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UniProtKB - Q92736 (RYR2_HUMAN)

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Protein

Ryanodine receptor 2

Gene

RYR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca2+ levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.2 Publications

Miscellaneous

Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity).By similarity

GO - Molecular functioni

  • calcium channel activity Source: UniProtKB
  • calcium-induced calcium release activity Source: BHF-UCL
  • calcium ion binding Source: GO_Central
  • calcium-release channel activity Source: BHF-UCL
  • calmodulin binding Source: BHF-UCL
  • enzyme binding Source: BHF-UCL
  • identical protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • protein kinase A catalytic subunit binding Source: BHF-UCL
  • protein kinase A regulatory subunit binding Source: BHF-UCL
  • protein self-association Source: Ensembl
  • ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  • suramin binding Source: BHF-UCL
Complete GO annotation...

GO - Biological processi

  • BMP signaling pathway Source: Ensembl
  • calcium ion transport Source: BHF-UCL
  • calcium ion transport into cytosol Source: BHF-UCL
  • calcium-mediated signaling Source: UniProtKB
  • calcium-mediated signaling using intracellular calcium source Source: BHF-UCL
  • canonical Wnt signaling pathway Source: Ensembl
  • cardiac muscle contraction Source: BHF-UCL
  • cardiac muscle hypertrophy Source: BHF-UCL
  • cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
  • cellular calcium ion homeostasis Source: UniProtKB
  • cellular response to caffeine Source: BHF-UCL
  • cellular response to epinephrine stimulus Source: BHF-UCL
  • detection of calcium ion Source: BHF-UCL
  • embryonic heart tube morphogenesis Source: UniProtKB
  • establishment of protein localization to endoplasmic reticulum Source: BHF-UCL
  • ion transmembrane transport Source: Reactome
  • left ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
  • positive regulation of calcium-transporting ATPase activity Source: BHF-UCL
  • positive regulation of heart rate Source: BHF-UCL
  • positive regulation of sequestering of calcium ion Source: BHF-UCL
  • positive regulation of the force of heart contraction Source: BHF-UCL
  • Purkinje myocyte to ventricular cardiac muscle cell signaling Source: BHF-UCL
  • regulation of atrial cardiac muscle cell action potential Source: BHF-UCL
  • regulation of AV node cell action potential Source: BHF-UCL
  • regulation of cardiac conduction Source: Reactome
  • regulation of cardiac muscle contraction Source: BHF-UCL
  • regulation of cardiac muscle contraction by calcium ion signaling Source: BHF-UCL
  • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
  • regulation of cytosolic calcium ion concentration Source: BHF-UCL
  • regulation of heart rate Source: BHF-UCL
  • regulation of SA node cell action potential Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
  • release of sequestered calcium ion into cytosol Source: BHF-UCL
  • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
  • response to caffeine Source: BHF-UCL
  • response to hypoxia Source: BHF-UCL
  • response to muscle activity Source: BHF-UCL
  • response to muscle stretch Source: BHF-UCL
  • response to redox state Source: BHF-UCL
  • sarcoplasmic reticulum calcium ion transport Source: BHF-UCL
  • type B pancreatic cell apoptotic process Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywordsi

Molecular functionCalcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.
SIGNORiQ92736.

Protein family/group databases

TCDBi1.A.3.1.1. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Ryanodine receptor 2
Short name:
RYR-2
Short name:
RyR2
Short name:
hRYR-2
Alternative name(s):
Cardiac muscle ryanodine receptor
Cardiac muscle ryanodine receptor-calcium release channel
Type 2 ryanodine receptor
Gene namesi
Name:RYR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10484. RYR2.

Subcellular locationi

  • Sarcoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication
  • Membrane 1 Publication; Multi-pass membrane protein 1 Publication
  • Sarcoplasmic reticulum By similarity

    • Note: The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 4281CytoplasmicSequence analysisAdd BLAST4281
Transmembranei4282 – 4302HelicalSequence analysisAdd BLAST21
Transmembranei4504 – 4524HelicalSequence analysisAdd BLAST21
Transmembranei4580 – 4600HelicalSequence analysisAdd BLAST21
Transmembranei4730 – 4750HelicalSequence analysisAdd BLAST21
Transmembranei4769 – 4789HelicalSequence analysisAdd BLAST21
Intramembranei4820 – 4829Pore-formingBy similarity10
Transmembranei4850 – 4870HelicalSequence analysisAdd BLAST21
Topological domaini4871 – 4967CytoplasmicSequence analysisAdd BLAST97

