ITPR2 (inositol 1,4,5-trisphosphate receptor type 2)

2007-04-01 Affiliation

Identity

HGNC

ITPR2

LOCATION

12p11.23

LOCUSID

3709

ALIAS

ANHD,CFAP48,INSP3R2,IP3R2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3709
MIM: 600144
HGNC: 6181
Ensembl: ENSG00000123104

Variants:

dbSNP: 3709
ClinVar: 3709
TCGA: ENSG00000123104
COSMIC: ITPR2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123104	ENST00000242737	Q14571
ENSG00000123104	ENST00000381340	Q14571
ENSG00000123104	ENST00000451599	H7C2X9
ENSG00000123104	ENST00000545235	F5GYT5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Phosphatidylinositol signaling system	KEGG	ko04070
Apoptosis	KEGG	ko04210
Gap junction	KEGG	ko04540
Long-term potentiation	KEGG	ko04720
Long-term depression	KEGG	ko04730
GnRH signaling pathway	KEGG	ko04912
Alzheimer's disease	KEGG	ko05010
Calcium signaling pathway	KEGG	hsa04020
Phosphatidylinositol signaling system	KEGG	hsa04070
Apoptosis	KEGG	hsa04210
Gap junction	KEGG	hsa04540
Long-term potentiation	KEGG	hsa04720
Long-term depression	KEGG	hsa04730
GnRH signaling pathway	KEGG	hsa04912
Alzheimer's disease	KEGG	hsa05010
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Oocyte meiosis	KEGG	ko04114
Oocyte meiosis	KEGG	hsa04114
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Proteoglycans in cancer	KEGG	hsa05205
Proteoglycans in cancer	KEGG	ko05205
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Thyroid hormone synthesis	KEGG	hsa04918
Thyroid hormone synthesis	KEGG	ko04918
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	REACTOME	R-HSA-983695
Innate Immune System	REACTOME	R-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosis	REACTOME	R-HSA-2029480
Role of phospholipids in phagocytosis	REACTOME	R-HSA-2029485
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
DAG and IP3 signaling	REACTOME	R-HSA-1489509
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated Ca+2 mobilization	REACTOME	R-HSA-2871809
C-type lectin receptors (CLRs)	REACTOME	R-HSA-5621481
CLEC7A (Dectin-1) signaling	REACTOME	R-HSA-5607764
CLEC7A (Dectin-1) induces NFAT activation	REACTOME	R-HSA-5607763
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Platelet calcium homeostasis	REACTOME	R-HSA-418360
Elevation of cytosolic Ca2+ levels	REACTOME	R-HSA-139853
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Effects of PIP2 hydrolysis	REACTOME	R-HSA-114508
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
EGFR interacts with phospholipase C-gamma	REACTOME	R-HSA-212718
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
PLC-gamma1 signalling	REACTOME	R-HSA-167021
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (q) signalling events	REACTOME	R-HSA-416476
Opioid Signalling	REACTOME	R-HSA-111885
G-protein mediated events	REACTOME	R-HSA-112040
PLC beta mediated events	REACTOME	R-HSA-112043
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Muscle contraction	REACTOME	R-HSA-397014
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	REACTOME	R-HSA-381676
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447199	Bipolar Disorder	Disease	Literature, MultilinkAnnotation	associated			24718920

References

Pubmed ID	Year	Title	Citations
20935629	2010	Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.	396
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
25966694	2015	Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
21555518	2011	The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.	60
17827064	2007	ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.	59
17827064	2007	ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.	59
19549843	2009	Increased InsP3Rs in the junctional sarcoplasmic reticulum augment Ca2+ transients and arrhythmias associated with cardiac hypertrophy.	50
18936250	2008	Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP.	43

Citation

Dessen P

ITPR2 (inositol 1,4,5-trisphosphate receptor type 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47218/itpr2