Entity Details

Primary name ITPR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14571
EntryNameITPR2_HUMAN
FullNameInositol 1,4,5-trisphosphate receptor type 2
TaxID9606
Evidenceevidence at protein level
Length2701
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesITPR2

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005509 calcium ion binding
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0007165 signal transduction
GO:0015085 calcium ion transmembrane transporter activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030168 platelet activation
GO:0030659 cytoplasmic vesicle membrane
GO:0030667 secretory granule membrane
GO:0031095 platelet dense tubular network membrane
GO:0033017 sarcoplasmic reticulum membrane
GO:0035091 phosphatidylinositol binding
GO:0043235 receptor complex
GO:0044325 transmembrane transporter binding
GO:0050796 regulation of insulin secretion
GO:0051209 release of sequestered calcium ion into cytosol
GO:0070679 inositol 1,4,5 trisphosphate binding
GO:0071320 cellular response to cAMP
GO:0071361 cellular response to ethanol
GO:0097110 scaffold protein binding
GO:1903779 regulation of cardiac conduction

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000493 Inositol 1,4,5-trisphosphate receptorFamilyFamily
IPR000699 RIH domainDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR013662 RyR/IP3R Homology associated domainDomainDomain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptorDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR016093 MIR motifDomainDomain
IPR035910 RyR/IP3 receptor binding core, RIH domain superfamilyFamilyHomologous superfamily
IPR036300 Mir domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
106190 OMIMAnhidrosis, isolated, with normal sweat glands (ANHD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00201 CaffeineDrugbanksmall molecule