ITPR2 Gene (Protein Coding)

Inositol 1,4,5-Trisphosphate Receptor Type 2

GC12M026336
GIFtS:
46
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 includin... See more...

Aliases for ITPR2 Gene

Aliases for ITPR2 Gene

  • Inositol 1,4,5-Trisphosphate Receptor Type 2 2 3 4 5
  • Cilia And Flagella Associated Protein 48 2 3
  • Type 2 InsP3 Receptor 3 4
  • IP3R 2 3 4
  • Inositol 1,4,5-Trisphosphate Receptor, Type 2 2
  • Type 2 Inositol 1,4,5-Trisphosphate Receptor 4
  • Inositol 1,4,5-Triphosphate Receptor, Type 2 2
  • IP3 Receptor Isoform 2 4
  • IP3 Receptor 3
  • INSP3R2 3
  • InsP3R2 4
  • CFAP48 3
  • IP3R2 3
  • ANHD 3

External Ids for ITPR2 Gene

Previous GeneCards Identifiers for ITPR2 Gene

  • GC12M026850
  • GC12M026502
  • GC12M026390
  • GC12M026381
  • GC12M026377
  • GC12M026258

Summaries for ITPR2 Gene

Entrez Gene Summary for ITPR2 Gene

  • 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]

GeneCards Summary for ITPR2 Gene

ITPR2 (Inositol 1,4,5-Trisphosphate Receptor Type 2) is a Protein Coding gene. Diseases associated with ITPR2 include Anhidrosis, Isolated, With Normal Sweat Glands and Anhidrosis. Among its related pathways are Signaling by GPCR and Oxytocin signaling pathway. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is ITPR1.

UniProtKB/Swiss-Prot Summary for ITPR2 Gene

  • Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).

Tocris Summary for ITPR2 Gene

  • Inositol 1,4,5-trisphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores.

Gene Wiki entry for ITPR2 Gene

Additional gene information for ITPR2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPR2 Gene

Genomics for ITPR2 Gene

GeneHancer (GH) Regulatory Elements for ITPR2 Gene

Promoters and enhancers for ITPR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J026830 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 530.2 +0.5 498 5 ZNF217 CTCF TCF12 SIN3A POLR2G SP1 RBAK GTF2E2 ZFX ZIC2 ITPR2 ENSG00000247903 MANSC4 lnc-INTS13-3
GH12J026846 Enhancer 1.3 Ensembl ENCODE dbSUPER 29.9 -12.8 -12802 2.4 CTCF FOS PHB2 ZBTB11 AFF1 TARDBP HES1 CTBP1 EP300 MYC HSALNG0089986 ITPR2
GH12J026767 Enhancer 1.1 Ensembl ENCODE 19.2 +64.0 63951 4.4 EP300 FOXK2 ZNF217 TCF12 POLR2G NCOR1 CTCF ZIC2 KDM6A TCF7 ITPR2 piR-50357-034 lnc-FGFR1OP2-5
GH12J026866 Enhancer 1 Ensembl ENCODE dbSUPER 20.9 -33.7 -33703 2.2 TRIM22 BCL11A CBFB ZNF384 NBN SPI1 BATF IRF4 IKZF1 NR2F1 ITPR2 TM7SF3 MED21 piR-48759-055 HSALNG0089986
GH12J026797 Enhancer 0.8 Ensembl ENCODE 20.3 +34.1 34097 3 TCF12 ZNF384 ARNT PBX2 RBM22 IKZF1 ZNF664 MITF ZNF2 BHLHE40 ENSG00000256640 LOC101929091 lnc-FGFR1OP2-4 ITPR2 piR-56759-109 LOC105369706
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITPR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ITPR2

Top Transcription factor binding sites by QIAGEN in the ITPR2 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • FOXO4
  • LUN-1
  • SRY

