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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITPR3 Gene

protein-coding GIFtS: 66
GCID: GC06P033588

inositol 1,4,5-trisphosphate receptor, type 3

(Previous names: inositol 1,4,5-triphosphate receptor, type 3 )

Explore 20 diseases affiliated with
ITPR3 via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 3¹ ²		InsP3R3³
IP3R3¹ ²		IP3 Receptor²
Inositol 1,4,5-Triphosphate Receptor, Type 3¹ ²		InsP3R3³
Type 3 InsP3 Receptor² ³		IP3 Receptor Isoform 3³
IP3R²		IP3R 3³
Inositol 1,4,5-Trisphosphate Receptor Type 3²		Type 3 Inositol 1,4,5-Trisphosphate Receptor³

External Ids:	HGNC: 6182¹	Entrez Gene: 3710²	Ensembl: ENSG00000096433⁷	OMIM: 147267⁵	UniProtKB: Q14573³

Export aliases for ITPR3 gene to outside databases

Previous GC identifers: GC06P033591 GC06P033636 GC06P033697 GC06P033330

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITPR3:

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)

UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573

Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular

calcium

summary for ITPR3:

Inositol 1,4,5-triphosphate (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. IP3 receptors play an important role in

intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2

and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and

FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Gene Wiki entry for ITPR3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITPR3 gene promoter:
GCNF SREBP-1c MyoD Tal-1beta SREBP-1b Gfi-1 E47 SREBP-1a GCNF-1 c-Myb
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITPR3 promoter sequence

Search SABiosciences Chromatin IP Primers for ITPR3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITPR3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21 Ensembl cytogenetic band: 6p21.31 HGNC cytogenetic band: 6p21.31

ITPR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPR3 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P033588: view genomic region (about GC identifiers)

Start:	33,588,522 bp from pter	End:	33,664,351 bp from pter
Size:	75,830 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573 (See protein sequence)

Recommended Name: Inositol 1,4,5-trisphosphate receptor type 3

Size: 2671 amino acids; 304106 Da

Subunit: Homotetramer. Interacts with SIGMAR1, PML, AKT1, TRPC1, TRPC3 and TRPC4 (By similarity). Interacts with CABP1.

Interacts with TMBIM4/LFG4

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Secondary accessions: Q14649 Q5TAQ2

Explore the universe of human proteins at neXtProt for ITPR3: NX_Q14573

Post-translational modifications:

Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14573

ITPR3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002215.2

ENSEMBL proteins:

ENSP00000363435

Reactome Protein details: Q14573
Human Recombinant Protein Products for ITPR3:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	GenScript Custom Purified and Recombinant Proteins Services for ITPR3
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ITPR3

Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005640	nuclear outer membrane	ISS	--
GO:0005654	nucleoplasm	IEA	--
GO:0005730	nucleolus	IEA	--
GO:0005737	cytoplasm	ISS	--

ITPR3 for ontologies About GeneDecksing

ITPR3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPR3
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	GenScript Custom Superior Antibodies Services for ITPR3
	Novus Biologicals ITPR3 Antibodies
	Abcam antibodies for ITPR3
	Uscn Antibodies for ITPR3
	Search ThermoFisher Antibodies for ITPR3

Assay Products for ITPR3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ITPR3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ITPR3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ITPR3 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR014821 Ins145_P3_rcpt

IPR000699 Ca-rel_channel

IPR013662 RIH_assoc-dom

IPR005821 Ion_trans_dom

IPR000493 InsP3_rcpt-bd

Graphical View of Domain Structure for InterPro Entry Q14573

ProtoNet protein and cluster: Q14573

4 Blocks protein families:

IPB000493 Inositol 1,4,5-trisphosphate-binding protein receptor signature

IPB000699 Intracellular calcium-release channel

IPB003608 MIR domain

IPB013662 RyR and IP3R Homology associated

UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573

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

Similarity: Belongs to the InsP3 receptor family

Similarity: Contains 5 MIR domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ITPR3_HUMAN, Q14573

