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Aliases for ITPR2 Gene

Aliases for ITPR2 Gene

  • Inositol 1,4,5-Trisphosphate Receptor Type 2 2 3 5
  • Cilia And Flagella Associated Protein 48 2 3
  • Type 2 InsP3 Receptor 3 4
  • INSP3R2 3 4
  • IP3R 2 3 4
  • Inositol 1,4,5-Trisphosphate Receptor, Type 2 2
  • Inositol 1,4,5-Triphosphate Receptor, Type 2 2
  • Type 2 Inositol 1,4,5-Trisphosphate Receptor 4
  • IP3 Receptor Isoform 2 4
  • IP3 Receptor 3
  • 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 ICos-ICosL Pathway in T-Helper Cell and Interleukin-3, 5 and GM-CSF signaling. 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPR2 Gene

Genomics for ITPR2 Gene

Regulatory Elements for ITPR2 Gene

Enhancers for ITPR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ITPR2 on UCSC Golden Path with GeneCards custom track

Promoters for ITPR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITPR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITPR2 Gene

Chromosome:
12
Start:
26,335,352 bp from pter
End:
26,833,198 bp from pter
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 StructureGene Density

RefSeq DNA sequence for ITPR2 Gene

Proteins for ITPR2 Gene

  • 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.
    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

Post-translational modifications for ITPR2 Gene

  • Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release.
  • Ubiquitination at Lys 909 and Lys 1589
  • 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

Suggested Antigen Peptide Sequences for ITPR2 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 5 MIR domains.
Family:
  • 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

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
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).

Gene Ontology (GO) - Molecular Function for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA --
GO:0015085 calcium ion transmembrane transporter activity TAS 8081734
GO:0015278 calcium-release channel activity IEA --
GO:0035091 phosphatidylinositol binding IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for ITPR2 Gene COMPARTMENTS Subcellular localization image for ITPR2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ITPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 10828023
GO:0005938 cell cortex IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ITPR2: view

Pathways & Interactions for ITPR2 Gene

SuperPathways for ITPR2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 DAG and IP3 signaling
3 Development Angiotensin activation of ERK
4 Development Endothelin-1/EDNRA signaling
5 fMLP Pathway
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:0006810 transport TAS 8081734
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 779,250
Caffeine Approved Nutra Antagonist, Target A1 and A2B antagonist. CNS stimulant 358
Cafcit Injection Approved September 1999 Pharma 0
adenophostin A Pharma Activator 0
Ca<sup>2+</sup> 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
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
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

Unigene Clusters for ITPR2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
ITPR2

Expression for ITPR2 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for ITPR2 Gene



Protein tissue co-expression partners for ITPR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITPR2 Gene:

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.
genes like me logo Genes that share expression patterns with ITPR2: view

Primer Products

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
cow
(Bos Taurus)
Mammalia ITPR2 34
  • 91.81 (n)
  • 97.26 (a)
ITPR2 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPR2 34
  • 93.34 (n)
  • 97.89 (a)
ITPR2 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpr2 34
  • 85.09 (n)
  • 95.82 (a)
Itpr2 16
Itpr2 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITPR2 34
  • 99.1 (n)
  • 99.25 (a)
ITPR2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpr2 34
  • 84.77 (n)
  • 95.34 (a)
oppossum
(Monodelphis domestica)
Mammalia ITPR2 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves ITPR2 34
  • 83.05 (n)
  • 92.99 (a)
ITPR2 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPR2 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpr2 34
  • 75.24 (n)
  • 88.5 (a)
zebrafish
(Danio rerio)
Actinopterygii itpr2 35
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 36
  • 54 (a)
Itp-r83A 35
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea itr-1 36
  • 36 (a)
itr-1 35
  • 37 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2722 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
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)

Paralogs for ITPR2 Gene

Paralogs for ITPR2 Gene

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

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 Sequence Context AA Info Type
VAR_055963 -
VAR_055964 -
rs2230382 - 26,486,222(-) AGAAG(C/T)GGGAA downstream-variant-500B, reference, missense
rs786204832 Anhidrosis, isolated, with normal sweat glands (ANHD) 26,400,166(-) ATGGC(A/G)GTGGT reference, missense
rs7300892 -- 26,528,997(+) acttc(A/G)ctcca 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)

Relevant External Links for ITPR2 Gene

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

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: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
anhidrosis, isolated, with normal sweat glands
  • anhidrosis, familial generalized, with normal sweat glands
anhidrosis
  • absence of sweating
- 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.

Relevant External Links for ITPR2

Genetic Association Database (GAD)
ITPR2
Human Genome Epidemiology (HuGE) Navigator
ITPR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPR2
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 M.A. … van den Berg L.H. (Lancet Neurol 2007) 3 22 46 65
  2. Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PMID: 8081734) Yamamoto-Hino M. … Mikoshiba K. (Recept. Channels 1994) 2 3 4 65
  3. Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. (PMID: 25329695) Klar J. … Dahl N. (J. Clin. Invest. 2014) 3 4 65
  4. No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. (PMID: 19464757) FernA!ndez-Santiago R. … Gasser T. (Neurobiol. Aging 2011) 3 46 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for ITPR2 Gene

Sources for ITPR2 Gene

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