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ITPR2 inositol 1,4,5-trisphosphate receptor type 2 [ Homo sapiens (human) ]

Gene ID: 3709, updated on 3-Nov-2024

Summary

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Official Symbol
ITPR2provided by HGNC
Official Full Name
inositol 1,4,5-trisphosphate receptor type 2provided by HGNC
Primary source
HGNC:HGNC:6181
See related
Ensembl:ENSG00000123104 MIM:600144; AllianceGenome:HGNC:6181
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANHD; IP3R2; CFAP48; INSP3R2
Summary
The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
Expression
Ubiquitous expression in liver (RPKM 15.0), kidney (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

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See ITPR2 in Genome Data Viewer
Location:
12p11.23
Exon count:
62
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26335352..26833194, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26207897..26705197, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26488285..26986127, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369705 Neighboring gene uncharacterized LOC105369704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6122 Neighboring gene uncharacterized LOC107984482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6123 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:26512284-26513483 Neighboring gene RNA, 5S ribosomal pseudogene 354 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26662897-26663668 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26952 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26967 Neighboring gene NANOG hESC enhancer GRCh37_chr12:26726101-26726602 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26796645-26797336 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:26800684-26801883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6125 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:26881161-26881390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:26896687-26897188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:26937397-26938110 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:26939539-26940250 Neighboring gene uncharacterized LOC124902903 Neighboring gene uncharacterized LOC124902902 Neighboring gene enoyl-CoA hydratase domain containing 2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4304 Neighboring gene Sharpr-MPRA regulatory region 14818 Neighboring gene MPRA-validated peak1624 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:27037949-27038123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091219-27091728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091729-27092237 Neighboring gene integrator complex subunit 13 Neighboring gene FGFR1 oncogene partner 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.
    Title: Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.
  2. Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.
    Title: Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.
  3. 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.
  4. Type 3 Inositol 1,4,5-Trisphosphate Receptor is a Crucial Regulator of Calcium Dynamics Mediated by Endoplasmic Reticulum in HEK Cells.
    Title: Type 3 Inositol 1,4,5-Trisphosphate Receptor is a Crucial Regulator of Calcium Dynamics Mediated by Endoplasmic Reticulum in HEK Cells.
  5. The SNP rs11048526 were significantly association with Kashin-Beck Disease which increased the Kashin-Beck Disease risk.
    Title: Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.
  6. Fatty liver induces a c-Jun-mediated decrease in ITPR2 in hepatocytes.
    Title: Nonalcoholic fatty liver disease impairs expression of the type II inositol 1,4,5-trisphosphate receptor.
  7. Molecular cloning, bacterial expression and protein purification of the IBC domain from human IP3R2 have been described.
    Title: Experimental and theoretical study of IBC domain from human IP3R2; molecular cloning, bacterial expression and protein purification.
  8. we systematically evaluating RCC risk-associated SNPs indentified from previous GWAS in a Chinese population, finding that one SNP located in PDZD2 and two SNPs located in ITPR2 were ccRCC-risk associated in Chinese population.
    Title: Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.
  9. Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR).
    Title: Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.
  10. Data suggest miR-1290 as the new oncomiR involved in laryngeal squamous cell carcinoma pathogenesis probably through downregulation of its target genes MAF and ITPR2.
    Title: Global miRNA Expression Profiling Identifies miR-1290 as Novel Potential oncomiR in Laryngeal Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Isolated anhidrosis with normal sweat glands
MedGen: C5568836 OMIM: 106190 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
EBI GWAS Catalog
Genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese.
EBI GWAS Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
EBI GWAS Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
EBI GWAS Catalog
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
EBI GWAS Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag IP3R differentially associates with HIV-1 wild-type Gag and P7L-Gag, indicating that Gag and IP3R are in proximity at the plasma membrane PubMed
gag Inositol (1,4,5)-triphosphate receptor (IP3R) is required for efficient release of HIV-1 Gag PubMed
gag SPRY-mediated inhibition of HIV-1 Gag release is repressed by IP3R PubMed
Tat tat HIV-1 Tat induces release of calcium from inositol 1,4,5-triphosphate receptor-regulated stores in neurons and astrocytes, an effect that plays an important role in Tat-induced TNF-alpha production PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 transmembrane transporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables inositol 1,4,5-trisphosphate-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to cAMP IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to ethanol IEA
Inferred from Electronic Annotation
more info
  
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to hypoxia IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet dense tubular network membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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

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Preferred Names
inositol 1,4,5-trisphosphate-gated calcium channel ITPR2
Names
IP3 receptor
IP3R 2
cilia and flagella associated protein 48
type 2 InsP3 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.

Genomic

  1. NG_042142.1 RefSeqGene

    Range
    5005..502847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001414174.1 → NP_001401103.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC023051, AC023425, AC024093, AC024145, AC055720

  2. NM_001414175.1 → NP_001401104.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC023051, AC023425, AC024093, AC024145, AC055720

  3. NM_002223.4 → NP_002214.2  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform 1

    See identical proteins and their annotated locations for NP_002214.2

    Status: REVIEWED

    Source sequence(s)
    AC024093, AC055720, AI339141, AL711179, BE439696, BP314401, BP364657, BU173910, BX495410, CA419735, D26350, DB144849
    Consensus CDS
    CCDS41764.1
    UniProtKB/Swiss-Prot
    O94773, Q14571
    Related
    ENSP00000370744.3, ENST00000381340.8
    Conserved Domains (7) summary
    smart00472
    Location:294 → 342
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    26335352..26833194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019266.2 → XP_016874755.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X1

  2. XM_047428801.1 → XP_047284757.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X2

  3. XM_017019269.3 → XP_016874758.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X3

RNA

  1. XR_001748686.3 RNA Sequence

  2. XR_001748687.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    26207897..26705197 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371970.1 → XP_054227945.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X1

  2. XM_054371971.1 → XP_054227946.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X2

  3. XM_054371972.1 → XP_054227947.1  inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 isoform X3

RNA

  1. XR_008488578.1 RNA Sequence

  2. XR_008488579.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14571.2 GenPept UniProtKB/Swiss-Prot:Q14571

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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