Aliases & Descriptions for ITPR2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases & Descriptions |
|---|
| inositol 1,4,5-triphosphate receptor, type 21 2 | | insP3R22 | | IP3R21 2 | | inositol 1,4,5-trisphosphate receptor type 22 | | Type 2 inositol 1,4,5-trisphosphate receptor2 3 | | IP3 receptor2 | | Type 2 InsP3 receptor2 3 | | IP3 receptor isoform 23 | | IP3R 22 3 | | InsP3R23 |
Export aliases for ITPR2 gene to outside databasesPrevious GC identifers: GC12M026850 GC12M026502 GC12M026390 GC12M026381 GC12M026377 |
Summaries for ITPR2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellularcalcium
summary
for ITPR2: Inositol 1,4,5-triphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores. IP3 receptors play an important role in intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2 and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.
|
Genomic Views for ITPR2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences) About This Section
| Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ITPR2 gene promoter: POU2F1 Lmo2 GATA-1 CUTL1 MyoD GCNF-1 GCNF-2 GR-alpha CREB deltaCREB Other transcription factors
Search SABiosciences Chromatin IP Primers for ITPR2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ITPR2  |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12p11 Ensembl cytogenetic band: 12p11.23 HGNC cytogenetic band: 12p11.23ITPR2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M026258: view genomic region
(about GC identifiers)
Start:
|
26,258,420 bp from pter |
End:
|
26,986,131 bp from pter |
Size:
|
727,712 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000012.11 NT_009714.17
|
Proteins for ITPR2 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
| UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571 (See
protein sequence)Recommended Name: Inositol 1,4,5-trisphosphate receptor type 2 Size: 2701 amino acids; 308064 Da
Subunit: Homotetramer (By similarity). Interacts with CABP1
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous: Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinctcalcium-binding protein which then inhibits the receptor
Secondary accessions: O94773Alternative splicing: 2 isoforms: Q14571-1 Q14571-2 Explore the universe of human proteins at neXtProt for ITPR2: NX_Q14571 
Post-translational modifications:
Phosphorylated on tyrosine residues (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002214.2
ENSEMBL proteins: ENSP00000242737 ENSP00000370744 ENSP00000408287
Human Recombinant Proteins
5/12 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 12): About this table
ITPR2 for ontologies About GeneDecksing
Antibodies for ITPR2: Assays for ITPR2: |
Protein
Domains/ Families for ITPR2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ITPR2 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q14571ProtoNet protein and cluster: Q14571 4 Blocks protein families: IPB000493 Inositol 1,4,5-trisphosphate-binding protein receptor signature IPB000699 Intracellular calcium-release channel IPB003608 MIR domain IPB013662 RyR and IP3R Homology associated
UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571Domain: The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic regionhas the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of thechannel regionSimilarity: Belongs to the InsP3 receptor familySimilarity: Contains 5 MIR domains |
Gene Function for ITPR2 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
| UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellularcalcium
Genatlas biochemistry entry for ITPR2:inositol 1,4,5-triphosphate receptor,type 2,coexpressed with RYR3 in neurons and smooth muscle cells formingheterotetrameric channel with ITPR1 and ITPR3,involved in mobilization from the endoplastic reticulum,highly sensitiveto IP3,required for long lasting,regular Ca++ oscillations,transcriptionally regulated during myelopoiesis target ofEVI-1 and EVI1-VP16 fusion gene5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005216 | ion channel activity |
IEA | -- | | GO:0005220 | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
IEA | -- | | GO:0005262 | calcium channel activity |
-- | -- | | GO:0005488 | binding |
-- | -- | | GO:0008095 | inositol-1,4,5-trisphosphate receptor activity |