GO - Cellular componenti

  • calcium channel complex Source: BHF-UCL
  • extracellular exosome Source: UniProtKB
  • junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  • membrane Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • protein complex Source: MGI
  • sarcoplasmic reticulum Source: BHF-UCL
  • sarcoplasmic reticulum membrane Source: BHF-UCL
  • smooth endoplasmic reticulum Source: Ensembl
  • Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600996
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044087176R → Q in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs794728708Ensembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918602Ensembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918601Ensembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs769219555Ensembl.1
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:604772
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044086164P → S in CPVT1. 1 Publication1
Natural variantiVAR_044087176R → Q in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs794728708Ensembl.1
Natural variantiVAR_044088414R → L in CPVT1. 1 Publication1
Natural variantiVAR_044089419I → F in CPVT1; decreases protein stability. 2 Publications1
Natural variantiVAR_044090420R → W in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs190140598Ensembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918602Ensembl.1
Natural variantiVAR_0113962246S → L in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918597Ensembl.1
Natural variantiVAR_0236942306V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728746Ensembl.1
Natural variantiVAR_0440922311E → D in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728747Ensembl.1
Natural variantiVAR_0113972328P → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918603Ensembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918601Ensembl.1
Natural variantiVAR_0440932387A → P in CPVT1. 1 Publication1
Natural variantiVAR_0440942392Y → C in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs772220753Ensembl.1
Natural variantiVAR_0440952403A → T in CPVT1. 1 Publication1
Natural variantiVAR_0113992474R → S in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918598Ensembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs769219555Ensembl.1
Natural variantiVAR_0440973778L → F in CPVT1. 1 Publication1
Natural variantiVAR_0440983946G → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728777Ensembl.1
Natural variantiVAR_0440994097N → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728784Ensembl.1
Natural variantiVAR_0114004104N → K in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918599Ensembl.1
Natural variantiVAR_0441004146E → K in CPVT1. 1 Publication1
Natural variantiVAR_0441014158T → P in CPVT1. 1 Publication1
Natural variantiVAR_0114014201Q → R in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918605Ensembl.1
Natural variantiVAR_0114024497R → C in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918600Ensembl.1
Natural variantiVAR_0441024499F → C in CPVT1. 1 Publication1
Natural variantiVAR_0441034504M → I in CPVT1. 1 Publication1
Natural variantiVAR_0441044510A → T in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs397516510Ensembl.1
Natural variantiVAR_0441054607A → P in CPVT1. 1 Publication1
Natural variantiVAR_0114034653V → F in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918604Ensembl.1
Natural variantiVAR_0441064671G → R in CPVT1. 1 Publication1
Natural variantiVAR_0441074771V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728804Ensembl.1
Natural variantiVAR_0441084848I → V in CPVT1. 1 Publication1
Natural variantiVAR_0441094860A → G in CPVT1; diminishes the response to activation by luminal Ca(2+) but has little effect on the sensitivity of the channel to activation by cytosolic Ca(2+); shows caffeine-induced Ca(2+) release but exhibits no store-overload-induced Ca(2+) release (SOICR); HL1 cardiac cells transfected with the G-4860 mutant displayed attenuated SOICR activity compared to cells transfected with wild-type RYR2. 2 PublicationsCorresponds to variant dbSNP:rs121918606Ensembl.1
Natural variantiVAR_0441104867I → M in CPVT1. 1 Publication1
Natural variantiVAR_0441114880V → A in CPVT1. 1 Publication1
Natural variantiVAR_0441124895N → D in CPVT1. 1 Publication1
Natural variantiVAR_0236954902P → L in CPVT1. 1 Publication1
Natural variantiVAR_0441134950E → K in CPVT1. 1 Publication1
Natural variantiVAR_0236964959R → Q in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728811Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2808S → A: Abolishes phosphorylation by PKA. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi6262.
MalaCardsiRYR2.
MIMi600996. phenotype.
604772. phenotype.
OpenTargetsiENSG00000198626.
Orphaneti3286. Catecholaminergic polymorphic ventricular tachycardia.
293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form.
293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.

Chemistry databases

DrugBankiDB09085. Tetracaine.
GuidetoPHARMACOLOGYi748.

Polymorphism and mutation databases

BioMutaiRYR2.
DMDMi308153558.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193611 – 4967Ryanodine receptor 2Add BLAST4967

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1341PhosphoserineBy similarity1
Modified residuei1869PhosphoserineBy similarity1
Modified residuei2031Phosphoserine; by PKABy similarity1
Modified residuei2369PhosphoserineBy similarity1
Modified residuei2697PhosphoserineBy similarity1
Modified residuei2797PhosphoserineBy similarity1
Modified residuei2808Phosphoserine; by CaMK2D and PKA2 Publications1
Modified residuei2811PhosphoserineBy similarity1
Modified residuei2814Phosphoserine; by CaMK2D1 Publication1
Modified residuei2947PhosphoserineBy similarity1

Post-translational modificationi

Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca2+ levels.2 Publications
Phosphorylation at Ser-2031 by PKA enhances the response to lumenal calcium.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92736.
MaxQBiQ92736.
PaxDbiQ92736.
PeptideAtlasiQ92736.
PRIDEiQ92736.

PTM databases

iPTMnetiQ92736.
PhosphoSitePlusiQ92736.

Expressioni

Tissue specificityi

Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta.2 Publications

Developmental stagei

Expressed in myometrium during pregnancy.1 Publication

Inductioni

By TGFB1.1 Publication

Gene expression databases

BgeeiENSG00000198626.
CleanExiHS_RYR2.
ExpressionAtlasiQ92736. baseline and differential.
GenevisibleiQ92736. HS.

Organism-specific databases

HPAiHPA020028.

