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ITPR2

GENERAL INFORMATION

Gene name

 ITPR2

Gene description

 Inositol 1,4,5-trisphosphate receptor, type 2

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA059144
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Breast

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ITPR2 (HGNC Symbol)

Synonyms

 CFAP48, IP3R2

Description

 Inositol 1,4,5-trisphosphate receptor, type 2 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 12

Cytoband

 p11.23

Chromosome location (bp)

 26336515 - 26833198

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000123104 (version 83.38)

Entrez gene

 3709

UniProt

 Q14571 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14571

Antibodypedia

 ITPR2 antibodies

PROTEIN BROWSER
ITPR2-001
ITPR2-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ITPR2-001
ENSP00000370744
ENST00000381340
Q14571 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 2
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
GO:0005216 [ion channel activity]
GO:0005220 [inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0005262 [calcium channel activity]
GO:0005488 [binding]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0005938 [cell cortex]
GO:0006112 [energy reserve metabolic process]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007202 [activation of phospholipase C activity]
GO:0007596 [blood coagulation]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0015085 [calcium ion transmembrane transporter activity]
GO:0015278 [calcium-release channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016529 [sarcoplasmic reticulum]
GO:0030168 [platelet activation]
GO:0031095 [platelet dense tubular network membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0035091 [phosphatidylinositol binding]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045087 [innate immune response]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
GO:0071320 [cellular response to cAMP]
GO:0071361 [cellular response to ethanol]
Show all
 2701 aa
308.1 kDa 		No 6
ITPR2-002
ENSP00000242737
ENST00000242737
Q14571 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 2
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0006112 [energy reserve metabolic process]
GO:0006810 [transport]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007202 [activation of phospholipase C activity]
GO:0007596 [blood coagulation]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030168 [platelet activation]
GO:0031095 [platelet dense tubular network membrane]
GO:0033017 [sarcoplasmic reticulum membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045087 [innate immune response]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0070588 [calcium ion transmembrane transport]
Show all
 181 aa
20.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.