TAS | 8081734 | About this table
ITPR2 for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Itpr2):
ITPR2 for phenotypes About GeneDecksing
|
Pathways & Interactions for ITPR2 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
ITPR2 for pathways About GeneDecksing
5/39 Millipore Pathways for ITPR2 (see all 39) 5/30 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for ITPR2 (see all 30)
5/12 Kegg Pathways (Kegg details for ITPR2) (see all 12): SABiosciences Pathway-Focused PCR Arrays including ITPR2: PAHS-037A PAHS-095A 
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ITPR2 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITPR2
5/30 Interacting proteins for ITPR2 (ENSP000003707443 Q145712) via UniProtKB, MINT, and/or STRING (see all 30)About this table
5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13): About this table
ITPR2 for ontologies About GeneDecksing
|
Drugs & Compounds for ITPR2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
ITPR2 for compounds About GeneDecksing
Compounds for ITPR2 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| 2-APB | IP3 receptor antagonist. Also TRP channel modulator | [524-95-8] | About this table
3 Novoseek chemical compound relationships for ITPR2 gene
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| inositol 1,4,5 trisphosphate |
82.5 |
22 |
9560445 (1), 10810447 (1), 17332533 (1), 11842185 (1) (see all 14) |
| ryanodine |
60.4 |
3 |
12407053 (1), 16847098 (1), 15710625 (1) |
| calcium |
49.4 |
28 |
15710625 (3), 9166724 (3), 9560445 (1), 16525579 (1) (see all 11) |
About this table
|
Transcripts for ITPR2 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences) About This Section
|
REFSEQ mRNAs for ITPR2 gene: NM_002223.2 Additional cDNA sequence: AB012610.1 AK307686.1 AK307712.1 AK310504.1 AY429550.1 CR597988.1 D26350.1 12 DOTS entries: DT.121206042 DT.95266161 DT.85105496 DT.121206140 DT.91967173 DT.95266158 DT.121206111 DT.40198684 DT.75112376 DT.80101573 DT.92030662 DT.95220632 24/184 AceView cDNA sequences (see all 184): AI040623 BM834732 AA152014 BM919068 AI521152 BE745875 AW300095 AA311523 BQ025344 Z41760 CA419735 AU139816 CR597988 CA308243 AA452735 F07593 H03708 AI264554 BM851536 BQ446287 AA705345 T29911 AI000717 AW044646
highest scoring ESTs for ITPR2:D26350 AB012610 AA114065 AA311523 AA479093 AA479246 AA525466 AA578213 AA705089 AA705345 Unigene Cluster for ITPR2: Inositol 1,4,5-triphosphate receptor, type 2 Hs.512235 [show with all ESTs]Unigene Representative Sequence: NM_002223
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000242737 ENST00000381340(uc001rhg.2 uc009zjg.1) ENST00000451599(uc001rhh.1 uc001rhi.1)
|
Expression for ITPR2 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| ITPR2 expression in normal and diseased human tissues
1 / 2 / 3 11 probe-sets matching ITPR2 gene
Affymetrix probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 60842_at2, 3
|
U95-C |
1 |
0.94 |
1.00 |
0.98 |
1.15 |
AI963873 |
0.60 |
1.00 |
0.82 |
1 |
| 756_at2, 3
|
U95-A |
1 |
0.69 |
1.00 |
0.97 |
0.62 |
D26350 |
1.00 |
0.87 |
0.94 |
1 |
| 33839_at2, 3
|
U95-A |
1 |
0.56 |
1.00 |
0.94 |
1.24 |
D26350 |
1.00 |
0.87 |
0.94 |
1 |
| 211360_s_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
AB012610 |
0.80 |
1.00 |
0.91 |
1 |
| 202662_s_at2, 3
|
U133-A |
1 |
0.73 |
1.00 |
-- |
-- |
NM_002223 |
0.60 |
1.00 |
0.82 |
1 |
| 202660_at2, 3
|
U133-A |
1 |
0.64 |
1.00 |
-- |
-- |
AA834576 |
0.40 |
1.00 |
0.76 |
1 |
| 202661_at2, 3
|
U133-A |
1 |
0.46 |
1.00 |
-- |
-- |
AI963873 |
0.60 |
1.00 |
0.82 |
1 |
| 211360_s_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 202662_s_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 202660_at2
|
U133Plus2 |
1 |
0.64 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 202661_at2
|
U133Plus2 |
1 |
0.46 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
ITPR2 for expression About GeneDecksing
Data from
Genenote 
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGAAAATCGA
SOURCE GeneReport for Unigene cluster: Hs.512235
Expression variation in blood from EXPOLDB for ITPR2 UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571Tissue specificity: Isoform Short is found in skeletal muscle and heart SABiosciences Expression via Pathway-Focused PCR Arrays including ITPR2: PAHS-037A PAHS-095A 
