Entity Details

Primary name RYR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92736
EntryNameRYR2_HUMAN
FullNameRyanodine receptor 2
TaxID9606
Evidenceevidence at protein level
Length4967
SequenceStatuscomplete
DateCreated2001-09-26
DateModified2021-06-02

Ontological Relatives

GenesRYR2

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0002027 regulation of heart rate
GO:0003143 embryonic heart tube morphogenesis
GO:0003220 left ventricular cardiac muscle tissue morphogenesis
GO:0003300 cardiac muscle hypertrophy
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005262 calcium channel activity
GO:0005509 calcium ion binding
GO:0005513 detection of calcium ion
GO:0005516 calmodulin binding
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0010460 positive regulation of heart rate
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0014850 response to muscle activity
GO:0015278 calcium-release channel activity
GO:0016020 membrane
GO:0016529 sarcoplasmic reticulum
GO:0019722 calcium-mediated signaling
GO:0019899 enzyme binding
GO:0030018 Z disc
GO:0030659 cytoplasmic vesicle membrane
GO:0031000 response to caffeine
GO:0032991 protein-containing complex
GO:0033017 sarcoplasmic reticulum membrane
GO:0034220 ion transmembrane transport
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0034704 calcium channel complex
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0035994 response to muscle stretch
GO:0042383 sarcolemma
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0043924 suramin binding
GO:0044325 transmembrane transporter binding
GO:0048763 calcium-induced calcium release activity
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051284 positive regulation of sequestering of calcium ion
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0051775 response to redox state
GO:0055117 regulation of cardiac muscle contraction
GO:0060048 cardiac muscle contraction
GO:0060402 calcium ion transport into cytosol
GO:0070296 sarcoplasmic reticulum calcium ion transport
GO:0071313 cellular response to caffeine
GO:0071872 cellular response to epinephrine stimulus
GO:0072599 establishment of protein localization to endoplasmic reticulum
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0097050 type B pancreatic cell apoptotic process
GO:0098735 positive regulation of the force of heart contraction
GO:0098904 regulation of AV node cell action potential
GO:0098907 regulation of SA node cell action potential
GO:0098910 regulation of atrial cardiac muscle cell action potential
GO:0098911 regulation of ventricular cardiac muscle cell action potential
GO:1901896 positive regulation of ATPase-coupled calcium transmembrane transporter activity
GO:1903779 regulation of cardiac conduction

Subcellular Location

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Subcellular Location
Membrane
Sarcoplasmic reticulum
Sarcoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000699 RIH domainDomainDomain
IPR001870 B30.2/SPRY domainDomainDomain
IPR002048 EF-hand domainDomainDomain
IPR003032 Ryanodine receptor RyrDomainDomain
IPR003877 SPRY domainDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR009460 Ryanodine Receptor TM 4-6DomainDomain
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR013320 Concanavalin A-like lectin/glucanase domain superfamilyFamilyHomologous superfamily
IPR013333 Ryanodine receptorFamilyFamily
IPR013662 RyR/IP3R Homology associated domainDomainDomain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptorDomainDomain
IPR016093 MIR motifDomainDomain
IPR035761 Ryanodine receptor, SPRY domain 1DomainDomain
IPR035762 Ryanodine receptor, SPRY domain 3DomainDomain
IPR035764 Ryanodine receptor, SPRY domain 2DomainDomain
IPR035910 RyR/IP3 receptor binding core, RIH domain superfamilyFamilyHomologous superfamily
IPR036300 Mir domain superfamilyFamilyHomologous superfamily
IPR043136 B30.2/SPRY domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
600996 OMIMArrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2)A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by variants affecting the gene represented in this entry.
604772 OMIMVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01195 FlecainideDrugbanksmall molecule
DB09085 TetracaineDrugbanksmall molecule
DB11093 Calcium citrateDrugbanksmall molecule
DB11348 Calcium PhosphateDrugbanksmall molecule
DB14481 Calcium phosphate dihydrateDrugbanksmall molecule

Interactions

29 interactions

InteractorPartnerSourcesPublicationsLink
RYR2_HUMANSMAD5_HUMANBioGRID, HPRD, MINT15231748 details
RYR2_HUMANMDM2_HUMANBioGRID, IntAct20195357 details
RYR2_HUMANFKB1A_HUMANHPIDb11237759 details
RYR2_HUMANFKB1B_HUMANbhf-ucl, BioGRID, HPIDb, HPRD, IntAct10830164 11237759 12443530 12446682 21262961 23233753 details
RYR2_HUMANKAPCA_HUMANbhf-ucl, BioGRID, HPRD10830164 details
RYR2_HUMANAKAP6_HUMANbhf-ucl, BioGRID, HPRD10830164 11352932 details
RYR2_HUMANHSPB2_HUMANbhf-ucl, BioGRID26465331 details
RYR2_HUMANHOME1_HUMANBioGRID, HPRD12887973 details
RYR2_HUMANKAPCG_HUMANBioGRID10830164 details
RYR2_HUMANKAPCB_HUMANBioGRID10830164 details
RYR2_HUMANRYR2_HUMANBioGRID10830164 14722100 21262961 25411383 details
RYR2_HUMANRYR1_HUMANBioGRID, HPRD12213830 14722100 details
RYR2_HUMANCAC1C_HUMANBioGRID, HPRD11576544 details
RYR2_HUMANCALM1_HUMANBioGRID23040497 26164367 details
RYR2_HUMANCALM2_HUMANBioGRID23040497 26164367 details
RYR2_HUMANCALM3_HUMANBioGRID23040497 26164367 details
RYR2_HUMANPSN1_HUMANBioGRID24029002 details
RYR2_HUMANKCC2D_HUMANDIP20479242 details
RYR2_HUMANBIN1_HUMANIntAct31413325 details
RYR2_HUMANKAP2_HUMANBioGRID, HPRD10830164 details
RYR2_HUMANKAP3_HUMANBioGRID10830164 details
RYR2_HUMANPP1A_HUMANBioGRID10830164 details
RYR2_HUMANPP1B_HUMANBioGRID10830164 details
RYR2_HUMANPP1G_HUMANBioGRID10830164 details
RYR2_HUMANRYR3_HUMANBioGRID, HPRD12213830 details
RYR2_HUMANSORCN_HUMANBioGRID, HPRD7592856 details
RYR2_HUMANTERF1_HUMANBioGRID20811636 details
RYR2_HUMANTERF2_HUMANBioGRID20811636 details
RYR2_HUMANITPR1_HUMANHPRD12754204 details