Function: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular

calcium

Genatlas biochemistry entry for ITPR3:

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

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000822	inositol hexakisphosphate binding	ISS	--
GO:0005218	intracellular ligand-gated calcium channel activity	ISS	--
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	--
GO:0005515	protein binding	IPI	19052258
GO:0035091	phosphatidylinositol binding	IEA	--

ITPR3 for ontologies About GeneDecksing

Phenotypes:
10 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Itpr3):

behavior/neurological	digestive/alimentary	endocrine/exocrine gland	growth/size	homeostasis/metabolism
integument	mortality/aging	no phenotypic analysis	normal	reproductive system

ITPR3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Itpr3^tm1Kmik for ITPR3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ITPR3

miRNA Products:		OriGene 3'-UTR Clone: ITPR3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPR3
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPR3 (see all 14):
		hsa-miR-323-3p hsa-miR-142-3p hsa-miR-3910 hsa-miR-148b* hsa-miR-520f hsa-miR-628-3p hsa-miR-223 hsa-miR-3168

		SwitchGear 3'UTR luciferase reporter plasmid: ITPR3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPR3 (see all 7) OriGene shRNA RFP: ITPR3 OriGene siRNA: ITPR3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITPR3
		Sirion Biotech Custom design and validation of potent shRNA sequences against ITPR3

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ITPR3
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPR3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITPR3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ITPR3 (NM_002224)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPR3
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ITPR3
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		Sirion Biotech Customized stable knockdown cell line services for ITPR3 Sirion Biotech Customized inducible knockdown cell line services for ITPR3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/84 super-pathways (see all 84) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by FGFR

8/12 pathways (see all 12)
Signaling by FGFR	1.00	DAP12 signaling	0.83
Downstream signaling of activated FGFR	0.92	Signaling by EGFR in Cancer	0.83
Signaling by FGFR in disease	0.91	DAP12 interactions	0.76
Signaling by ERBB2	0.89	Signaling by PDGF	0.72

Development Angiotensin activation of ERK

8/9 pathways (see all 9)
Development Angiotensin activation of ERK	1.00	Development G-Proteins mediated regulation MARK-ERK signaling	0.66
Development_Angiotensin activation of ERK	0.98	Development_EDNRB signaling	0.54
Development_ACM2 and ACM4 activation of ERK	0.74	Development EDNRB signaling	0.54
Development ACM2 and ACM4 activation of ERK	0.74	Cholinergic synapse	0.30

Development_A3 receptor signaling

Development_A3 receptor signaling	1.00	Development A1 receptor signaling	0.65
Development A3 receptor signaling	1.00	G-protein signaling_G-Protein alpha-q signaling cascades	0.53
Development_A1 receptor signaling	0.65	G-protein signaling G-Protein alpha-q signaling cascades	0.53

Development_Endothelin-1/EDNRA transactivation of EGFR

Development_Endothelin-1/EDNRA transactivation of EGFR	1.00	Development_Endothelin-1/EDNRA signaling	0.41
Development Endothelin-1/EDNRA transactivation of EGFR	1.00	Cytoskeleton remodeling_FAK signaling	0.41
Development Endothelin-1/EDNRA signaling	0.41	Cytoskeleton remodeling FAK signaling	0.41

DAG and IP3 signaling

DAG and IP3 signaling	1.00	PLCG1 events in ERBB2 signaling	0.91
PLC-gamma1 signalling	0.94	Phospholipase C-mediated cascade	0.57
EGFR interacts with phospholipase C-gamma	0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

5/40 EMD Millipore Pathways for ITPR3 (see all 40)

	Translation Translation regulation by Alpha-1 adrenergic receptors
	Development Activation of ERK by Alpha-1 adrenergic receptors
	Immune response CD16 signaling in NK cells
	Cytoskeleton remodeling FAK signaling
	Signal transduction IP3 signaling

