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ITPR2 Gene

protein-coding   GIFtS: 60

GC12M026258
inositol 1,4,5-triphosphate receptor, type 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(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

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

Export aliases for ITPR2 gene to outside databases

Previous GC identifers: GC12M026850 GC12M026502 GC12M026390 GC12M026381 GC12M026377


(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, Q14571
Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
calcium

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.


(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: 12p11.23

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 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  

(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 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:

  • 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 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for ITPR2 
    Novus Biologicals Protein for ITPR2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/12 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 12):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001950 plasma membrane enriched fraction IDA10828023
    GO:0005737 cytoplasm IEA--
    GO:0005783 endoplasmic reticulum ----
    GO:0005792 microsome IEA--
    GO:0005938 cell cortex IEA--
    About this table

    ITPR2 for ontologies           About GeneDecksing



    Antibodies for ITPR2: 
    Millipore Mono- and Polyclonal Antibodies for the study of ITPR2
    Sigma-Aldrich Antibodies for ITPR2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ITPR2 
    Novus Biologicals Antibody for ITPR2
    Browse antibodies at Epitomics

    Assays for ITPR2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ITPR2 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ITPR2 


    (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):
     IPR014821 Ins145_P3_rcpt
     IPR000699 Ca-rel_channel
     IPR003608 MIR
     IPR013662 RIH_assoc-dom
     IPR005821 Ion_trans

    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


    (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, Q14571
    Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular
    calcium

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ITPR2
    Sigma-Aldrich shRNA for ITPR2
    OriGene 29mer shRNA kits in GFP-retroviral vector: ITPR2
    OriGene shRNA RFP: ITPR2
    OriGene basic RS shRNA: ITPR2
    OriGene siRNA: ITPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ITPR2 
    miRNA:Sigma-Aldrich microRNA Mimics for ITPR2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ITPR2 
    8/12 SABiosciences Assays for microRNAs that regulate ITPR2 (see all 12):
    hsa-miR-203 hsa-miR-495 hsa-miR-922 hsa-miR-1271 hsa-miR-340 hsa-miR-1305 hsa-miR-483-3p hsa-miR-542-3p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: ITPR2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ITPR2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ITPR2
    OriGene 3'-UTR clone: ITPR2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ITPR2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ITPR2 

    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

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed 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 TAS8081734
    About this table

    ITPR2 for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Itpr2):

    behavior/neurologicalcardiovascular systemdigestive/alimentaryendocrine/exocrine glandgrowth/size
    homeostasis/metabolismlife span-post-weaning/agingno phenotypic analysisnormal

    ITPR2 for phenotypes           About GeneDecksing


    (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)
        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

    5/30 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ITPR2 (see all 30)
        Aldosterone Signaling in Epithelial Cells
    Corticotropin Releasing Hormone Signaling
    Breast Cancer Regulation by Stathmin1
    iCOS-iCOSL Signaling in T Helper Cells
    Role of NFAT in Regulation of the Immune Response

    5/12 Kegg Pathways  (Kegg details for ITPR2) (see all 12):
        hsa04020 Calcium signaling pathway
    hsa04070 Phosphatidylinositol signaling system
    hsa04114 Oocyte meiosis
    hsa04270 Vascular smooth muscle contraction
    hsa04540 Gap junction

        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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPC4Q9UBN42MINT-14530 MINT-14529
    GNAQENSP000002865483STRING: ENSP00000286548
    INPP5AENSP000003575833STRING: ENSP00000357583
    ITPKBENSP000002721173STRING: ENSP00000272117
    ITPR1ENSP000003490293STRING: ENSP00000349029
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666 response to hypoxia IDA19120137
    GO:0006112 energy reserve metabolic process TAS--
    GO:0006810 transport TAS8081734
    GO:0006811 ion transport IEA--
    GO:0006816 calcium ion transport IEA--
    About this table

    ITPR2 for ontologies           About GeneDecksing



    (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

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ITPR2 available from Tocris Bioscience
    CompoundAction CAS number
    2-APBIP3 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



