Alias (NCBI) | ANHD |
| CFAP48 |
| INSP3R2 |
| IP3R2 |
HGNC (Hugo) |
ITPR2 |
HGNC Alias symb | IP3R2 |
| CFAP48 |
HGNC Alias name | cilia and flagella associated protein 48 |
HGNC Previous name | inositol 1,4,5-triphosphate receptor, type 2 |
| inositol 1,4,5-trisphosphate receptor, type 2 |
LocusID (NCBI) |
3709 |
Atlas_Id |
47218 |
Location |
12p11.23 [Link to chromosome band 12p11] |
Location_base_pair |
Starts at 26335352 and ends at 26833194 bp from pter ( according to hg38-Dec_2013) |
| ARF3 (12q13.12) / ITPR2 (12p12.1) | ARNTL2 (12p11.23) / ITPR2 (12p12.1) | BCAT1 (12p12.1) / ITPR2 (12p12.1) |
|
C2CD5 (12p12.1) / ITPR2 (12p12.1) | DNM1L (12p11.21) / ITPR2 (12p12.1) | ETV6 (12p13.2) / ITPR2 (12p12.1) |
|
FGFR1OP2 (12p11.23) / ITPR2 (12p12.1) | ITPR2 (12p12.1) / ADIPOR2 (12p13.33) | ITPR2 (12p12.1) / ANO2 (12p13.31) |
|
ITPR2 (12p12.1) / CCDC91 (12p11.22) | ITPR2 (12p12.1) / EIF5 (14q32.32) | ITPR2 (12p12.1) / GAREM () |
|
ITPR2 (12p12.1) / GTF3C2 (2p23.3) | ITPR2 (12p12.1) / HOMER1 (5q14.1) | ITPR2 (12p12.1) / ITPR2 (12p12.1) |
|
ITPR2 (12p12.1) / RASSF3 (12q14.2) | POLDIP3 (22q13.2) / ITPR2 (12p12.1) | SUGP2 (19p13.11) / ITPR2 (12p12.1) |
|
ZNF766 (19q13.41) / ITPR2 (12p12.1) | ETV6 12p13.2 / ITPR2 12p11.23 | ARNTL2 12p11.23 / ITPR2 12p12.1 |
|
BCAT1 12p12.1 / ITPR2 12p12.1 | DNM1L 12p11.21 / ITPR2 12p12.1 | ITPR2 12p12.1 / ADIPOR2 12p13.33 |
|
ITPR2 12p12.1 / ANO2 12p13.31 | ITPR2 12p12.1 / RASSF3 12q14.2 | KIAA0528 ITPR2 12p12.1 |
|
| Nomenclature |
HGNC (Hugo) | ITPR2 6181 |
| Cards |
Entrez_Gene (NCBI) | ITPR2 inositol 1,4,5-trisphosphate receptor type 2 |
Aliases | ANHD; CFAP48; INSP3R2; IP3R2 |
GeneCards (Weizmann) | ITPR2 |
Ensembl hg19 (Hinxton) | ENSG00000123104 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000123104 [Gene_View]  ENSG00000123104 [Sequence] chr12:26335352-26833194 [Contig_View] ITPR2 [Vega] |
ICGC DataPortal | ENSG00000123104 |
TCGA cBioPortal | ITPR2 |
AceView (NCBI) | ITPR2 |
Genatlas (Paris) | ITPR2 |
SOURCE (Princeton) | ITPR2 |
Genetics Home Reference (NIH) | ITPR2 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | ITPR2 - chr12:26335352-26833194 - 12p11.23 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | ITPR2 - 12p11.23 [Description] (hg19-Feb_2009) |
GoldenPath | ITPR2 - 12p11.23 [CytoView hg19] ITPR2 - 12p11.23 [CytoView hg38] |
ImmunoBase | ENSG00000123104 |
genome Data Viewer NCBI | ITPR2 [Mapview hg19] |
OMIM | 106190 600144 |
| Gene and transcription |
Genbank (Entrez) | AB012610 AI339141 AK307686 AK307712 AK310504 |
RefSeq transcript (Entrez) | NM_002223 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | ITPR2 |
Alternative Splicing Gallery | ENSG00000123104 |
Gene Expression | ITPR2 [ NCBI-GEO ] ITPR2 [ EBI - ARRAY_EXPRESS ]
ITPR2 [ SEEK ] ITPR2 [ MEM ] |
Gene Expression Viewer (FireBrowse) | ITPR2 [ Firebrowse - Broad ] |
Genevisible | Expression of ITPR2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 3709 |
GTEX Portal (Tissue expression) | ITPR2 |
