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    Itpr2 inositol 1,4,5-triphosphate receptor 2 [ Mus musculus (house mouse) ]

    Gene ID: 16439, updated on 9-Dec-2024

    Summary

    Official Symbol
    Itpr2provided by MGI
    Official Full Name
    inositol 1,4,5-triphosphate receptor 2provided by MGI
    Primary source
    MGI:MGI:99418
    See related
    Ensembl:ENSMUSG00000030287 AllianceGenome:MGI:99418
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ip3r2; Itpr5; insP3R2; InsP3R-2; InsP3R-5
    Summary
    Enables inositol 1,4,5-trisphosphate-gated calcium channel activity and phosphatidylinositol binding activity. Involved in cellular response to cAMP. Acts upstream of or within calcium ion transport and cellular response to ethanol. Located in cell cortex and sarcoplasmic reticulum. Is expressed in several structures, including heart; liver; medulla oblongata; skeletal muscle; and spleen. Used to study isolated anhidrosis with normal sweat glands. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and isolated anhidrosis with normal sweat glands. Orthologous to human ITPR2 (inositol 1,4,5-trisphosphate receptor type 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in thymus adult (RPKM 9.6), kidney adult (RPKM 6.8) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Itpr2 in Genome Data Viewer
    Location:
    6 G3; 6 77.7 cM
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (146009797..146403757, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (146108299..146502258, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32838 Neighboring gene STARR-positive B cell enhancer ABC_E3692 Neighboring gene predicted gene, 32914 Neighboring gene STARR-seq mESC enhancer starr_17794 Neighboring gene predicted gene, 35544 Neighboring gene predicted gene, 53273 Neighboring gene STARR-seq mESC enhancer starr_17795 Neighboring gene predicted gene, 35768 Neighboring gene STARR-positive B cell enhancer ABC_E6503 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:146170565-146170718 Neighboring gene predicted gene, 35707 Neighboring gene STARR-seq mESC enhancer starr_17797 Neighboring gene predicted gene, 35596 Neighboring gene STARR-seq mESC enhancer starr_17798 Neighboring gene STARR-positive B cell enhancer ABC_E4883 Neighboring gene STARR-positive B cell enhancer mm9_chr6:146358433-146358734 Neighboring gene STARR-seq mESC enhancer starr_17800 Neighboring gene predicted gene, 53315 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:146430030-146430213 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:146438434-146438668 Neighboring gene predicted gene, 53317 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:146470563-146470746 Neighboring gene STARR-positive B cell enhancer ABC_E10421 Neighboring gene predicted gene, 53316 Neighboring gene integrator complex subunit 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables inositol 1,4,5 trisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables inositol 1,4,5 trisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables inositol 1,4,5 trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables inositol 1,4,5-trisphosphate-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables inositol 1,4,5-trisphosphate-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables inositol 1,4,5-trisphosphate-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables intracellularly gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables scaffold protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to ethanol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in secretory granule membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    inositol 1,4,5-trisphosphate-gated calcium channel ITPR2; inositol 1,4,5-trisphosphate receptor type 2
    Names
    IP3 receptor
    IP3R 2
    inositol 1,4,5-triphosphate receptor 5
    inositol 1,4,5-trisphosphate type V receptor
    inositol trisphosphate receptor type 2
    type 2 InsP3 receptor
    type 2 inositol 1,4,5-trisphosphate receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010586.2NP_034716.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 2

      See identical proteins and their annotated locations for NP_034716.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks one exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AB182290, AK028484, AK046210, AK143206, AW049374
      Consensus CDS
      CCDS39708.1
      UniProtKB/Swiss-Prot
      Q9Z329
      UniProtKB/TrEMBL
      Q8CED6
      Related
      ENSMUSP00000078526.7, ENSMUST00000079573.13
      Conserved Domains (7) summary
      smart00472
      Location:261291
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:22732519
      Ion_trans; Ion transport protein
      pfam01365
      Location:442632
      RYDR_ITPR; RIH domain
      pfam02815
      Location:199399
      MIR; MIR domain
      pfam08454
      Location:18841989
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4192
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      cl07918
      Location:22242384
      Virul_fac_BrkB; Virulence factor BrkB
    2. NM_019923.4NP_064307.2  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 1

      See identical proteins and their annotated locations for NP_064307.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB182288, AK028484, AK046210, AK143206, AW049374
      Consensus CDS
      CCDS39709.1
      UniProtKB/Swiss-Prot
      B2KF91, P70226, Q5DWM3, Q5DWM5, Q61744, Q8R3B0, Q9Z329
      Related
      ENSMUSP00000049584.9, ENSMUST00000053273.15
      Conserved Domains (7) summary
      smart00472
      Location:294324
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23062552
      Ion_trans; Ion transport protein
      pfam01365
      Location:475665
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232432
      MIR; MIR domain
      pfam08454
      Location:19172022
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4225
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      cl07918
      Location:22572417
      Virul_fac_BrkB; Virulence factor BrkB

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      146009797..146403757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507026.5XP_006507089.1  inositol 1,4,5-trisphosphate receptor type 2 isoform X1

      See identical proteins and their annotated locations for XP_006507089.1

      Conserved Domains (4) summary
      pfam01365
      Location:473670
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232432
      MIR; MIR domain
      pfam08454
      Location:19172022
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4225
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor