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GIFtS

ITPR2 Gene

protein-coding   GIFtS: 61
GCID: GC12M026390

inositol 1,4,5-trisphosphate receptor, type 2

(Previous names: inositol 1,4,5-triphosphate receptor, type 2 )
 Explore 15 diseases affiliated with
ITPR2 via
MalaCards
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 Human Malady Compendium 
Biological research products
for ITPR2    

Aliases
for ITPR2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 21 2     Inositol 1,4,5-Trisphosphate Receptor Type 22
IP3R21 2     InsP3R23
Inositol 1,4,5-Triphosphate Receptor, Type 21 2     IP3 Receptor2
Type 2 Inositol 1,4,5-Trisphosphate Receptor2 3     InsP3R23
Type 2 InsP3 Receptor2 3     IP3 Receptor Isoform 23
IP3R 22 3     

External Ids:    HGNC: 61811   Entrez Gene: 37092   Ensembl: ENSG000001231047   OMIM: 6001445   UniProtKB: Q145713   

Export aliases for ITPR2 gene to outside databases

Previous GC identifers: GC12M026850 GC12M026502 GC12M026381 GC12M026377 GC12M026258


Summaries
for ITPR2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
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)

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.

Gene Wiki entry for ITPR2


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITPR2 gene promoter:
         LUN-1   CBF-C   C/EBPalpha   SRY   CBF-A   CBF-B   FOXO4   CP1C   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITPR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITPR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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: 12p11.23

ITPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPR2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M026390:  view genomic region     (about GC identifiers)

Start:
 26,488,285 bp from pter      End:
 26,986,131 bp from pter
Size:
 497,847 bases      Orientation:
 minus strand

Proteins
for ITPR2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 distinct
calcium-binding protein which then inhibits the receptor
Secondary accessions: O94773
Alternative splicing: 2 isoforms:  Q14571-1   Q14571-2   

Explore the universe of human proteins at neXtProt for ITPR2: NX_Q14571

Post-translational modifications:

  • Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14571

    • ITPR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002214.2  
    ENSEMBL proteins: 
     ENSP00000370744   ENSP00000408287   ENSP00000440548   ENSP00000242737  
    Reactome Protein details: Q14571
    Human Recombinant Protein Products: 
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    Uscn Proteins for ITPR2

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001950plasma membrane enriched fraction ----
    GO:0005737cytoplasm ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0005886plasma membrane IDA10828023


    ITPR2 for ontologies           About GeneDecksing



    ITPR2 Antibody Products: 
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    Uscn ELISAs and CLIAs 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

    5/7 InterPro domains/families (see all 7):
     IPR014821 Ins145_P3_rcpt
     IPR000699 Ca-rel_channel
     IPR013662 RIH_assoc-dom
     IPR005821 Ion_trans_dom
     IPR000493 InsP3_rcpt-bd

    Graphical View of Domain Structure for InterPro Entry Q14571

    ProtoNet 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, Q14571
    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
    Similarity: Belongs to the InsP3 receptor family
    Similarity: Contains 5 MIR domains


    Function
    for ITPR2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
    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)

         Genatlas biochemistry entry for ITPR2:
    inositol 1,4,5-triphosphate receptor,type 2,coexpressed with RYR3 in neurons and smooth muscle cells forming
    heterotetrameric channel with ITPR1 and ITPR3,involved in mobilization from the endoplastic reticulum,highly sensitive
    to IP3,required for long lasting,regular Ca++ oscillations,transcriptionally regulated during myelopoiesis target of
    EVI-1 and EVI1-VP16 fusion gene

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPR2
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPR2 (see all 54):
    hsa-miR-4291 hsa-miR-106a hsa-miR-605 hsa-miR-488 hsa-miR-570 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmid: ITPR2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPR2 (see all 7)
    OriGene shRNA RFP: ITPR2
    OriGene siRNA: ITPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPR2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ITPR2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPR2 (see all 4)
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR2

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005220inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA--
    GO:0015085calcium ion transmembrane transporter activity TAS8081734
    GO:0015278calcium-release channel activity ----
    GO:0035091phosphatidylinositol binding IEA--