Interactioni

Subunit structurei

Homotetramer. Can also form heterotetramers with RYR1 and RYR3 (By similarity). Interacts with FKBP1A and FKBP1B; these interactions may stabilize the channel in its closed state and prevent Ca2+ leaks. Interacts with CALM and S100A1; these interactions regulate channel activity. Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with FKBP1B, PKA, PP1 and PP2A. Interacts with SELENON (By similarity).By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • calmodulin binding Source: BHF-UCL
  • enzyme binding Source: BHF-UCL
  • identical protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • protein kinase A catalytic subunit binding Source: BHF-UCL
  • protein kinase A regulatory subunit binding Source: BHF-UCL
  • protein self-association Source: Ensembl
Complete GO annotation...

Protein-protein interaction databases

BioGridi112174. 25 interactors.
DIPiDIP-38325N.
IntActiQ92736. 10 interactors.
MINTiMINT-1201008.
STRINGi9606.ENSP00000355533.

Structurei

Secondary structure

14967
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi19 – 28Combined sources10
Beta strandi31 – 38Combined sources8
Beta strandi48 – 51Combined sources4
Turni53 – 57Combined sources5
Helixi63 – 65Combined sources3
Beta strandi67 – 73Combined sources7
Turni108 – 110Combined sources3
Beta strandi118 – 127Combined sources10
Beta strandi129 – 132Combined sources4
Turni139 – 141Combined sources3
Beta strandi145 – 151Combined sources7
Beta strandi159 – 166Combined sources8
Beta strandi180 – 185Combined sources6
Turni186 – 188Combined sources3
Beta strandi191 – 196Combined sources6
Beta strandi198 – 208Combined sources11
Beta strandi212 – 218Combined sources7
Beta strandi233 – 238Combined sources6
Turni239 – 242Combined sources4
Beta strandi243 – 246Combined sources4
Beta strandi250 – 252Combined sources3
Helixi256 – 258Combined sources3
Beta strandi261 – 263Combined sources3
Helixi265 – 269Combined sources5
Helixi271 – 273Combined sources3
Beta strandi275 – 280Combined sources6
Turni283 – 286Combined sources4
Beta strandi295 – 299Combined sources5
Turni300 – 302Combined sources3
Beta strandi305 – 308Combined sources4
Beta strandi310 – 312Combined sources3
Beta strandi314 – 317Combined sources4
Helixi319 – 321Combined sources3
Helixi324 – 327Combined sources4
Beta strandi329 – 336Combined sources8
Beta strandi340 – 342Combined sources3
Turni356 – 358Combined sources3
Beta strandi360 – 365Combined sources6
Turni366 – 368Combined sources3
Beta strandi371 – 375Combined sources5
Beta strandi388 – 396Combined sources9
Beta strandi403 – 407Combined sources5
Helixi410 – 437Combined sources28
Helixi442 – 444Combined sources3
Helixi449 – 462Combined sources14
Helixi472 – 491Combined sources20
Helixi494 – 506Combined sources13
Beta strandi508 – 510Combined sources3
Helixi511 – 518Combined sources8
Helixi520 – 541Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JKQX-ray2.39A1-606[»]
ProteinModelPortaliQ92736.
SMRiQ92736.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini110 – 165MIR 1PROSITE-ProRule annotationAdd BLAST56
Domaini172 – 217MIR 2PROSITE-ProRule annotationAdd BLAST46
Domaini225 – 280MIR 3PROSITE-ProRule annotationAdd BLAST56
Domaini286 – 343MIR 4PROSITE-ProRule annotationAdd BLAST58
Domaini351 – 408MIR 5PROSITE-ProRule annotationAdd BLAST58
Domaini599 – 809B30.2/SPRY 1PROSITE-ProRule annotationAdd BLAST211
Repeati853 – 9661Add BLAST114
Repeati967 – 10802Add BLAST114
Domaini1025 – 1222B30.2/SPRY 2PROSITE-ProRule annotationAdd BLAST198
Domaini1337 – 1562B30.2/SPRY 3PROSITE-ProRule annotationAdd BLAST226
Repeati2692 – 28103Add BLAST119
Repeati2812 – 29254Add BLAST114

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni853 – 29254 X approximate repeatsAdd BLAST2073
Regioni3581 – 3610Interaction with CALM1 PublicationAdd BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili4412 – 4445Sequence analysisAdd BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4414 – 4455Glu-rich (acidic)Add BLAST42

Domaini

The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.Curated

Sequence similaritiesi

Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. [View classification]Curated