Human Protein Atlas | ENSG00000123104-ITPR2 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | Q14571 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | Q14571 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | Q14571 |
Splice isoforms : SwissVar | Q14571 |
PhosPhoSitePlus | Q14571 |
Domaine pattern : Prosite (Expaxy) | MIR (PS50919) |
Domains : Interpro (EBI) | ARM-type_fold Ins145_P3_rcpt InsP3_rcpt Ion_trans_dom MIR_dom_sf MIR_motif RIH_assoc-dom RIH_dom RyR/IP3R_RIH_dom_sf |
Domain families : Pfam (Sanger) | Ins145_P3_rec (PF08709) Ion_trans (PF00520) MIR (PF02815) RIH_assoc (PF08454) RYDR_ITPR (PF01365) |
Domain families : Pfam (NCBI) | pfam08709 pfam00520 pfam02815 pfam08454 pfam01365 |
Domain families : Smart (EMBL) | MIR (SM00472) |
Conserved Domain (NCBI) | ITPR2 |
Blocks (Seattle) | ITPR2 |
Superfamily | Q14571 |
Human Protein Atlas [tissue] | ENSG00000123104-ITPR2 [tissue] |
Peptide Atlas | Q14571 |
HPRD | 02536 |
IPI | IPI00031545 IPI00218668 IPI00790132 IPI01014569 |
| Protein Interaction databases |
DIP (DOE-UCLA) | Q14571 |
IntAct (EBI) | Q14571 |
BioGRID | ITPR2 |
STRING (EMBL) | ITPR2 |
ZODIAC | ITPR2 |
| Ontologies - Pathways |
QuickGO | Q14571 |
Ontology : AmiGO | response to hypoxia inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity calcium ion binding nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane plasma membrane plasma membrane cell cortex signal transduction calcium ion transmembrane transporter activity membrane integral component of membrane sarcoplasmic reticulum platelet activation cytoplasmic vesicle membrane secretory granule membrane platelet dense tubular network membrane sarcoplasmic reticulum membrane phosphatidylinositol binding receptor complex ion channel binding inositol phosphate-mediated signaling regulation of insulin secretion release of sequestered calcium ion into cytosol release of sequestered calcium ion into cytosol inositol 1,4,5 trisphosphate binding cellular response to cAMP cellular response to ethanol scaffold protein binding regulation of cardiac conduction |
Ontology : EGO-EBI | response to hypoxia inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity calcium ion binding nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane plasma membrane plasma membrane cell cortex signal transduction calcium ion transmembrane transporter activity membrane integral component of membrane sarcoplasmic reticulum platelet activation cytoplasmic vesicle membrane secretory granule membrane platelet dense tubular network membrane sarcoplasmic reticulum membrane phosphatidylinositol binding receptor complex ion channel binding inositol phosphate-mediated signaling regulation of insulin secretion release of sequestered calcium ion into cytosol release of sequestered calcium ion into cytosol inositol 1,4,5 trisphosphate binding cellular response to cAMP cellular response to ethanol scaffold protein binding regulation of cardiac conduction |
Pathways : KEGG | Calcium signaling pathway Phosphatidylinositol signaling system Oocyte meiosis Vascular smooth muscle contraction Gap junction Long-term potentiation Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse Dopaminergic synapse Long-term depression GnRH signaling pathway Estrogen signaling pathway Thyroid hormone synthesis Salivary secretion Gastric acid secretion Pancreatic secretion Alzheimer's disease Proteoglycans in cancer |
