Description: Homo sapiens inositol 1,4,5-trisphosphate receptor type 2 (ITPR2), mRNA. (from RefSeq NM_002223) RefSeq Summary (NM_002223): The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000381340.8 Gencode Gene: ENSG00000123104.12 Transcript (Including UTRs) Position: hg38 chr12:26,335,352-26,833,194 Size: 497,843 Total Exon Count: 57 Strand: - Coding Region Position: hg38 chr12:26,339,397-26,832,781 Size: 493,385 Coding Exon Count: 57
ID:ITPR2_HUMAN DESCRIPTION: RecName: Full=Inositol 1,4,5-trisphosphate receptor type 2; AltName: Full=IP3 receptor isoform 2; Short=IP3R 2; Short=InsP3R2; AltName: Full=Type 2 inositol 1,4,5-trisphosphate receptor; Short=Type 2 InsP3 receptor; FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). SUBUNIT: Homotetramer (By similarity). Interacts with CABP1. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Isoform Short is found in skeletal muscle and heart. 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. PTM: Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release (By similarity). 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. SIMILARITY: Belongs to the InsP3 receptor family. SIMILARITY: Contains 5 MIR domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF08709 - Inositol 1,4,5-trisphosphate/ryanodine receptor PF00520 - Ion transport protein PF02815 - MIR domain PF08454 - RyR and IP3R Homology associated PF01365 - RIH domain
ModBase Predicted Comparative 3D Structure on Q14571
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.