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Aliases for ITPR3 Gene

Aliases for ITPR3 Gene

  • Inositol 1,4,5-Trisphosphate Receptor Type 3 2 3 5
  • Inositol 1,4,5-Triphosphate Receptor, Type 3 2 3
  • Type 3 InsP3 Receptor 3 4
  • InsP3R3 3 4
  • Inositol 1,4,5-Trisphosphate Receptor, Type 3 2
  • Type 3 Inositol 1,4,5-Trisphosphate Receptor 4
  • IP3 Receptor Isoform 3 4
  • IP3 Receptor 3
  • IP3R 3 4
  • IP3R3 3
  • IP3R 3

External Ids for ITPR3 Gene

Previous GeneCards Identifiers for ITPR3 Gene

  • GC06P033591
  • GC06P033636
  • GC06P033697
  • GC06P033330

Summaries for ITPR3 Gene

Entrez Gene Summary for ITPR3 Gene

  • This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

GeneCards Summary for ITPR3 Gene

ITPR3 (Inositol 1,4,5-Trisphosphate Receptor Type 3) is a Protein Coding gene. Diseases associated with ITPR3 include Diabetes Mellitus, Insulin-Dependent and Peritoneum Cancer. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is ITPR2.

UniProtKB/Swiss-Prot for ITPR3 Gene

  • Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.

Tocris Summary for ITPR3 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 ITPR3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPR3 Gene

Genomics for ITPR3 Gene

Regulatory Elements for ITPR3 Gene

Enhancers for ITPR3 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
GH06G033270 1.5 ENCODE dbSUPER 27.1 -345.2 -345237 8.4 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC RPS18 DAXX WDR46 BRD2 VPS52 RGL2 LEMD2 RXRB ITPR3 RING1
GH06G034223 2 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +604.1 604073 2.7 HDGF ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 ZBTB7B ZNF766 ZNF207 RPS10 ITPR3 LEMD2 DAXX RGL2 WDR46 B3GALT4 VPS52 HCG25 NUDT3
GH06G033837 1.7 Ensembl ENCODE dbSUPER 13.7 +219.5 219536 4.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B LEMD2 RING1 RXRB VPS52 WDR46 SYNGAP1 BRD2 IP6K3 DAXX ITPR3
GH06G033618 1.7 FANTOM5 ENCODE dbSUPER 13.6 +1.7 1720 6.5 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 RING1 ITPR3 IP6K3 BAK1 HCG25 HLA-DOA TAPBP CUTA PIR39393
GH06G034233 1.7 Ensembl ENCODE dbSUPER 13.6 +621.9 621892 17.1 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC WDR46 RPS10 DAXX LEMD2 VPS52 RGL2 HCG25 ITPR3 SYNGAP1 ZBTB22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITPR3 on UCSC Golden Path with GeneCards custom track

Promoters for ITPR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195820 1035 2401 HDGF CREB3L1 MLX SIN3A ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 FOS

Genomic Location for ITPR3 Gene

Chromosome:
6
Start:
33,620,365 bp from pter
End:
33,696,574 bp from pter
Size:
76,210 bases
Orientation:
Plus strand

Genomic View for ITPR3 Gene

Genes around ITPR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPR3 Gene

Proteins for ITPR3 Gene

  • Protein details for ITPR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14573-ITPR3_HUMAN
    Recommended name:
    Inositol 1,4,5-trisphosphate receptor type 3
    Protein Accession:
    Q14573
    Secondary Accessions:
    • Q14649
    • Q5TAQ2

    Protein attributes for ITPR3 Gene

    Size:
    2671 amino acids
    Molecular mass:
    304106 Da
    Quaternary structure:
    • Homotetramer. Interacts with TRPC1, TRPC3 and TRPC4. Interacts with TRPV4 (PubMed:18826956). Interacts with SIGMAR1 (By similarity). Interacts with PML and AKT1 (By similarity). Interacts with LRMP (via coiled-coil domain) (By similarity). Interacts with CABP1 (PubMed:12032348). Interacts with TMBIM4/LFG4 (PubMed:19553469). Interacts with CEMIP (PubMed:23936024). Interacts with TESPA1 (By similarity). Interacts with TMEM203 (PubMed:25996873). Interacts with BOK; regulates ITPR3 expression (By similarity).