Genomic Locations for ITPR2 Gene

Genomic Locations for ITPR2 Gene
chr12:26,335,352-26,833,198
(GRCh38/hg38)
Size:
497,847 bases
Orientation:
Minus strand
chr12:26,488,285-26,986,131
(GRCh37/hg19)
Size:
497,847 bases
Orientation:
Minus strand

Genomic View for ITPR2 Gene

Genes around ITPR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ITPR2 Gene

Proteins for ITPR2 Gene

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  • Protein details for ITPR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14571-ITPR2_HUMAN
    Recommended name:
    Inositol 1,4,5-trisphosphate receptor type 2
    Protein Accession:
    Q14571
    Secondary Accessions:
    • O94773

    Protein attributes for ITPR2 Gene

    Size:
    2701 amino acids
    Molecular mass:
    308064 Da
    Quaternary structure:
    • Homotetramer (By similarity). Interacts with CABP1 (PubMed:12032348). Interacts with BOK; regulates ITPR2 expression (By similarity).
    Miscellaneous:
    • Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor.

    Alternative splice isoforms for ITPR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITPR2 Gene

Protein Expression for ITPR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITPR2 Gene

  • Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release.
  • Ubiquitination at Lys909 and Lys1589
  • Modification sites at PhosphoSitePlus

Other Protein References for ITPR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITPR2 Gene

Domains & Families for ITPR2 Gene

Gene Families for ITPR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ITPR2 Gene

Blocks:
  • Inositol 1,4,5-trisphosphate-binding protein receptor signature
  • Intracellular calcium-release channel
  • MIR domain
  • RyR and IP3R Homology associated
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ITPR2 Gene

GenScript: Design optimal peptide antigens:
  • Type 2 inositol 1,4,5-trisphosphate receptor (ITPR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14571

UniProtKB/Swiss-Prot:

ITPR2_HUMAN :
  • The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
  • Belongs to the InsP3 receptor family.
Domain:
  • The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
Family:
  • Belongs to the InsP3 receptor family.
genes like me logo Genes that share domains with ITPR2: view

Function for ITPR2 Gene

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Molecular function for ITPR2 Gene

UniProtKB/Swiss-Prot Function:
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity).
GENATLAS Biochemistry:
inositol 1,4,5-triphosphate receptor,type 2,coexpressed with RYR3 in neurons and smooth muscle cells forming heterotetrameric channel with ITPR1 and ITPR3,involved in mobilization from the endoplastic reticulum,highly sensitive to IP3,required for long lasting,regular Ca++ oscillations,transcriptionally regulated during myelopoiesis target of EVI-1 and EVI1-VP16 fusion gene

Phenotypes From GWAS Catalog for ITPR2 Gene

Gene Ontology (GO) - Molecular Function for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS,ISS --
GO:0005262 calcium channel activity IEA --
GO:0005509 calcium ion binding IBA 21873635
GO:0015085 calcium ion transmembrane transporter activity TAS 8081734
genes like me logo Genes that share ontologies with ITPR2: view
genes like me logo Genes that share phenotypes with ITPR2: view

Human Phenotype Ontology for ITPR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITPR2 Gene

MGI Knock Outs for ITPR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ITPR2

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ITPR2 Gene

Localization for ITPR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPR2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITPR2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA --
genes like me logo Genes that share ontologies with ITPR2: view