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2243. Eukaryota.
ENOG410YCNW. LUCA.
GeneTreeiENSGT00760000119152.
HOGENOMiHOG000231428.
HOVERGENiHBG006699.
InParanoidiQ92736.
KOiK04962.
OMAiEHMPNDT.
OrthoDBiEOG091G00T0.
PhylomeDBiQ92736.
TreeFamiTF315244.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiView protein in InterPro
IPR011989. ARM-like.
IPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR014821. Ins145_P3_rcpt.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR013333. Ryan_recept.
IPR003032. Ryanodine_rcpt.
IPR015925. Ryanodine_recept-rel.
IPR009460. Ryanrecept_TM4-6.
IPR003877. SPRY_dom.
PANTHERiPTHR13715. PTHR13715. 1 hit.
PfamiView protein in Pfam
PF13833. EF-hand_8. 1 hit.
PF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF06459. RR_TM4-6. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
PF02026. RyR. 4 hits.
PF00622. SPRY. 3 hits.
PRINTSiPR00795. RYANODINER.
SMARTiView protein in SMART
SM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF47473. SSF47473. 1 hit.
SSF49899. SSF49899. 2 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiView protein in PROSITE
PS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92736-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE 
        60         70         80         90        100
STSNSKNVPP DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF 
       110        120        130        140        150
MMKTAQGGGH RTLLYGHAIL LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ 
       160        170        180        190        200
EDTTGEACWW TIHPASKQRS EGEKVRVGDD LILVSVSSER YLHLSYGNGS 
       210        220        230        240        250
LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH MDECLTVPSG 
       260        270        280        290        300
EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV 
       310        320        330        340        350
TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG 
       360        370        380        390        400
TSEIKYGDSV CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD 
       410        420        430        440        450
DGISLSRSQH EESRTARVIR STVFLFNRFI RGLDALSKKA KASTVDLPIE 
       460        470        480        490        500
SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR ALKNRQNLFQ EEGMINLVLE 
       510        520        530        540        550
CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL IRGNRKNCAQ 
       560        570        580        590        600
FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL 
       610        620        630        640        650
LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN 
       660        670        680        690        700
HVSSMRPNIF LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST 
       710        720        730        740        750
EGYSPYPGGG EEWGGNGVGD DLFSYGFDGL HLWSGCIART VSSPNQHLLR 
       760        770        780        790        800
TDDVISCCLD LSAPSISFRI NGQPVQGMFE NFNIDGLFFP VVSFSAGIKV 
       810        820        830        840        850
RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY KQERTYTRDL 
       860        870        880        890        900
LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL 
       910        920        930        940        950
GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV 
       960        970        980        990       1000
GISDEHAEDK VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA 
      1010       1020       1030       1040       1050
ENAHNVWARD RIRQGWTYGI QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL 
      1060       1070       1080       1090       1100
REAVRTLLGY GYNLEAPDQD HAARAEVCSG TGERFRIFRA EKTYAVKAGR 
      1110       1120       1130       1140       1150
WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF KAQRWHQGNE 
      1160       1170       1180       1190       1200
HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG 
      1210       1220       1230       1240       1250
FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW 
      1260       1270       1280       1290       1300
LSKRLPQFLQ VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM 
      1310       1320       1330       1340       1350
FYRLSMPIEC AEVFSKTVAG GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA 
      1360       1370       1380       1390       1400
HGHLVPDRVD KDKEATKPEF NNHKDYAQEK PSRLKQRFLL RRTKPDYSTS 
      1410       1420       1430       1440       1450
HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN VWVGWITSDF 
      1460       1470       1480       1490       1500
HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR 
      1510       1520       1530       1540       1550
NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP 
      1560       1570       1580       1590       1600
NVFQFELGRI KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP 
      1610       1620       1630       1640       1650
NQFLKVDVSR ISERQGWLVQ CLDPLQFMSL HIPEENRSVD ILELTEQEEL 
      1660       1670       1680       1690       1700
LKFHYHTLRL YSAVCALGNH RVAHALCSHV DEPQLLYAIE NKYMPGLLRA 
      1710       1720       1730       1740       1750
GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP DENKKHGLPG 
      1760       1770       1780       1790       1800
IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK 
      1810       1820       1830       1840       1850
EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV 
      1860       1870       1880       1890       1900
FKEAATPEEE SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE 
      1910       1920       1930       1940       1950
PVKLQMCLLL QYLCDCQVRH RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA 
      1960       1970       1980       1990       2000
LNMSAALTAR KTKEFRSPPQ EQINMLLNFK DDKSECPCPE EIRDQLLDFH 
      2010       2020       2030       2040       2050
EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK KKQAEKPVES 
      2060       2070       2080       2090       2100
DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR 
      2110       2120       2130       2140       2150
ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM 
      2160       2170       2180       2190       2200
NNKVFYQHPN LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL 
      2210       2220       2230       2240       2250
CYFCRISRQN QKAMFDHLSY LLENSSVGLA SPAMRGSTPL DVAAASVMDN 