neXtProt entry for ITPR3 Gene

Post-translational modifications for ITPR3 Gene

  • Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity).
  • Ubiquitination at posLast=15891589
  • Glycosylation at isoforms=2405
  • Modification sites at PhosphoSitePlus

Other Protein References for ITPR3 Gene

No data available for DME Specific Peptides for ITPR3 Gene

Domains & Families for ITPR3 Gene

Suggested Antigen Peptide Sequences for ITPR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14573

UniProtKB/Swiss-Prot:

ITPR3_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 ITPR3: view

Function for ITPR3 Gene

Molecular function for ITPR3 Gene

GENATLAS Biochemistry:
inositol 1,4,5-triphosphate receptor,type 3,coexpressed with RYR3 in neurons and smooth muscle cells forming heterotetrameric channel with ITPR1 and ITPR2,involved in Ca++ mobilization from the endoplastic reticulum,poorly sensitive to IP3 and CA++,mediating monophasic Ca++ transients
UniProtKB/Swiss-Prot Function:
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.

Gene Ontology (GO) - Molecular Function for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000822 inositol hexakisphosphate binding ISS --
GO:0005216 ion channel activity IEA --
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS,IDA --
GO:0005262 calcium channel activity IEA --
GO:0005509 calcium ion binding IBA --
genes like me logo Genes that share ontologies with ITPR3: view
genes like me logo Genes that share phenotypes with ITPR3: view

Animal Models for ITPR3 Gene

MGI Knock Outs for ITPR3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ITPR3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITPR3 Gene

Localization for ITPR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPR3 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 ITPR3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 4
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane ISS --
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with ITPR3: view

Pathways & Interactions for ITPR3 Gene

SuperPathways for ITPR3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Development Angiotensin activation of ERK
3 DAG and IP3 signaling
4 Development Endothelin-1/EDNRA signaling
5 fMLP Pathway
genes like me logo Genes that share pathways with ITPR3: view

Gene Ontology (GO) - Biological Process for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007186 G-protein coupled receptor signaling pathway ISS --
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
genes like me logo Genes that share ontologies with ITPR3: view

No data available for SIGNOR curated interactions for ITPR3 Gene

Drugs & Compounds for ITPR3 Gene

(11) Drugs for ITPR3 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 848,265
Caffeine Approved Nutra Antagonist, Target A1 and A2B antagonist. CNS stimulant 396
Cafcit Injection Approved September 1999 Pharma 0
Ca<sup>2+</sup> Pharma Activator 0
DECAVANADATE Pharma Antagonist 0

(4) Additional Compounds for ITPR3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 ITPR3 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 ITPR3: view

Transcripts for ITPR3 Gene

mRNA/cDNA for ITPR3 Gene

Unigene Clusters for ITPR3 Gene

Inositol 1,4,5-trisphosphate receptor, type 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITPR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ·
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 42c ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b · 49c ^ 50 ^ 51 ^ 52 ^ 53a · 53b · 53c ^ 54a · 54b ^ 55a · 55b · 55c ^ 56 ^ 57a · 57b ^ 58 ^ 59a ·
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for ITPR3 Gene

GeneLoc Exon Structure for
ITPR3
ECgene alternative splicing isoforms for
ITPR3

Expression for ITPR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITPR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPR3 Gene

This gene is overexpressed in Nasal epithelium (47.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITPR3 Gene



Protein tissue co-expression partners for ITPR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITPR3 Gene:

ITPR3

SOURCE GeneReport for Unigene cluster for ITPR3 Gene:

Hs.65758

mRNA Expression by UniProt/SwissProt for ITPR3 Gene:

Q14573-ITPR3_HUMAN
Tissue specificity: Expressed in intestinal crypt and villus epithelial cells.

