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Aliases for ITPR2 Gene

Aliases for ITPR2 Gene

  • Inositol 1,4,5-Trisphosphate Receptor Type 2 2 3 3 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 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers and G-protein signaling G-Protein alpha-i signaling cascades. Gene Ontology (GO) annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is ITPR1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
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 2.3 EPDnew Ensembl ENCODE dbSUPER 680.2 +0.2 242 4.5 HDGF FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 ITPR2 ENSG00000247903 MANSC4 ENSG00000256640
GH12J026845 Enhancer 1.3 Ensembl ENCODE dbSUPER 29.9 -13.1 -13131 1.3 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 FOS ATF7 NCOA1 ITPR2 GC12M026907
GH12J026866 Enhancer 0.9 ENCODE dbSUPER 20.9 -34.0 -33971 1 PKNOX1 BATF IRF4 EED NFATC1 ATF7 IKZF2 CREM RUNX3 SCRT1 ITPR2 TM7SF3 MED21 GC12M026907
GH12J026797 Enhancer 0.8 Ensembl ENCODE 20.2 +35.1 35069 1 PKNOX1 MZF1 DPF2 ZNF2 ZNF781 IKZF1 EED ATF7 IKZF2 CREM ITPR2 LOC101929091 LOC105369706
GH12J026935 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.1 -106.1 -106097 8.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B INTS13 FGFR1OP2 ENSG00000247903 TM7SF3 MED21 ITPR2 PIR61598
- 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

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

Genomic Locations for ITPR2 Gene

Genomic Locations for ITPR2 Gene
497,847 bases
Minus strand
497,847 bases
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 StructureGene Density

RefSeq DNA sequence for ITPR2 Gene

Proteins for ITPR2 Gene

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

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

    Protein attributes for ITPR2 Gene

    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).
    • 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


neXtProt entry for ITPR2 Gene

Post-translational modifications for ITPR2 Gene

  • Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release.
  • Ubiquitination at Lys1589 and isoforms=909
  • Modification sites at PhosphoSitePlus

Other Protein References for ITPR2 Gene

No data available for DME Specific Peptides for ITPR2 Gene

Domains & Families for ITPR2 Gene

Gene Families for ITPR2 Gene

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

Suggested Antigen Peptide Sequences for ITPR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
genes like me logo Genes that share domains with ITPR2: view

Function for ITPR2 Gene

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:0005488 binding IEA --
GO:0005509 calcium ion binding IBA --
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

Clone Products

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

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
nucleus 5
endoplasmic reticulum 5
mitochondrion 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 10828023
genes like me logo Genes that share ontologies with ITPR2: view

Pathways & Interactions for ITPR2 Gene

SuperPathways for ITPR2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Development Angiotensin activation of ERK
3 DAG and IP3 signaling
4 fMLP Pathway
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ITPR2: view

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist, cofactor 905
calcium Approved Nutra 0
Caffeine Approved Nutra Antagonist, Activator, Target, inhibitor 434
Cafcit Injection Approved September 1999 Pharma 0
Inositol 2,4,5-trisphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

(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

mRNA/cDNA for ITPR2 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ITPR2 Gene

Inositol 1,4,5-trisphosphate receptor, type 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for

Expression for ITPR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of ITPR2 Gene:


SOURCE GeneReport for Unigene cluster for ITPR2 Gene:


mRNA Expression by UniProt/SwissProt for ITPR2 Gene:

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
  • integumentary
  • nervous
  • 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
(Pan troglodytes)
Mammalia ITPR2 34 33
  • 99.1 (n)
(Monodelphis domestica)
Mammalia ITPR2 34
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
-- 34
  • 88 (a)
-- 34
  • 84 (a)
-- 34
  • 81 (a)
(Canis familiaris)
Mammalia ITPR2 34 33
  • 93.34 (n)
(Bos Taurus)
Mammalia ITPR2 34 33
  • 91.81 (n)
(Mus musculus)
Mammalia Itpr2 16 34 33
  • 85.09 (n)
(Rattus norvegicus)
Mammalia Itpr2 33
  • 84.77 (n)
(Gallus gallus)
Aves ITPR2 34 33
  • 83.05 (n)
(Anolis carolinensis)
Reptilia ITPR2 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia itpr2 33
  • 75.24 (n)
(Danio rerio)
Actinopterygii itpr2 34
  • 75 (a)
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 34 35
  • 54 (a)
(Caenorhabditis elegans)
Secernentea itr-1 34 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
Cin.2722 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2722 33
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

Gene Tree for ITPR2 (if available)
Gene Tree for ITPR2 (if available)
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:

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

Variants for ITPR2 Gene

Sequence variations from dbSNP and Humsavar for ITPR2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs786204832 pathogenic, Anhidrosis, isolated, with normal sweat glands, Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190] 26,400,166(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs61757114 uncertain-significance, not provided 26,602,684(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000002964 -- 26,513,384(-) T/C intron_variant
rs1000005391 -- 26,508,856(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000014796 -- 26,711,503(-) C/A intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

(2) MalaCards diseases for ITPR2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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


  • 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
Human Genome Epidemiology Navigator
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 22 44 58
  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 58
  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 58
  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 44 58
  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 44 58

Products for ITPR2 Gene

Sources for ITPR2 Gene

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