      2260       2270       2280       2290       2300
NELALALREP DLEKVVRYLA GCGLQSCQML VSKGYPDIGW NPVEGERYLD 
      2310       2320       2330       2340       2350
FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG NGLLAAMEEA 
      2360       2370       2380       2390       2400
IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG 
      2410       2420       2430       2440       2450
RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN 
      2460       2470       2480       2490       2500
VVEPDMSAGF CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA 
      2510       2520       2530       2540       2550
SLDTAALSAT DMALALNRYL CTAVLPLLTR CAPLFAGTEH HASLIDSLLH 
      2560       2570       2580       2590       2600
TVYRLSKGCS LTKAQRDSIE VCLLSICGQL RPSMMQHLLR RLVFDVPLLN 
      2610       2620       2630       2640       2650
EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL SRKLFWGIFD 
      2660       2670       2680       2690       2700
ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN 
      2710       2720       2730       2740       2750
FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS 
      2760       2770       2780       2790       2800
SKVQPLMKPY KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL 
      2810       2820       2830       2840       2850
YNRTRRISQT SQVSVDAAHG YSPRAIDMSN VTLSRDLHAM AEMMAENYHN 
      2860       2870       2880       2890       2900
IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK EKAKDREKAQ DILKFLQING 
      2910       2920       2930       2940       2950
YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI LEFDGGSRGK 
      2960       2970       2980       2990       3000
GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE 
      3010       3020       3030       3040       3050
KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL 
      3060       3070       3080       3090       3100
ESVKSALRAF LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA 
      3110       3120       3130       3140       3150
LLPMLSSLFE HIGQHQFGED LILEDVQVSC YRILTSLYAL GTSKSIYVER 
      3160       3170       3180       3190       3200
QRSALGECLA AFAGAFPVAF LETHLDKHNI YSIYNTKSSR ERAALSLPTN 
      3210       3220       3230       3240       3250
VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP MLCSYMSRWW 
      3260       3270       3280       3290       3300
EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA 
      3310       3320       3330       3340       3350
VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE 
      3360       3370       3380       3390       3400
AELLILDEFT TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA 
      3410       3420       3430       3440       3450
EVFIYWSKSH NFKREEQNFV VQNEINNMSF LITDTKSKMS KAAVSDQERK 
      3460       3470       3480       3490       3500
KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI CAPGDQELIA LAKNRFSLKD 
      3510       3520       3530       3540       3550
TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD TSDPEKTVER 
      3560       3570       3580       3590       3600
VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV 
      3610       3620       3630       3640       3650
ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE 
      3660       3670       3680       3690       3700
PPEEDEGTKR VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH 
      3710       3720       3730       3740       3750
DEEDDDGEEE VKSFEEKEME KQKLLYQQAR LHDRGAAEMV LQTISASKGE 
      3760       3770       3780       3790       3800
TGPMVAATLK LGIAILNGGN STVQQKMLDY LKEKKDVGFF QSLAGLMQSC 
      3810       3820       3830       3840       3850
SVLDLNAFER QNKAEGLGMV TEEGSGEKVL QDDEFTCDLF RFLQLLCEGH 
      3860       3870       3880       3890       3900
NSDFQNYLRT QTGNNTTVNI IISTVDYLLR VQESISDFYW YYSGKDVIDE 
      3910       3920       3930       3940       3950
QGQRNFSKAI QVAKQVFNTL TEYIQGPCTG NQQSLAHSRL WDAVVGFLHV 
      3960       3970       3980       3990       4000
FAHMQMKLSQ DSSQIELLKE LMDLQKDMVV MLLSMLEGNV VNGTIGKQMV 
      4010       4020       4030       4040       4050
DMLVESSNNV EMILKFFDMF LKLKDLTSSD TFKEYDPDGK GVISKRDFHK 
      4060       4070       4080       4090       4100
AMESHKHYTQ SETEFLLSCA ETDENETLDY EEFVKRFHEP AKDIGFNVAV 
      4110       4120       4130       4140       4150
LLTNLSEHMP NDTRLQTFLE LAESVLNYFQ PFLGRIEIMG SAKRIERVYF 
      4160       4170       4180       4190       4200
EISESSRTQW EKPQVKESKR QFIFDVVNEG GEKEKMELFV NFCEDTIFEM 
      4210       4220       4230       4240       4250
QLAAQISESD LNERSANKEE SEKERPEEQG PRMAFFSILT VRSALFALRY 
      4260       4270       4280       4290       4300
NILTLMRMLS LKSLKKQMKK VKKMTVKDMV TAFFSSYWSI FMTLLHFVAS 
      4310       4320       4330       4340       4350
VFRGFFRIIC SLLLGGSLVE GAKKIKVAEL LANMPDPTQD EVRGDGEEGE 
      4360       4370       4380       4390       4400
RKPLEAALPS EDLTDLKELT EESDLLSDIF GLDLKREGGQ YKLIPHNPNA 
      4410       4420       4430       4440       4450
GLSDLMSNPV PMPEVQEKFQ EQKAKEEEKE EKEETKSEPE KAEGEDGEKE 
      4460       4470       4480       4490       4500
EKAKEDKGKQ KLRQLHTHRY GEPEVPESAF WKKIIAYQQK LLNYFARNFY 
      4510       4520       4530       4540       4550
NMRMLALFVA FAINFILLFY KVSTSSVVEG KELPTRSSSE NAKVTSLDSS 
      4560       4570       4580       4590       4600
SHRIIAVHYV LEESSGYMEP TLRILAILHT VISFFCIIGY YCLKVPLVIF 
      4610       4620       4630       4640       4650
KREKEVARKL EFDGLYITEQ PSEDDIKGQW DRLVINTQSF PNNYWDKFVK 
      4660       4670       4680       4690       4700
RKVMDKYGEF YGRDRISELL GMDKAALDFS DAREKKKPKK DSSLSAVLNS 
      4710       4720       4730       4740       4750
IDVKYQMWKL GVVFTDNSFL YLAWYMTMSV LGHYNNFFFA AHLLDIAMGF 
      4760       4770       4780       4790       4800
KTLRTILSSV THNGKQLVLT VGLLAVVVYL YTVVAFNFFR KFYNKSEDGD 
      4810       4820       4830       4840       4850
TPDMKCDDML TCYMFHMYVG VRAGGGIGDE IEDPAGDEYE IYRIIFDITF 
      4860       4870       4880       4890       4900
FFFVIVILLA IIQGLIIDAF GELRDQQEQV KEDMETKCFI CGIGNDYFDT 
      4910       4920       4930       4940       4950
VPHGFETHTL QEHNLANYLF FLMYLINKDE TEHTGQESYV WKMYQERCWE 
      4960 
FFPAGDCFRK QYEDQLN
Length:4,967
Mass (Da):564,567
Last modified:October 5, 2010 - v3
Checksum:i44984485F8677B42
GO
Isoform 2 (identifier: Q92736-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3715-3715: E → EVTGSQRSK

