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

Gene ID: 3709, updated on 17-Nov-2020

Summary

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
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

Genomic context

See ITPR2 in Genome Data Viewer
Location:
12p11.23
Exon count:
62
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (26335352..26833197, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26488285..26986131, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369705 Neighboring gene uncharacterized LOC105369704 Neighboring gene uncharacterized LOC107984482 Neighboring gene RNA, 5S ribosomal pseudogene 354 Neighboring gene uncharacterized LOC105369706 Neighboring gene enoyl-CoA hydratase domain containing 2 pseudogene Neighboring gene integrator complex subunit 13 Neighboring gene FGFR1 oncogene partner 2 Neighboring gene transmembrane 7 superfamily member 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
GeneReviews: Not available
Anhidrosis, isolated, with normal sweat glands
MedGen: C1862871 OMIM: 106190 GeneReviews: Not available
not available
Genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese.
GeneReviews: Not available
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
GeneReviews: Not available
Genome-wide association study of smoking behaviours among Bangladeshi adults.
GeneReviews: Not available
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
GeneReviews: Not available
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
inositol phosphate-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_002223.4NP_002214.2  inositol 1,4,5-trisphosphate receptor type 2

    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
    Q14571
    Related
    ENSP00000370744.3, ENST00000381340.8
    Conserved Domains (7) summary
    smart00472
    Location:294342
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    26335352..26833197 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019266.1XP_016874755.1  inositol 1,4,5-trisphosphate receptor type 2 isoform X1

  2. XM_017019267.1XP_016874756.1  inositol 1,4,5-trisphosphate receptor type 2 isoform X2

  3. XM_017019269.2XP_016874758.1  inositol 1,4,5-trisphosphate receptor type 2 isoform X3

RNA

  1. XR_001748686.2 RNA Sequence

  2. XR_001748687.1 RNA Sequence

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