Pathways & Interactions for ITPR2 Gene

PathCards logo

SuperPathways for ITPR2 Gene

SuperPathway Contained pathways
1 RET signaling
VEGFR2 mediated cell proliferation
.95
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
Signaling by EGFR
.90
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
G alpha (q) signalling events
.43
2 Development Angiotensin activation of ERK
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Development EDNRB signaling
.54
Development EPO-induced MAPK pathway
.48
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
3 DAG and IP3 signaling
DAG and IP3 signaling
.94
EGFR interacts with phospholipase C-gamma
.94
PLC-gamma1 signalling
.94
PLC beta mediated events
.65
G-protein mediated events
.64
Opioid Signalling
.56
Signal transduction Calcium signaling
.35
4 fMLP Pathway
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
Signal transduction Activation of PKC via G-Protein coupled receptor
.42
CXCR4 Pathway
.39
Alpha-Adrenergic Signaling
.38
Huntington's Disease Pathway
.30
5 Development Endothelin-1/EDNRA signaling
Development Endothelin-1/EDNRA signaling
.41
Development Endothelin-1/EDNRA transactivation of EGFR
.41
Cytoskeleton remodeling FAK signaling
.41
GnRH signaling pathway
.38
Inflammatory mediator regulation of TRP channels
.37
genes like me logo Genes that share pathways with ITPR2: view

Pathways by source for ITPR2 Gene

41 GeneGo (Thomson Reuters) pathways for ITPR2 Gene
  • Cell adhesion Integrin inside-out signaling
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
  • Cytoskeleton remodeling FAK signaling
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Development A1 receptor signaling
47 Qiagen pathways for ITPR2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Alpha-Adrenergic Signaling
  • BDNF Pathway

Gene Ontology (GO) - Biological Process for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 19120137
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007165 signal transduction TAS 8081734
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with ITPR2: view

No data available for SIGNOR curated interactions for ITPR2 Gene

Drugs & Compounds for ITPR2 Gene

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(10) Drugs for ITPR2 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist, cofactor 1028
Calcium Approved Nutra 7884
Caffeine Approved Pharma Antagonist, Activator, Target, inhibitor 560
Inositol 2,4,5-trisphosphate Experimental Pharma 0
adenophostin A Pharma Activator 0

(3) Additional Compounds for ITPR2 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ins(2,4,5)P<sub>3</sub>
Activator
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
 88269-39-0

(1) Tocris Compounds for ITPR2 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8
genes like me logo Genes that share compounds with ITPR2: view

Transcripts for ITPR2 Gene

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  1. CRISPR
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mRNA/cDNA for ITPR2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITPR2 Gene

No ASD Table

Relevant External Links for ITPR2 Gene

GeneLoc Exon Structure for
ITPR2

Expression for ITPR2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ITPR2 Gene

mRNA expression in normal human tissues for ITPR2 Gene
mRNA expression by GTEx for ITPR2 GenemRNA expression by BioGPS for ITPR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPR2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.2) and Rectum (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITPR2 Gene



Protein tissue co-expression partners for ITPR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ITPR2

SOURCE GeneReport for Unigene cluster for ITPR2 Gene:

Hs.512235

mRNA Expression by UniProt/SwissProt for ITPR2 Gene:

Q14571-ITPR2_HUMAN
Tissue specificity: Isoform Short is found in skeletal muscle and heart.

Evidence on tissue expression from TISSUES for ITPR2 Gene

  • Liver(4.6)
  • Heart(4.4)
  • Nervous system(3.1)
  • Blood(2.2)
  • Eye(2.1)
  • Pancreas(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPR2 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Regions:
General:
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ITPR2: view

No data available for mRNA differential expression in normal tissues for ITPR2 Gene

Orthologs for ITPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ITPR2 31 30
  • 99.1 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ITPR2 31
  • 95 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 94 (a)
 OneToMany
-- 31
  • 88 (a)
 OneToMany
-- 31
  • 84 (a)
 OneToMany
-- 31
  • 81 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ITPR2 31 30
  • 93.34 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ITPR2 31 30
  • 91.81 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Itpr2 17 31 30
  • 85.09 (n)
rat
(Rattus norvegicus)
 Mammalia Itpr2 30
  • 84.77 (n)
chicken
(Gallus gallus)
 Aves ITPR2 31 30
  • 83.05 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ITPR2 31
  • 92 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia itpr2 30
  • 75.24 (n)
zebrafish
(Danio rerio)
 Actinopterygii itpr2 31
  • 75 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Itp-r83A 31 32
  • 54 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea itr-1 31 32
  • 37 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 54 (a)
 OneToMany
Cin.2722 30
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2722 30
Species where no ortholog for ITPR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITPR2 Gene