    ITPR2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ITPR2: Itpr2tm1Kmik Itpr2tm1.1Chen
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Itpr2):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    ITPR2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ITPR2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/83 super-pathways (see all 83) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    2Development Angiotensin activation of ERK
    8/9 pathways (see all 9)
    		Development Angiotensin activation of ERK1.00
    		Development G-Proteins mediated regulation MARK-ERK signaling0.66
    		Development_Angiotensin activation of ERK0.98
    		Development_EDNRB signaling0.54
    		Development_ACM2 and ACM4 activation of ERK0.74
    		Development EDNRB signaling0.54
    		Development ACM2 and ACM4 activation of ERK0.74
    		Cholinergic synapse0.30
    3Development_A3 receptor signaling
    		Development_A3 receptor signaling1.00
    		Development A1 receptor signaling0.65
    		Development A3 receptor signaling1.00
    		G-protein signaling_G-Protein alpha-q signaling cascades0.53
    		Development_A1 receptor signaling0.65
    		G-protein signaling G-Protein alpha-q signaling cascades0.53
    4Development_Endothelin-1/EDNRA transactivation of EGFR
    		Development_Endothelin-1/EDNRA transactivation of EGFR1.00
    		Development_Endothelin-1/EDNRA signaling0.41
    		Development Endothelin-1/EDNRA transactivation of EGFR1.00
    		Cytoskeleton remodeling_FAK signaling0.41
    		Development Endothelin-1/EDNRA signaling0.41
    		Cytoskeleton remodeling FAK signaling0.41
    5DAG and IP3 signaling
    		DAG and IP3 signaling1.00
    		PLCG1 events in ERBB2 signaling0.91
    		PLC-gamma1 signalling0.94
    		Phospholipase C-mediated cascade0.57
    		EGFR interacts with phospholipase C-gamma0.94

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/39 EMD Millipore Pathways for ITPR2 (see all 39)
        Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling FAK signaling
    Signal transduction IP3 signaling

    5/47 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITPR2 (see all 47)
        Fc-GammaR Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    PI3K Signaling in B-Lymphocyte
    PACAP Signaling

    5/41 GeneGo (Thomson Reuters) Pathways for ITPR2 (see all 41)
        Development FGF-family signaling
    Development Endothelin-1/EDNRA signaling
    Immune response CD28 signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Development VEGF-family signaling

    4 BioSystems Pathways for ITPR2 
        Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways
    Alzheimers Disease
    B Cell Receptor Signaling Pathway

    5/44        Reactome Pathways for ITPR2 (see all 44)
        Platelet homeostasis
    Signaling by EGFR in Cancer
    Elevation of cytosolic Ca2+ levels
    Downstream signal transduction
    Signal Transduction


    5/14         Kegg Pathways  (Kegg details for ITPR2) (see all 14):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ITPR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITPR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for ITPR2 (Q145712, 3 ENSP000003707444) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPC4Q9UBN42, 3, ENSP000003690034MINT-14530 MINT-14529 I2D: score=3 STRING: ENSP00000369003
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    BANK1Q8NDB23, ENSP000003205094I2D: score=1 STRING: ENSP00000320509
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    RAC1P630003I2D: score=2 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0006112energy reserve metabolic process TAS--
    GO:0006810transport TAS8081734
    GO:0006816calcium ion transport ----
    GO:0007165signal transduction TAS--


    ITPR2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ITPR2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITPR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ITPR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    2-APBIP3 receptor antagonist. Also TRP channel modulator[524-95-8]

    2 HMDB Compounds for ITPR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--
    3 Novoseek chemical compound relationships for ITPR2 gene    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about ITPR2 

    Transcripts
    for ITPR2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ITPR2 gene: 
    NM_002223.2  

    Unigene Cluster for ITPR2:

    Inositol 1,4,5-trisphosphate receptor, type 2
    Hs.512235  [show with all ESTs]
    Unigene Representative Sequence: NM_002223
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381340(uc001rhg.3 uc009zjg.1 uc001rhh.1 uc001rhi.1)
    ENST00000451599 ENST00000538984 ENST00000540429 ENST00000543958 ENST00000545902
    ENST00000540791 ENST00000545235 ENST00000242737 ENST00000536627

    miRNA
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    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPR2 (see all 54):
    hsa-miR-4291 hsa-miR-106a hsa-miR-605 hsa-miR-488 hsa-miR-570 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmid: ITPR2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPR2 (see all 7)
    OriGene shRNA RFP: ITPR2
    OriGene siRNA: ITPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPR2
    Clone
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    Primer
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    Additional cDNA sequence: 

    AB012610.1 AK307686.1 AK307712.1 AK310504.1 AY429550.1 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.95220632  DT.92030662 

    24/184 AceView cDNA sequences (see all 184):

    BQ049409 BX103595 BX506844 AI040623 AA479246 AI264554 AA311523 BM851536 
    AI281517 BM834732 AI000717 AW044646 BM919068 AA705345 AA152014 AV725895 
    BM822179 BQ025344 T29911 CB156970 F03841 F07593 BE745875 CA308243 

    GeneLoc Exon Structure


    Expression
    for ITPR2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITPR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGAAAATCGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ITPR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ITPR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITPR2