|
Orthologs for ITPR2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ITPR2 gene from 5/9 species (see all 9)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ITPR21 |
-- |
inositol 1,4,5-triphosphate receptor, type 2 |
93.34(n) 97.89(a) |
486628 XM_847306.1 XP_852399.1 |
cow (Bos taurus) |
ITPR21 |
-- |
inositol 1,4,5-triphosphate receptor, type 2 |
91.81(n) 97.26(a) |
281878 NM_174369.2 NP_776794.1 |
rat (Rattus norvegicus) |
Itpr21 |
-- |
inositol 1,4,5-triphosphate receptor, type 2 |
84.77(n) 95.34(a) |
81678 NM_031046.3 NP_112308.1 |
mouse (Mus musculus) |
Itpr21 , 5 |
6 (77.70 cM)5
|
inositol 1,4,5-triphosphate receptor 21, 5 |
85.09(n)1 95.82(a)1 |
164391 NM_019923.31 NP_064307.21 AB0123935 AB1822885 (see all 28) |
chicken (Gallus gallus) |
ITPR21 |
-- |
inositol 1,4,5-triphosphate receptor, type 2 |
82.89(n) 92.62(a) |
418212 XM_001235612.1 XP_001235613.1 |
About this table Species with no ortholog for ITPR2
ENSEMBL Gene Tree for ITPR2 (if available) |
Paralogs for ITPR2 gene(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ITPR2 gene
- ITPR32 ITPR12
ITPR2 for paralogs About GeneDecksing
|
Genomic Variants for ITPR2 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 12 pos | Sequence | Recs | AA Chg | Type | More | Recs | Allele freq | Pop | Total sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for ITPR2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 21 variations for ITPR2 10 CNVs: 75983 101462 75984 86273 75981 86274 86275 75985 86277 75980 11 Indels: 39891 45027 24986 101461 42681 61216 101460 75982 39890 39889 86276 |  | QIAGEN SeqTarget long-range PCR primers for resequencing ITPR2  |
|
Disorders & Mutations for ITPR2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ITPR2 for disorders About GeneDecksing
OMIM: 600144
Human Genome Epidemiology (HuGE) Navigator: ITPR2 (10 documents) Export disorders and mutations for ITPR2 gene to outside databases
|
Medical News for ITPR2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for ITPR2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
| 10/56 PubMed articles for ITPR2 gene, integrated from 7 sources (see all 56): (articles sorted by number of sources associating them with ITPR2)- Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PubMed id 8081734)1, 2, 3 Yamamoto-Hino M....Mikoshiba K. (1994)
- Muscle-specific mRNA isoform encodes a protein composed mainly of the N-terminal 175 residues of type 2 Ins(1,4,5)P3 receptor. (PubMed id 9729462)1, 2 Futatsugi A.... Mikoshiba K. (1998)
- ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. (PubMed id 17827064)1, 7 van Es M.A....van den Berg L.H. (2007)
- Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP. (PubMed id 18936250)1, 7 Tovey S.C....Taylor C.W. (2008)
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distr ibution. (PubMed id 20935629)1 Heid I.M....Lindgren C.M. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene e xpression in Duchenne dystrophy-derived cells. (PubMed id 20395455)1 CA!rdenas C....Jaimovich E. (2010)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Postural changes in blood pressure associated with in teractions between candidate genes for chronic respiratory diseases and exposur e to particulate matter. (PubMed id 19590686)1 Wilker E....Schwartz J. (2009)
- Increased InsP3Rs in the junctional sarcoplasmic reti culum augment Ca2+ transients and arrhythmias associated with cardiac hypertrop hy. (PubMed id 19549843)1 Harzheim D....Roderick H.L. (2009)
|
External Searches for ITPR2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ITPR2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ITPR2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ITPR2 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
|
About This Section
| Patent Information for ITPR2 gene: Search GeneIP for patents involving ITPR2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ITPR2 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn, Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences) About This Section
|
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| | | Tocris compounds for ITPR2 |
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