Show »
Length:4,975
Mass (Da):565,411
Checksum:iC24909FF9BC665B6
GO

Sequence cautioni

The sequence CAH71369 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAH71393 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAH73918 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAI14440 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAI15350 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAI15936 differs from that shown. Erroneous gene model prediction.Curated
The sequence CAI22065 differs from that shown. Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1037L → P in CAA66975 (PubMed:8809036).Curated1
Sequence conflicti1037L → P in CAC18855 (PubMed:11159936).Curated1
Sequence conflicti2785 – 2789WGWRI → RTMRT in CAA66975 (PubMed:8809036).Curated5
Sequence conflicti2785 – 2789WGWRI → RTMRT in CAC18855 (PubMed:11159936).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07528329H → D Found in a patient with short-coupled polymorphic ventricular tachycardia at rest; unknown pathological significance; no effect on cytosolic Ca(2+) activation. 2 Publications1
Natural variantiVAR_044086164P → S in CPVT1. 1 Publication1
Natural variantiVAR_044087176R → Q in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs794728708Ensembl.1
Natural variantiVAR_044088414R → L in CPVT1. 1 Publication1
Natural variantiVAR_044089419I → F in CPVT1; decreases protein stability. 2 Publications1
Natural variantiVAR_044090420R → W in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs190140598Ensembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918602Ensembl.1
Natural variantiVAR_044091507V → I. Corresponds to variant dbSNP:rs16835270Ensembl.1
Natural variantiVAR_0220781886G → S. Corresponds to variant dbSNP:rs3766871Ensembl.1
Natural variantiVAR_0113962246S → L in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918597Ensembl.1
Natural variantiVAR_0236942306V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728746Ensembl.1
Natural variantiVAR_0440922311E → D in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728747Ensembl.1
Natural variantiVAR_0113972328P → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918603Ensembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918601Ensembl.1
Natural variantiVAR_0440932387A → P in CPVT1. 1 Publication1
Natural variantiVAR_0440942392Y → C in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs772220753Ensembl.1
Natural variantiVAR_0440952403A → T in CPVT1. 1 Publication1
Natural variantiVAR_0113992474R → S in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918598Ensembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs769219555Ensembl.1
Natural variantiVAR_0115902958Q → R1 PublicationCorresponds to variant dbSNP:rs34967813Ensembl.1
Natural variantiVAR_0440973778L → F in CPVT1. 1 Publication1
Natural variantiVAR_0440983946G → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728777Ensembl.1
Natural variantiVAR_0440994097N → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728784Ensembl.1
Natural variantiVAR_0114004104N → K in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918599Ensembl.1
Natural variantiVAR_0441004146E → K in CPVT1. 1 Publication1
Natural variantiVAR_0441014158T → P in CPVT1. 1 Publication1
Natural variantiVAR_0114014201Q → R in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918605Ensembl.1
Natural variantiVAR_0114024497R → C in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918600Ensembl.1
Natural variantiVAR_0441024499F → C in CPVT1. 1 Publication1
Natural variantiVAR_0441034504M → I in CPVT1. 1 Publication1
Natural variantiVAR_0441044510A → T in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs397516510Ensembl.1
Natural variantiVAR_0441054607A → P in CPVT1. 1 Publication1