Evidence on tissue expression from TISSUES for ITPR3 Gene

  • Liver(4.5)
  • Intestine(3.6)
  • Lung(3.2)
  • Nervous system(3.1)
  • Blood(2.4)
  • Pancreas(2.4)
  • Muscle(2.2)
  • Heart(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with ITPR3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPR3 Gene

Orthologs for ITPR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITPR3 34 35
  • 98.45 (n)
cow
(Bos Taurus)
Mammalia ITPR3 34 35
  • 92.77 (n)
dog
(Canis familiaris)
Mammalia ITPR3 34 35
  • 92.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ITPR3 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpr3 34
  • 89.7 (n)
mouse
(Mus musculus)
Mammalia Itpr3 34 16 35
  • 89.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITPR3 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITPR3 34 35
  • 83.53 (n)
lizard
(Anolis carolinensis)
Reptilia ITPR3 35
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii itpr3 35
  • 73 (a)
OneToOne
Dr.23369 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.660 34
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 36 35
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea itr-1 36 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for ITPR3 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ITPR3 Gene

ENSEMBL:
Gene Tree for ITPR3 (if available)
TreeFam:
Gene Tree for ITPR3 (if available)

Paralogs for ITPR3 Gene

Paralogs for ITPR3 Gene

(2) SIMAP similar genes for ITPR3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ITPR3: view

Variants for ITPR3 Gene

Sequence variations from dbSNP and Humsavar for ITPR3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000024498 -- 33,689,519(+) CCCCT(C/T)CTCTC intron-variant
rs1000024971 -- 33,689,842(+) TACCT(C/T)ACTGT intron-variant
rs1000072251 -- 33,648,972(+) TCGGC(C/T)CACTG intron-variant
rs1000253697 -- 33,683,757(+) CCCAC(A/G)TGGCA intron-variant
rs1000269494 -- 33,685,042(+) GGTGT(C/G)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITPR3 Gene

Variant ID Type Subtype PubMed ID
dgv85n68 CNV loss 17160897
esv3435549 CNV duplication 20981092
esv3571003 CNV loss 25503493
esv3608630 CNV gain 21293372
esv8764 CNV gain 19470904
nsv470811 CNV loss 18288195
nsv522906 CNV loss 19592680
nsv5250 CNV deletion 18451855
nsv602838 CNV loss 21841781
nsv950158 CNV deletion 24416366

Variation tolerance for ITPR3 Gene

Residual Variation Intolerance Score: 0.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITPR3 Gene

Human Gene Mutation Database (HGMD)
ITPR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPR3 Gene

Disorders for ITPR3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITPR3 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent
  • diabetes, type 1
peritoneum cancer
  • cancer of peritoneum
coronary artery aneurysm
  • coronary aneurysm
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search ITPR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITPR3

Genetic Association Database (GAD)
ITPR3
Human Genome Epidemiology (HuGE) Navigator
ITPR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPR3
genes like me logo Genes that share disorders with ITPR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITPR3 Gene

Publications for ITPR3 Gene

  1. 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 22 64
  2. Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. (PMID: 8288584) Maranto A.R. (J. Biol. Chem. 1994) 2 3 4 22 64
  3. A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. (PMID: 18219441) Oishi T. … Matsuda K. (J. Hum. Genet. 2008) 3 22 46 64
  4. IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site. (PMID: 18826956) Garcia-Elias A. … Valverde M.A. (J. Biol. Chem. 2008) 3 4 22 64
  5. Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. (PMID: 16960798) Roach J.C. … . (Am. J. Hum. Genet. 2006) 3 22 46 64

Products for ITPR3 Gene

Sources for ITPR3 Gene