5/47 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITPR3 (see all 47)

	Fc-GammaR Pathway
	Intracellular Calcium Signaling
	Visual Cycle in Retinal Rods
	PI3K Signaling in B-Lymphocyte
	PACAP Signaling

5/41 GeneGo (Thomson Reuters) Pathways for ITPR3 (see all 41)

	Development FGF-family signaling
	Development Endothelin-1/EDNRA signaling
	Immune response CD28 signaling
	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
	Development VEGF-family signaling

3 BioSystems Pathways for ITPR3

	Calcium Regulation in the Cardiac Cell
	Myometrial Relaxation and Contraction Pathways
	Alzheimers Disease

5/44 Reactome Pathways for ITPR3 (see all 44)

	Platelet homeostasis
	Signaling by EGFR in Cancer
	Elevation of cytosolic Ca2+ levels
	Downstream signal transduction
	Signal Transduction

5/15 Kegg Pathways (Kegg details for ITPR3) (see all 15):

	Calcium signaling pathway
	Phosphatidylinositol signaling system
	Oocyte meiosis
	Vascular smooth muscle contraction
	Gap junction

ITPR3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ITPR3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/80 Interacting proteins for ITPR3 (Q14573^{1, 2, 3} ENSP00000363435⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRPC3	Q13507¹^,³, ENSP00000368966⁴	EBI-351055,EBI-520807 I2D: score=4 STRING: ENSP00000368966
TRPC6	Q9Y210³, ENSP00000340913⁴	I2D: score=3 STRING: ENSP00000340913
ANK1	P16157³, ENSP00000265709⁴	I2D: score=2 STRING: ENSP00000265709
TRPC5	Q9UL62³, ENSP00000262839⁴	I2D: score=2 STRING: ENSP00000262839
CABP1	Q9NZU7³, ENSP00000317310⁴	I2D: score=1 STRING: ENSP00000317310

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006816	calcium ion transport	--	--
GO:0007165	signal transduction	TAS	--
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	--
GO:0007186	G-protein coupled receptor signaling pathway	ISS	--

ITPR3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ITPR3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ITPR3 available from Tocris Bioscience About this table

Compound	Action	CAS #
2-APB	IP3 receptor antagonist. Also TRP channel modulator	[524-95-8]

2 HMDB Compounds for ITPR3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Inositol 1,4,5-trisphosphate	1D-myo-Inositol 1,4,5-trisphosphate (see all 4)	88269-39-0	--

7 Novoseek chemical compound relationships for ITPR3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inositol 1,4,5 trisphosphate	87.3	38	8610112 (3), 9535884 (3), 16960798 (2), 14666665 (2) (see all 17)
cyclic adp-ribose	55	1	10326677 (1)
thimerosal	54.1	1	10326677 (1)
calcium	53.1	29	15531634 (3), 17257671 (3), 14666665 (2), 12198155 (2) (see all 14)
inositol	26.6	1	7508924 (1)
aspartate	6.99	1	12198155 (1)
atp	1.16	4	15531634 (2), 9535884 (1)

Search CenterWatch for drugs/clinical trials and news about ITPR3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ITPR3 gene:

NM_002224.3

Unigene Cluster for ITPR3:

Inositol 1,4,5-trisphosphate receptor, type 3

Hs.65758 [show with all ESTs]

Unigene Representative Sequence: NM_002224

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000374316(uc021ywr.1)

miRNA Products:		OriGene 3'-UTR Clone: ITPR3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPR3
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPR3 (see all 14):
		hsa-miR-323-3p hsa-miR-142-3p hsa-miR-3910 hsa-miR-148b* hsa-miR-520f hsa-miR-628-3p hsa-miR-223 hsa-miR-3168