Natural variantiVAR_0114034653V → F in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918604Ensembl.1
Natural variantiVAR_0441064671G → R in CPVT1. 1 Publication1
Natural variantiVAR_0441074771V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728804Ensembl.1
Natural variantiVAR_0441084848I → V in CPVT1. 1 Publication1
Natural variantiVAR_0441094860A → G in CPVT1; diminishes the response to activation by luminal Ca(2+) but has little effect on the sensitivity of the channel to activation by cytosolic Ca(2+); shows caffeine-induced Ca(2+) release but exhibits no store-overload-induced Ca(2+) release (SOICR); HL1 cardiac cells transfected with the G-4860 mutant displayed attenuated SOICR activity compared to cells transfected with wild-type RYR2. 2 PublicationsCorresponds to variant dbSNP:rs121918606Ensembl.1
Natural variantiVAR_0441104867I → M in CPVT1. 1 Publication1
Natural variantiVAR_0441114880V → A in CPVT1. 1 Publication1
Natural variantiVAR_0441124895N → D in CPVT1. 1 Publication1
Natural variantiVAR_0236954902P → L in CPVT1. 1 Publication1
Natural variantiVAR_0441134950E → K in CPVT1. 1 Publication1
Natural variantiVAR_0786484955G → E Probable disease-associated mutation found in a patient with intellectual disability, seizures, short stature and severe atrial arrhythmias. 1 Publication1
Natural variantiVAR_0236964959R → Q in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728811Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0059533715E → EVTGSQRSK in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98330 mRNA. Translation: CAA66975.1.
AJ300340
, AJ300341, AJ300342, AJ300343, AJ300347, AJ300349, AJ300351, AJ300353, AJ300355, AJ300364, AJ300363, AJ300362, AJ300361, AJ300360, AJ300359, AJ300358, AJ300357, AJ300356, AJ300373, AJ300372, AJ300371, AJ300370, AJ300369, AJ300368, AJ300367, AJ300366, AJ300365, AJ300382, AJ300381, AJ300380, AJ300379, AJ300378, AJ300377, AJ300376, AJ300375, AJ300374, AJ300399, AJ300398, AJ300397, AJ300396, AJ300395, AJ300394, AJ300393, AJ300392, AJ300391, AJ300416, AJ300415, AJ300414, AJ300413, AJ300412, AJ300411, AJ300410, AJ300409, AJ300408, AJ300433, AJ300432, AJ300431, AJ300430, AJ300429, AJ300428, AJ300427, AJ300426, AJ300425, AJ300444, AJ300443, AJ300442, AJ300441, AJ300440, AJ300439, AJ300438, AJ300437, AJ300436, AJ300435, AJ300434, AJ300424, AJ300423, AJ300422, AJ300421, AJ300420, AJ300419, AJ300418, AJ300417, AJ300407, AJ300406, AJ300405, AJ300404, AJ300403, AJ300402, AJ300401, AJ300400, AJ300390, AJ300389, AJ300388, AJ300387, AJ300386, AJ300385, AJ300384, AJ300383, AJ300354, AJ300352, AJ300350, AJ300348, AJ300346, AJ300345, AJ300344 Genomic DNA. Translation: CAC18855.1.
AL365332
, AL356773, AL359924, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAH71369.1. Sequence problems.
AL445473
, AL356773, AL359924, AL365332, AL391809, AL442065, AL513130 Genomic DNA. Translation: CAH71393.1. Sequence problems.
AL356773
, AL359924, AL365332, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAH73918.1. Sequence problems.
AL391809
, AL356773, AL359924, AL365332, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAI14440.1. Sequence problems.
AL442065
, AL356773, AL359924, AL365332, AL391809, AL445473, AL513130 Genomic DNA. Translation: CAI15350.1. Sequence problems.
AL513130
, AL356773, AL359924, AL365332, AL391809, AL442065, AL445473 Genomic DNA. Translation: CAI15936.1. Sequence problems.
AL359924
, AL356773, AL365332, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAI22065.1. Sequence problems.
Y08218 mRNA. Translation: CAA69395.1.
X91869 mRNA. Translation: CAA62975.1.
AJ002511 mRNA. Translation: CAA05502.1.
CCDSiCCDS55691.1. [Q92736-1]
PIRiS72269.
RefSeqiNP_001026.2. NM_001035.2. [Q92736-1]
XP_006711868.1. XM_006711805.3. [Q92736-2]
UniGeneiHs.109514.
Hs.738571.

