID ENSG00000123104,
GENERIF_SUMMARY Antibodies are detected most frequently in rheumatoid arthritis., Genetic variation is susceptibility factor for amyotrophic lateral sclerosis(ALS). Involved in glutamate-mediated neurotransmission, is one of main regulators of intracellular calcium concentrations, and has important role in apoptosis., Provide evidence for a functional role of the de novo coupling between hTRPC1 and IP3RII in the activation of store operated calcium entry in platelets., Parathyroid hormone communicates with IP(3)R via "cAMP junctions" that allow local delivery of a supramaximal concentration of cAMP to IP(3)R, directly increasing their sensitivity to IP(3)., The result of this study suggested that ITPR2 that do not modulate the risk for SALS in the German population., Elevated InsP(3)R2 expression was also detected in hearts from human patients with heart failure after ischemic dilated cardiomyopathy, as well as in aortic-banded hypertrophic mouse hearts., Dystrophic (RCDMD) human muscle cells show 5-fold overexpression of IP(3)R2 and down-regulation of IP(3)R3 compared with normal human muscle cells., The knock down of IP3R-2 significantly reduced the intracellular Ca2+ response and this reduced Ca2+ response did not affect the activation of CREB but significantly decreased the activation of NFAT., ITPR2 is a functional target gene of the BACH1 transcription factor according to ChIP-seq and knockdown analysis in HEK 293 cells., Functional IP3R2s are expressed in the mouse sinoatrial node and could serve as an additional divalent calcium ion-dependent mechanism in modulating cardiac pacemaker., These data suggest that ER Ca(2+) released by IP(3) receptors may be detrimental in amyotrophic lateral sclerosis and that motor neurons are vulnerable to impaired Ca(2+) metabolism., These results suggest an involvement of hydrogen sulfide in both IP3-induced calcium signalling and induction of apoptosis, possibly through the activation of endoplasmic reticulum stress., Studies indicate that three subtypes of inositol 1,4,5-trisphosphate (IP3) receptors (IP3R1, -2, and -3) are assembled to form homo- and heterotetrameric channels that mediate Ca(2+) release from intracellular stores., The Galphaq-protein/coupled receptor/IP3R axis modulates the electromechanical properties of the human myocardium and its propensity to develop arrhythmias., ITPR2 and hypertrophy specific gene expression is regulated, in part, by a positive feedback regulation between InsP3R2 and calcineurin-NFATc signaling pathways., results show a functional role of calcium release by the ITPR2 channel and its subsequent accumulation in the mitochondria, A genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese., Loss of InsP3R2-mediated calcium release causes isolated anhidrosis in humans., Disrupting IP3R/Bcl-2 interaction therefore leads in those cells to increased Ca(2) release and apoptosis. Intriguingly, IP3R2 is not only implicated in apoptosis but also in the induction of senescence, another tumour-suppressive mechanism., High expression of inositol 1,4,5-trisphosphate receptor, type 2 is associated with acute myeloid leukemia., Studies indicate that the ryanodine receptors (RyRs, the ability to generate tetramers with defined wild type and mutant subunits will be useful in probing fundamental questions relating to IP3Rs (R1, R2, R3) structure and function., Data suggest miR-1290 as the new oncomiR involved in laryngeal squamous cell carcinoma pathogenesis probably through downregulation of its target genes MAF and ITPR2.,
OFFICIAL_GENE_SYMBOL ITPR2,
OMIM_DISEASE Anhidrosis, isolated, with normal sweat glands,
SP_COMMENT domain:The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region., function:Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium., miscellaneous:Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor., PTM:Phosphorylated on tyrosine residues., similarity:Belongs to the InsP3 receptor family., similarity:Contains 5 MIR domains., subunit:Homotetramer., tissue specificity:The short isoform is found in skeletal muscle and heart.,