		SwitchGear 3'UTR luciferase reporter plasmid: ITPR3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITPR3 (see all 7) OriGene shRNA RFP: ITPR3 OriGene siRNA: ITPR3
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		Sirion Biotech Custom design and validation of potent shRNA sequences against ITPR3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITPR3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITPR3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ITPR3 (NM_002224)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPR3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPR3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ITPR3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat ITPR3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITPR3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPR3

Additional cDNA sequence:

AB209739.1 AK093524.1 AK126969.1 AK128213.1 AL832807.1 BC041398.2 BC146646.1 D26351.1

U01062.1 XR_171566.1

21 DOTS entries:

DT.317607 DT.91657416 DT.95263643 DT.113101 DT.91650432 DT.121314924 DT.65287376 DT.95250226

DT.121314943 DT.121314984 DT.91672426 DT.121314912 DT.317608 DT.100784156 DT.121314959 DT.121314977

DT.91662842 DT.91925061 DT.95263638 DT.100784155 DT.95286385

24/460 AceView cDNA sequences (see all 460):

BU629795 AW192713 BG253044 BU689005 CK000422 BE397264 AW177765 BE790699

AI582463 AW338418 CK000655 AW248924 AI816596 CR620699 BE397068 BI334556

BU620905 BQ014762 AI874281 BG057979 BQ219999 CF265148 AA568682 AI355114

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ITPR3 (see all 12) About this scheme

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:

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:

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:																																															-

ECgene alternative splicing isoforms for ITPR3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ITPR3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCGCTTGTT

About this image

ITPR3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ITPR3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITPR3

SOURCE GeneReport for Unigene cluster: Hs.65758

UniProtKB/Swiss-Prot: ITPR3_HUMAN, Q14573

Tissue specificity: Expressed in intestinal crypt and villus epithelial cells

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ITPR3 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ITPR3¹	inositol 1,4,5-trisphosphate receptor, type 3	83.57(n) 90.04(a)		419910 XM_418035.3 XP_418035.2
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	97(a) 86(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	4(123109922-123143395) 4(123042437-123103467)
zebrafish (Danio rerio)	Actinopterygii	Dr.23369²	Transcribed sequence with moderate similarity to protein more	77.34(n)		CF550030.1
fruit fly (Drosophila melanogaster)	Insecta	Itp-r83A³	molting cycle (sensu Insecta) inositol-1,4,5-triphosphate more	51(a)		--
worm (Caenorhabditis elegans)	Secernentea	itr-1³	inositol 1,4,5-triphosphate receptor	36(a)		IV(7675362-7696891) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ITPR3 gene

RYR2² ITPR2² ITPR1² RYR1² RYR3²

2 SIMAP similar genes for ITPR3 using alignment to 2 protein entries: ITPR3_HUMAN (see all proteins):

ITPR2 ITPR1

ITPR3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140704112^1,2	C	other	33657154(+)	`GGCATC/TGGGCC`	2	I	syn¹		1		NA	4548
rs191859868^1,2		--	33587166(+)	`TTGTCC/TCTCTT`	1	--	us2k¹		0	--	--	--	--
rs7775537^1,2	C,H	--	33587260(+)	`GACATA/CACAGG`	1	--	us2k¹		13		NA WA CSA EA	375
rs7757722^1,2	C,F,H	--	33587322(+)	`GGGGAA/TGATAC`	1	--	us2k¹		24		NS EA NA WA CSA	2183
rs11760139^1,2	C,H	--	33587392(+)	`GGTTCC/TAGTGA`	1	--	us2k¹ tfbs³		7		NA EA WA	602
rs80014305^1,2	C,F	--	33587404(+)	`CCATCG/ACTGTG`	1	--	us2k¹		2		NA EA	240
rs78980102^1,2	F	--	33587430(+)	`GGTAAT/AAGGAG`	1	--	us2k¹		1		WA	118
rs9469529^1,2	C,F,A,H	--	33587443(+)	`TACCCA/GGCTAA`	1	--	us2k¹		35		NS EA NA WA CSA	3557
rs183239731^1,2		--	33587525(+)	`CCTTCC/TCTGGG`	1	--	us2k¹		0	--	--	--	--
rs78775302^1,2	F	--	33587541(+)	`GTCATC/TTCTTT`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for ITPR3 (33588522 - 33664351 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ITPR3
2 CNVs: 30232 36513
1 Indel: 60587
Human Gene Mutation Database (HGMD): ITPR3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ITPR3 for disorders           About GeneDecksing

