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

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: human all
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Genomic context

Location:: 6 G3; 6 77.7 cM

Exon count:: 58

Annotation release	Status	Assembly	Chr	Location
109	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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In Vivo Structural and Functional Abnormalities of the Striatums Is Related to Decreased Astrocytic BDNF in Itpr2(-/-) Mice Exhibiting Depressive-Like Behavior.
Title: In Vivo Structural and Functional Abnormalities of the Striatums Is Related to Decreased Astrocytic BDNF in Itpr2(-/-) Mice Exhibiting Depressive-Like Behavior.
Impaired calcium signaling in astrocytes modulates autism spectrum disorder-like behaviors in mice.
Title: Impaired calcium signaling in astrocytes modulates autism spectrum disorder-like behaviors in mice.
Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging.
Title: Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging.
Knockdown of Tcirg1 inhibits large-osteoclast generation by down-regulating NFATc1 and IP3R2 expression.
Title: Knockdown of Tcirg1 inhibits large-osteoclast generation by down-regulating NFATc1 and IP3R2 expression.
Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development.
Title: Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development.
Absence of IP3 R2-mediated signaling did not disrupt normal learning or recent (24-48 h) memory. Not only did the lack of IP3 R2 impair remote recognition, fear, and spatial memories, but it also prevented naturally occurring post-encoding memory enhancements consequent to memory consolidation. NMDAR-dependent long-term depression was abnormal in ex vivo hippocampal slices acutely prepared from IP3 R2-deficient mice.
Title: Impairments in remote memory caused by the lack of Type 2 IP(3) receptors.
Nuclear Ca(2+) in cardiac myocytes increases via IP3R2 upon Ang II stimulation. IP3R2 expression is directly dependent on calcineurin/NFAT.
Title: Nuclear calcineurin is a sensor for detecting Ca(2+) release from the nuclear envelope via IP(3)R.
Calcium responses occurred in both astrocyte processes and endfeet that rapidly followed neuronal events ( approximately 120 ms after). These fast astrocyte responses were largely independent of IP3R2-mediated signaling.
Title: Cortical Circuit Activity Evokes Rapid Astrocyte Calcium Signals on a Similar Timescale to Neurons.
In IP3 R2-knock-out mice, calcium release was still found from astrocytes in the endoplasmic reticulum, independent of IP3 R2 regulation.
Title: Inositol 1,4,5-trisphosphate receptor type 2-independent Ca(2+) release from the endoplasmic reticulum in astrocytes.
Inositol 1,4,5-trisphosphate receptors (IP3Rs) are required for the hematopoietic and cardiac fate divergence of mouse embryonic stem cells. Deletion of IP3Rs (IP3R-tKO) reduced Flk1+/PDGFRalpha- hematopoietic mesoderm, c-Kit+/CD41+ hematopoietic progenitor cell population, and the colony-forming unit activity, but increased cardiac progenitor markers as well as cardiomyocytes.
Title: IP3R-mediated Ca2+ signals govern hematopoietic and cardiac divergence of Flk1+ cells via the calcineurin-NFATc3-Etv2 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

35.MMHAP94FLD5.seq (e-PCR)
- UniSTS:124164

D6Mit294 (e-PCR), detects polymorphism
- UniSTS:130844

D4M6Mit295 (e-PCR)
- UniSTS:130845

D6Mit295 (e-PCR), detects polymorphism
- UniSTS:130845

AI649341 (e-PCR)
- UniSTS:179496

Z71173 (e-PCR)
- UniSTS:163405

14.MMHAP57FLE2.seq (e-PCR)
- UniSTS:123218

Sspn (e-PCR), detects polymorphism
- UniSTS:143724

D6Mit15 (e-PCR), detects polymorphism
- UniSTS:116332

D6Mit371 (e-PCR), detects polymorphism
- UniSTS:130926

Y83m2c2 (e-PCR), detects polymorphism
- UniSTS:144805

BB062653 (e-PCR)
- UniSTS:208052

12.MMHAP34FLD3.seq (e-PCR)
- UniSTS:123115

MHAa52a5.seq (e-PCR)
- UniSTS:125182

Homology

Homologs of the Itpr2 gene: The Itpr2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 469 organisms have orthologs with human gene Itpr2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol 1,4,5 trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables inositol 1,4,5 trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
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 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
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation 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 cytoplasm	ISO Inferred from Sequence Orthology more info
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	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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	PubMed
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	PubMed

General protein information

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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)

NM_010586.2 → NP_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:261 → 291

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

pfam00520
Location:2273 → 2519

Ion_trans; Ion transport protein

pfam01365
Location:442 → 632

RYDR_ITPR; RIH domain

pfam02815
Location:199 → 399

MIR; MIR domain

pfam08454
Location:1884 → 1989

RIH_assoc; RyR and IP3R Homology associated

pfam08709
Location:4 → 192

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

cl07918
Location:2224 → 2384

Virul_fac_BrkB; Virulence factor BrkB
NM_019923.4 → NP_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

Q8R3B0, Q9Z329

UniProtKB/TrEMBL

Q8CED6

Related

ENSMUSP00000049584.9, ENSMUST00000053273.15

Conserved Domains (7) summary

smart00472
Location:294 → 324

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

pfam00520
Location:2306 → 2552

Ion_trans; Ion transport protein

pfam01365
Location:475 → 665

RYDR_ITPR; RIH domain

pfam02815
Location:232 → 432

MIR; MIR domain

pfam08454
Location:1917 → 2022

RIH_assoc; RyR and IP3R Homology associated

pfam08709
Location:4 → 225

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

cl07918
Location:2257 → 2417

Virul_fac_BrkB; Virulence factor BrkB

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

146009797..146403757 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507026.5 → XP_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:473 → 670

RYDR_ITPR; RIH domain

pfam02815
Location:232 → 432

MIR; MIR domain

pfam08454
Location:1917 → 2022

RIH_assoc; RyR and IP3R Homology associated

pfam08709
Location:4 → 225

Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor