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

Gene ID: 16439, updated on 18-Apr-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-sensitive calcium-release 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, Apr 2022]
Expression
Broad expression in thymus adult (RPKM 9.6), kidney adult (RPKM 6.8) and 23 other tissues See more
Orthologs
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Genomic context

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)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

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 calcium channel activity 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 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 monoatomic ion channel activity 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 ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane transporter binding 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 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 membrane 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 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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
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)

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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 receptor type 2 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 receptor type 2 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