OMIM gene information: 147267
OMIM disorders: 222100
20 diseases for ITPR3:    About MalaCards

diabetes, type 1 coronary artery aneurysm systemic lupus erythematosus lupus erythematosus

kawasaki disease sjogren's syndrome gastric cancer huntington's disease

peritonitis alzheimer's disease pharyngitis glioblastoma

obesity neuroblastoma thyroiditis pancreatitis

neuronitis carcinoma breast cancer retinitis

1 disease from the University of Copenhagen DISEASES database for ITPR3:

Early myoclonic encephalopathy

4 Novoseek disease relationships for ITPR3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
peritoneal cancer	63.2	4	14666665 (1), 14619519 (1)
malignant ascites	58.5	2	14666665 (1), 14619519 (1)
primary tumor	6.95	2	14666665 (1), 14619519 (1)
gastric cancer	6.11	19	14666665 (4), 14619519 (4)

Genetic Association Database (GAD): ITPR3
Human Genome Epidemiology (HuGE) Navigator: ITPR3 (15 documents)

Export disorders for ITPR3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ITPR3 gene, integrated from 9 sources (see all 110):
(articles sorted by number of sources associating them with ITPR3)

Utopia: connect your pdf to the dynamic
world of online information

Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. (PubMed id 8288584)^{1, 2, 3, 9} Maranto A.R. (1994)
Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PubMed id 8081734)^{1, 2, 3, 9} Yamamoto-Hino M....Mikoshiba K. (1994)
Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. (PubMed id 16960798)^{1, 4, 9} Roach J.C.... . (2006)
Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels. (PubMed id 12032348)^{1, 2} Yang J.... Foskett J.K. (2002)
Possible involvement of inositol 1,4,5-trisphosphate receptor type 3 (IP3R3) in the peritoneal dissemination of gastric cancers. (PubMed id 14666665)^{1, 9} Sakakura C....Yamagishi H. (2003)
Caveolin-1 scaffold domain interacts with TRPC1 and IP3R3 to regulate Ca2+ store release-induced Ca2+ entry in endothelial cells. (PubMed id 19052258)^{1, 9} Sundivakkam P.C....Tiruppathi C. (2009)
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. (PubMed id 18219441)^{1, 9} Oishi T....Matsuda K. (2008)
Regulating ankyrin dynamics: Roles of sigma-1 receptors. (PubMed id 11149946)^{1, 9} Hayashi T. and Su T.P. (2001)
Role of sigma-1 receptor C-terminal segment in inositol 1,4,5-trisphosphate receptor activation: constitutive enhancement of calcium signaling in MCF-7 tumor cells. (PubMed id 18539593)^{1, 9} Wu Z. and Bowen W.D. (2008)
Inositol 1,4,5-trisphosphate receptors are autoantibody target antigens in patients with Sjogren's syndrome and other systemic rheumatic diseases. (PubMed id 17437169)^{1, 9} Miyachi K....Mikoshiba K. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3710	HGNC: 6182	AceView: ITPR3	Ensembl:ENSG00000096433	euGenes: HUgn3710
ECgene: ITPR3	Kegg: 3710	H-InvDB: ITPR3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ITPR3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ITPR3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ITPR3 gene:
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GeneCards and IP:
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ITPR3 Gene

inositol 1,4,5-trisphosphate receptor, type 3

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ITPR3 Gene

inositol 1,4,5-trisphosphate receptor, type 3

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