ENSEMBL:
Gene Tree for ITPR2 (if available)
TreeFam:
Gene Tree for ITPR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITPR2: view image

Paralogs for ITPR2 Gene

Paralogs for ITPR2 Gene

(2) SIMAP similar genes for ITPR2 Gene using alignment to 4 proteins:

  • ITPR2_HUMAN
  • F5GYT5_HUMAN
  • H7C2X9_HUMAN
  • I1VE21_HUMAN
genes like me logo Genes that share paralogs with ITPR2: view

Variants for ITPR2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ITPR2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs61757114 Uncertain Significance: not provided 26,602,684(-) A/C MISSENSE_VARIANT
rs786204832 Pathogenic: Anhidrosis, isolated, with normal sweat glands. Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190] 26,400,166(-) C/Tp.Gly2498Ser MISSENSE_VARIANT
rs2230373 - p.Glu1143Asp
rs2230382 - p.Ala1898Val
rs2230384 - p.Ala453Val

Additional dbSNP identifiers (rs#s) for ITPR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ITPR2 Gene

Variant ID Type Subtype PubMed ID
dgv785n106 CNV deletion 24896259
esv1000864 CNV deletion 20482838
esv1263874 CNV deletion 17803354
esv1562553 CNV insertion 17803354
esv1705858 CNV insertion 17803354
esv2257606 CNV deletion 18987734
esv2519123 CNV deletion 19546169
esv2579102 CNV deletion 19546169
esv2633425 CNV insertion 19546169
esv2653675 CNV deletion 19546169
esv2745657 CNV deletion 23290073
esv2745658 CNV deletion 23290073
esv2745659 CNV deletion 23290073
esv2745660 CNV deletion 23290073
esv2745661 CNV deletion 23290073
esv3305040 CNV mobile element insertion 20981092
esv3309432 CNV mobile element insertion 20981092
esv3444679 CNV insertion 20981092
esv3548913 CNV deletion 23714750
esv3548916 CNV deletion 23714750
esv4216 CNV loss 18987735
esv6587 CNV loss 19470904
esv993210 CNV deletion 20482838
nsv1071021 CNV deletion 25765185
nsv1113469 CNV deletion 24896259
nsv1115428 CNV duplication 24896259
nsv524588 CNV loss 19592680
nsv557803 CNV gain 21841781
nsv649 CNV insertion 18451855
nsv832355 CNV gain 17160897
nsv951343 CNV duplication 24416366
nsv958646 CNV deletion 24416366
nsv975646 CNV duplication 23825009
nsv983295 CNV duplication 23825009

Variation tolerance for ITPR2 Gene

Residual Variation Intolerance Score: 0.663% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.26; 70.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITPR2 Gene

Human Gene Mutation Database (HGMD)
ITPR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPR2 Gene

Disorders for ITPR2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITPR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
anhidrosis, isolated, with normal sweat glands
  • anhd
anhidrosis
  • absence of sweating
hemochromatosis, type 1
  • hfe1
- elite association - COSMIC cancer census association via MalaCards
Search ITPR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITPR2_HUMAN
  • Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190]: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. {ECO:0000269 PubMed:25329695}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ITPR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITPR2: view

No data available for Genatlas for ITPR2 Gene

Publications for ITPR2 Gene

  1. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. (PMID: 17827064) van Es MA … van den Berg LH (The Lancet. Neurology 2007) 3 23 41 54
  2. Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PMID: 8081734) Yamamoto-Hino M … Hasegawa M (Receptors & channels 1994) 2 3 4 54
  3. Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. (PMID: 25329695) Klar J … Dahl N (The Journal of clinical investigation 2014) 3 4 54
  4. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PMID: 19464757) Fernández-Santiago R … Gasser T (Neurobiology of aging 2011) 3 41 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

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