    (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

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ITPR2
    Sigma-Aldrich shRNA for ITPR2
    OriGene 29mer shRNA kits in GFP-retroviral vector: ITPR2
    OriGene shRNA RFP: ITPR2
    OriGene basic RS shRNA: ITPR2
    OriGene siRNA: ITPR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ITPR2 
    miRNA: Sigma-Aldrich microRNA Mimics for ITPR2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ITPR2 
    8/12 SABiosciences Assays for microRNAs that regulate ITPR2 (see all 12):
    hsa-miR-203 hsa-miR-495 hsa-miR-922 hsa-miR-1271 hsa-miR-340 hsa-miR-1305 hsa-miR-483-3p hsa-miR-542-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: ITPR2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ITPR2
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ITPR2
    OriGene 3'-UTR Clone: ITPR2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ITPR2 
    Primers: OriGene genome-wide validated SYBR primer pairs: ITPR2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ITPR2: PPH23073A

    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)


    (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
    ITPR2 gene expression
    ITPR2 gene electronic northern expression
    ITPR2 gene sage expression
    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, Q14571
    Tissue specificity: Isoform Short is found in skeletal muscle and heart

    Primers: OriGene genome-wide validated SYBR primer pairs: ITPR2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ITPR2: PPH23073A
        SABiosciences Expression via Pathway-Focused PCR Arrays including ITPR2: PAHS-037A PAHS-095A 


    (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 according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for ITPR2 gene
    ITPR32  ITPR12  

    ITPR2 for paralogs           About GeneDecksing



    (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

    10/4941 NCBI SNPs in ITPR2 are shown (see all 4941)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs25701,2
    C,F,A,26491838(-) GAGAGT/CTGAAA 1 -- ut31 ese318Minor allele frequency- C:0.45MN NS EA NA WA 1246
    rs46541,2
    C,F,A,H,26490155(+) CCCTAT/CAAAAT 1 -- ut3196Minor allele frequency- C:0.45NS MN NA EA PA EU CA WA 5092
    rs83111,2
    C,F,A,H,26490090(-) CCACTG/TTGTAG 1 -- ut3114Minor allele frequency- T:0.44MN NS EA NA WA 960
    rs94421,2
    C,F,O,A,26488505(-) AAAATC/TGAGAA 1 -- ut3115Minor allele frequency- N:0.00MN NS EA NA WA 1220
    rs7081561,2
    C,F,A,26692372(-) TGTAGG/ACTTTG 1 -- int196Minor allele frequency- A:0.37NS MN EA PA EU CA WA NA 4908
    rs7280081,2
    C,F,O,A,26941853(+) CTTTTG/CGGTCA 1 -- int192Minor allele frequency- C:0.19NS MN EA PA EU CA WA NA 4776
    rs7280091,2
    C,F,O,A,26941706(+) TGCTAC/TATTCT 1 -- int194Minor allele frequency- G:0.00NS MN NA EA PA EU CA WA 4888
    rs7321491,2
    C,F,O,A,H,26858291(+) CTTTGC/TGAAGT 1 -- int120Minor allele frequency- T:0.39MN NS EA NA WA 3050
    rs7321501,2
    C,F,O,26859214(-) CCAGAG/ATTGTA 1 -- int19Minor allele frequency- A:0.16NA NS EA 722
    rs7441801,2
    C,F,A,H,26858527(+) CTTCCC/TTAGTG 1 -- int110Minor allele frequency- T:0.40NS EA MN NA WA 818
    About this table

    HapMap 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 

    (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

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (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)
    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, 7 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, 7 Tovey S.C....Taylor C.W. (2008)
    5. 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)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3709 HGNC: 6181 AceView: ITPR2 Ensembl:ENSG00000123104 euGenes: HUgn3709
    ECgene: ITPR2 Kegg: 3709 H-InvDB: ITPR2

    (According to HUGE)
    About This Section
      --

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for ITPR2 gene:
    Search GeneIP for patents involving ITPR2

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