NDEx Network | ITPR2 |
Atlas of Cancer Signalling Network | ITPR2 |
Wikipedia pathways | ITPR2 |
| Orthology - Evolution |
OrthoDB | 3709 |
GeneTree (enSembl) | ENSG00000123104 |
Phylogenetic Trees/Animal Genes : TreeFam | ITPR2 |
HOGENOM | Q14571 |
Homologs : HomoloGene | ITPR2 |
Homology/Alignments : Family Browser (UCSC) | ITPR2 |
| Gene fusions - Rearrangements |
Fusion : Mitelman | ARNTL2/ITPR2 [12p11.23/12p12.1]   |
Fusion : Mitelman | BCAT1/ITPR2 [12p12.1/12p12.1]   |
Fusion : Mitelman | C2CD5/ITPR2 [12p12.1/12p12.1]   |
Fusion : Mitelman | DNM1L/ITPR2 [12p11.21/12p12.1]   |
Fusion : Mitelman | ETV6/ITPR2 [12p13.2/12p12.1]   |
Fusion : Mitelman | ITPR2/ADIPOR2 [12p12.1/12p13.33]   |
Fusion : Mitelman | ITPR2/ANO2 [12p12.1/12p13.31]   |
Fusion : Mitelman | ITPR2/RASSF3 [12p12.1/12q14.2]   |
Fusion Portal | ARNTL2 12p11.23 ITPR2 12p12.1 BRCA |
Fusion Portal | BCAT1 12p12.1 ITPR2 12p12.1 BRCA |
Fusion Portal | DNM1L 12p11.21 ITPR2 12p12.1 LUAD |
Fusion Portal | ITPR2 12p12.1 ADIPOR2 12p13.33 LGG |
Fusion Portal | ITPR2 12p12.1 ANO2 12p13.31 BRCA |
Fusion Portal | ITPR2 12p12.1 RASSF3 12q14.2 LUAD |
Fusion Portal | KIAA0528 ITPR2 12p12.1 BRCA |
Fusion : Quiver | ITPR2 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | ITPR2 [hg38] |
dbVar | ITPR2 |
ClinVar | ITPR2 |
Monarch | ITPR2 |
1000_Genomes | ITPR2 |
Exome Variant Server | ITPR2 |
GNOMAD Browser | ENSG00000123104 |
Varsome Browser | ITPR2 |
Genomic Variants (DGV) | ITPR2 [DGVbeta] |
DECIPHER | ITPR2 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | ITPR2 |
| Mutations |
ICGC Data Portal | ITPR2 |
TCGA Data Portal | ITPR2 |
Broad Tumor Portal | ITPR2 |
OASIS Portal | ITPR2 [ Somatic mutations - Copy number] |
Somatic Mutations in Cancer : COSMIC | ITPR2 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | ITPR2 |
Mutations and Diseases : HGMD | ITPR2 |
LOVD (Leiden Open Variation Database) | Whole genome datasets |
LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
BioMuta | search ITPR2 |
DgiDB (Drug Gene Interaction Database) | ITPR2 |
DoCM (Curated mutations) | ITPR2 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | ITPR2 (select a term) |
intoGen | ITPR2 |
Cancer3D | ITPR2(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
---|
OMIM | 106190 600144 |
Orphanet | |
DisGeNET | ITPR2 |
Medgen | ITPR2 |
Genetic Testing Registry | ITPR2
|
NextProt | Q14571 [Medical] |
GENETests | ITPR2 |
Target Validation | ITPR2 |
Huge Navigator |
ITPR2 [HugePedia] |
ClinGen | ITPR2 |
| Clinical trials, drugs, therapy |
---|
MyCancerGenome | ITPR2 |
Protein Interactions : CTD | |
Pharm GKB Gene | PA29979 |
Pharos | Q14571 |
Clinical trial | ITPR2 |
| Miscellaneous |
---|
canSAR (ICR) | ITPR2 (select the gene name) |
Harmonizome | ITPR2 |
DataMed Index | ITPR2 |
| Probes |
---|
| Litterature |
---|
PubMed | 76 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | ITPR2 |