    SOURCE GeneReport for Unigene cluster: Hs.512235

    UniProtKB/Swiss-Prot: ITPR2_HUMAN, Q14571
    Tissue specificity: Isoform Short is found in skeletal muscle and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including ITPR2: 
              Hypertension in human mouse rat
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
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    Orthologs
    for ITPR2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ITPR2 gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ITPR21 inositol 1,4,5-trisphosphate receptor, type 2 83.15(n)
    93.07(a)    		   418212  XM_001235612.2  XP_001235613.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 91(a)
    5(a)
    		 1 ↔ 1
    possible ortholog
    		 5(90786292-90999239)
    GL344770.1(13345-20285)
    zebrafish
    (Danio rerio)    		 Actinopterygii itpr26
    CABZ01099885.16
    (see all 3)    		 --
    		 73(a)
    4(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 18(15616686-15721490)
    Zv9_NA124(8681-20406)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Itp-r83A3 molting cycle (sensu Insecta)
    inositol-1,4,5-triphosphate more    		 54(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea itr-13 inositol 1,4,5-triphosphate receptor 36(a)   IV(7675362-7696891)   --


    ENSEMBL Gene Tree for ITPR2 (if available)
    TreeFam Gene Tree for ITPR2 (if available) 

    Paralogs
    for ITPR2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITPR2 gene
    RYR22  ITPR32  ITPR12  RYR12  RYR32  
    2 SIMAP similar genes for ITPR2 using alignment to 4 protein entries:     ITPR2_HUMAN (see all proteins):
    ITPR1    ITPR3

    ITPR2 for paralogs           About GeneDecksing



    Genomic Variants
    for ITPR2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8719 NCBI SNPs in ITPR2 are shown (see all 8719)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1897589241,2
    		--26487839(+) AGGAAC/TTGTGG 1 -- ds50010--------
    rs1811605061,2
    		--26487873(+) ACAAAG/TAATTC 1 -- ds50010--------
    rs763354701,2
    		--26487914(+) CCATGC/TTGACT 1 -- ds50010--------
    rs1861515061,2
    		--26488022(+) CCCACG/TGAGCT 1 -- ds50010--------
    rs1412942731,2
    		--26488080(+) ATTGGA/GGAATT 1 -- ds50010--------
    rs1173679361,2
    		--26488122(+) GTCCAT/ACTGGA 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs73023441,2
    		C,F,A,H,--26488182(+) TTGCTA/GTGTAA 1 -- ds500118Minor allele frequency- G:0.31NS EA NA WA 2340
    rs1889057451,2
    		--26488310(+) TAACAC/TTCACT 1 -- ut310--------
    rs1502321741,2
    		--26488345(+) TATTGA/GAATCG 1 -- ut310--------
    rs1174022011,2
    		C,F,--26488376(+) NNNNCC/TTCTAC 1 -- ut311Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for ITPR2 (26488285 - 26738285 bp, first 250kb of ITPR2)
    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

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    Disorders / Diseases
    for ITPR2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ITPR2 for disorders           About GeneDecksing

    OMIM gene information: 600144    OMIM disorders: --

    15 diseases for ITPR2:    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    myxoma    sjogren's syndrome
    hepatitis b    liver cancer    pharyngitis    hepatitis
    hypoxia    pancreatitis    neuronitis    huntington's disease
    glioblastoma    breast cancer    retinitis

    Human Genome Epidemiology (HuGE) Navigator: ITPR2 (13 documents)

    Export disorders for ITPR2 gene to outside databases

    Publications
    for ITPR2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITPR2 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with ITPR2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. (PubMed id 17827064)1, 9 van Es M.A....van den Berg L.H. (2007)
    4. Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP. (PubMed id 18936250)1, 9 Tovey S.C....Taylor C.W. (2008)
    5. A genome-wide association study identifies a novel sus ceptibility locus for renal cell carcinoma on 12p11.23. (PubMed id 22010048)1 Wu X....Chanock S.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Distribution and functional role of inositol 1,4,5-tr isphosphate receptors in mouse sinoatrial node. (PubMed id 21852551)1 Ju Y.K....Allen D.G. (2011)
    9. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PubMed id 19464757)1 FernA!ndez-Santiago R....Gasser T. (2011)
    10. Sprouty2 regulates PI(4,5)P2/Ca2+ signaling and HIV-1 Gag release. (PubMed id 21762810)1 Ehrlich L.S....Carter C.A. (2011)

    External Searches for ITPR2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ITPR2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3709 HGNC: 6181 AceView: ITPR2 Ensembl:ENSG00000123104 euGenes: HUgn3709
    ECgene: ITPR2 Kegg: 3709 H-InvDB: ITPR2

    Other Databases showing ITPR2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ITPR2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITPR2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ITPR2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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