Genome annotation databases

EnsembliENST00000366574; ENSP00000355533; ENSG00000198626. [Q92736-1]
GeneIDi6262.
KEGGihsa:6262.
UCSCiuc001hyl.2. human. [Q92736-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Ryanodine receptor entry

Wikipedia

RYR2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98330 mRNA. Translation: CAA66975.1.
AJ300340
, AJ300341, AJ300342, AJ300343, AJ300347, AJ300349, AJ300351, AJ300353, AJ300355, AJ300364, AJ300363, AJ300362, AJ300361, AJ300360, AJ300359, AJ300358, AJ300357, AJ300356, AJ300373, AJ300372, AJ300371, AJ300370, AJ300369, AJ300368, AJ300367, AJ300366, AJ300365, AJ300382, AJ300381, AJ300380, AJ300379, AJ300378, AJ300377, AJ300376, AJ300375, AJ300374, AJ300399, AJ300398, AJ300397, AJ300396, AJ300395, AJ300394, AJ300393, AJ300392, AJ300391, AJ300416, AJ300415, AJ300414, AJ300413, AJ300412, AJ300411, AJ300410, AJ300409, AJ300408, AJ300433, AJ300432, AJ300431, AJ300430, AJ300429, AJ300428, AJ300427, AJ300426, AJ300425, AJ300444, AJ300443, AJ300442, AJ300441, AJ300440, AJ300439, AJ300438, AJ300437, AJ300436, AJ300435, AJ300434, AJ300424, AJ300423, AJ300422, AJ300421, AJ300420, AJ300419, AJ300418, AJ300417, AJ300407, AJ300406, AJ300405, AJ300404, AJ300403, AJ300402, AJ300401, AJ300400, AJ300390, AJ300389, AJ300388, AJ300387, AJ300386, AJ300385, AJ300384, AJ300383, AJ300354, AJ300352, AJ300350, AJ300348, AJ300346, AJ300345, AJ300344 Genomic DNA. Translation: CAC18855.1.
AL365332
, AL356773, AL359924, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAH71369.1. Sequence problems.
AL445473
, AL356773, AL359924, AL365332, AL391809, AL442065, AL513130 Genomic DNA. Translation: CAH71393.1. Sequence problems.
AL356773
, AL359924, AL365332, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAH73918.1. Sequence problems.
AL391809
, AL356773, AL359924, AL365332, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAI14440.1. Sequence problems.
AL442065
, AL356773, AL359924, AL365332, AL391809, AL445473, AL513130 Genomic DNA. Translation: CAI15350.1. Sequence problems.
AL513130
, AL356773, AL359924, AL365332, AL391809, AL442065, AL445473 Genomic DNA. Translation: CAI15936.1. Sequence problems.
AL359924
, AL356773, AL365332, AL391809, AL442065, AL445473, AL513130 Genomic DNA. Translation: CAI22065.1. Sequence problems.
Y08218 mRNA. Translation: CAA69395.1.
X91869 mRNA. Translation: CAA62975.1.
AJ002511 mRNA. Translation: CAA05502.1.
CCDSiCCDS55691.1. [Q92736-1]
PIRiS72269.
RefSeqiNP_001026.2. NM_001035.2. [Q92736-1]
XP_006711868.1. XM_006711805.3. [Q92736-2]
UniGeneiHs.109514.
Hs.738571.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JKQX-ray2.39A1-606[»]
ProteinModelPortaliQ92736.
SMRiQ92736.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112174. 25 interactors.
DIPiDIP-38325N.
IntActiQ92736. 10 interactors.
MINTiMINT-1201008.
STRINGi9606.ENSP00000355533.

Chemistry databases

DrugBankiDB09085. Tetracaine.
GuidetoPHARMACOLOGYi748.

Protein family/group databases

TCDBi1.A.3.1.1. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

PTM databases

iPTMnetiQ92736.
PhosphoSitePlusiQ92736.

Polymorphism and mutation databases

BioMutaiRYR2.
DMDMi308153558.

Proteomic databases

EPDiQ92736.
MaxQBiQ92736.
PaxDbiQ92736.
PeptideAtlasiQ92736.
PRIDEiQ92736.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366574; ENSP00000355533; ENSG00000198626. [Q92736-1]
GeneIDi6262.
KEGGihsa:6262.
UCSCiuc001hyl.2. human. [Q92736-1]

Organism-specific databases

CTDi6262.
DisGeNETi6262.
GeneCardsiRYR2.
GeneReviewsiRYR2.
HGNCiHGNC:10484. RYR2.
HPAiHPA020028.
MalaCardsiRYR2.
MIMi180902. gene.
600996. phenotype.
604772. phenotype.
neXtProtiNX_Q92736.
OpenTargetsiENSG00000198626.
Orphaneti3286. Catecholaminergic polymorphic ventricular tachycardia.
293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form.
293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form.
293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2243. Eukaryota.
ENOG410YCNW. LUCA.
GeneTreeiENSGT00760000119152.
HOGENOMiHOG000231428.
HOVERGENiHBG006699.
InParanoidiQ92736.
KOiK04962.
OMAiEHMPNDT.
OrthoDBiEOG091G00T0.
PhylomeDBiQ92736.
TreeFamiTF315244.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.
SIGNORiQ92736.

Miscellaneous databases

ChiTaRSiRYR2. human.
GeneWikiiRyanodine_receptor_2.
GenomeRNAii6262.
PROiPR:Q92736.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198626.
CleanExiHS_RYR2.
ExpressionAtlasiQ92736. baseline and differential.
GenevisibleiQ92736. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiView protein in InterPro
IPR011989. ARM-like.
IPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR014821. Ins145_P3_rcpt.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR013333. Ryan_recept.
IPR003032. Ryanodine_rcpt.
IPR015925. Ryanodine_recept-rel.
IPR009460. Ryanrecept_TM4-6.
IPR003877. SPRY_dom.
PANTHERiPTHR13715. PTHR13715. 1 hit.
PfamiView protein in Pfam
PF13833. EF-hand_8. 1 hit.
PF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF06459. RR_TM4-6. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
PF02026. RyR. 4 hits.
PF00622. SPRY. 3 hits.
PRINTSiPR00795. RYANODINER.
SMARTiView protein in SMART
SM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF47473. SSF47473. 1 hit.
SSF49899. SSF49899. 2 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiView protein in PROSITE
PS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiRYR2_HUMAN
AccessioniPrimary (citable) accession number: Q92736
Secondary accession number(s): Q15411, Q546N8, Q5T3P2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 5, 2010
Last modified: June 7, 2017
This is version 190 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.