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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

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: UniProtKB
  • 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
  • ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  • suramin binding Source: BHF-UCL

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: UniProtKB
  • 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...

Keywords - Molecular functioni

Calcium channel, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Calmodulin-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32043-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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
  • sarcolemma Source: GO_Central
  • sarcoplasmic reticulum Source: BHF-UCL
  • sarcoplasmic reticulum membrane Source: BHF-UCL
  • smooth endoplasmic reticulum Source: GO_Central
  • 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 rs794728708dbSNPEnsembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918602dbSNPEnsembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918601dbSNPEnsembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs769219555dbSNPEnsembl.1
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)7 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.
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 rs794728708dbSNPEnsembl.1
Natural variantiVAR_044088414R → L in CPVT1. 1 Publication1
Natural variantiVAR_044089419I → F in CPVT1. 1 Publication1
Natural variantiVAR_044090420R → W in CPVT1. 2 PublicationsCorresponds to variant rs190140598dbSNPEnsembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918602dbSNPEnsembl.1
Natural variantiVAR_0113962246S → L in CPVT1. 3 PublicationsCorresponds to variant rs121918597dbSNPEnsembl.1
Natural variantiVAR_0236942306V → I in CPVT1. 1 PublicationCorresponds to variant rs794728746dbSNPEnsembl.1
Natural variantiVAR_0440922311E → D in CPVT1. 1 PublicationCorresponds to variant rs794728747dbSNPEnsembl.1
Natural variantiVAR_0113972328P → S in CPVT1. 1 PublicationCorresponds to variant rs121918603dbSNPEnsembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918601dbSNPEnsembl.1
Natural variantiVAR_0440932387A → P in CPVT1. 1 Publication1
Natural variantiVAR_0440942392Y → C in CPVT1. 1 PublicationCorresponds to variant rs772220753dbSNPEnsembl.1
Natural variantiVAR_0440952403A → T in CPVT1. 1 Publication1
Natural variantiVAR_0113992474R → S in CPVT1. 2 PublicationsCorresponds to variant rs121918598dbSNPEnsembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs769219555dbSNPEnsembl.1
Natural variantiVAR_0440973778L → F in CPVT1. 1 Publication1
Natural variantiVAR_0440983946G → S in CPVT1. 1 PublicationCorresponds to variant rs794728777dbSNPEnsembl.1
Natural variantiVAR_0440994097N → S in CPVT1. 1 PublicationCorresponds to variant rs794728784dbSNPEnsembl.1
Natural variantiVAR_0114004104N → K in CPVT1. 2 PublicationsCorresponds to variant rs121918599dbSNPEnsembl.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 rs121918605dbSNPEnsembl.1
Natural variantiVAR_0114024497R → C in CPVT1. 3 PublicationsCorresponds to variant rs121918600dbSNPEnsembl.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 rs397516510dbSNPEnsembl.1
Natural variantiVAR_0441054607A → P in CPVT1. 1 Publication1
Natural variantiVAR_0114034653V → F in CPVT1. 1 PublicationCorresponds to variant rs121918604dbSNPEnsembl.1
Natural variantiVAR_0441064671G → R in CPVT1. 1 Publication1
Natural variantiVAR_0441074771V → I in CPVT1. 1 PublicationCorresponds to variant rs794728804dbSNPEnsembl.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 rs121918606dbSNPEnsembl.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 rs794728811dbSNPEnsembl.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

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 SEPN1 (By similarity).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FKBP1AP629422EBI-1170425,EBI-1027571
FKBP1BP681065EBI-1170425,EBI-6693977
MDM2Q009872EBI-1170425,EBI-389668

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-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

Contains 3 B30.2/SPRY domains.PROSITE-ProRule annotation
Contains 5 MIR domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.25.10.30. 1 hit.
InterProiIPR001870. 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.
[Graphical view]
PANTHERiPTHR13715. PTHR13715. 5 hits.
PfamiPF13833. 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.
[Graphical view]
PRINTSiPR00795. RYANODINER.
SMARTiSM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF47473. SSF47473. 1 hit.
SSF49899. SSF49899. 2 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiPS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.
[Graphical view]

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 rs794728708dbSNPEnsembl.1
Natural variantiVAR_044088414R → L in CPVT1. 1 Publication1
Natural variantiVAR_044089419I → F in CPVT1. 1 Publication1
Natural variantiVAR_044090420R → W in CPVT1. 2 PublicationsCorresponds to variant rs190140598dbSNPEnsembl.1
Natural variantiVAR_011395433L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918602dbSNPEnsembl.1
Natural variantiVAR_044091507V → I.Corresponds to variant rs16835270dbSNPEnsembl.1
Natural variantiVAR_0220781886G → S.Corresponds to variant rs3766871dbSNPEnsembl.1
Natural variantiVAR_0113962246S → L in CPVT1. 3 PublicationsCorresponds to variant rs121918597dbSNPEnsembl.1
Natural variantiVAR_0236942306V → I in CPVT1. 1 PublicationCorresponds to variant rs794728746dbSNPEnsembl.1
Natural variantiVAR_0440922311E → D in CPVT1. 1 PublicationCorresponds to variant rs794728747dbSNPEnsembl.1
Natural variantiVAR_0113972328P → S in CPVT1. 1 PublicationCorresponds to variant rs121918603dbSNPEnsembl.1
Natural variantiVAR_0113982386N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs121918601dbSNPEnsembl.1
Natural variantiVAR_0440932387A → P in CPVT1. 1 Publication1
Natural variantiVAR_0440942392Y → C in CPVT1. 1 PublicationCorresponds to variant rs772220753dbSNPEnsembl.1
Natural variantiVAR_0440952403A → T in CPVT1. 1 Publication1
Natural variantiVAR_0113992474R → S in CPVT1. 2 PublicationsCorresponds to variant rs121918598dbSNPEnsembl.1
Natural variantiVAR_0440962504T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant rs769219555dbSNPEnsembl.1
Natural variantiVAR_0115902958Q → R.1 PublicationCorresponds to variant rs34967813dbSNPEnsembl.1
Natural variantiVAR_0440973778L → F in CPVT1. 1 Publication1
Natural variantiVAR_0440983946G → S in CPVT1. 1 PublicationCorresponds to variant rs794728777dbSNPEnsembl.1
Natural variantiVAR_0440994097N → S in CPVT1. 1 PublicationCorresponds to variant rs794728784dbSNPEnsembl.1
Natural variantiVAR_0114004104N → K in CPVT1. 2 PublicationsCorresponds to variant rs121918599dbSNPEnsembl.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 rs121918605dbSNPEnsembl.1
Natural variantiVAR_0114024497R → C in CPVT1. 3 PublicationsCorresponds to variant rs121918600dbSNPEnsembl.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 rs397516510dbSNPEnsembl.1
Natural variantiVAR_0441054607A → P in CPVT1. 1 Publication1
Natural variantiVAR_0114034653V → F in CPVT1. 1 PublicationCorresponds to variant rs121918604dbSNPEnsembl.1
Natural variantiVAR_0441064671G → R in CPVT1. 1 Publication1
Natural variantiVAR_0441074771V → I in CPVT1. 1 PublicationCorresponds to variant rs794728804dbSNPEnsembl.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 rs121918606dbSNPEnsembl.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 rs794728811dbSNPEnsembl.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

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.
OMAiRWWEHGP.
OrthoDBiEOG091G00T0.
PhylomeDBiQ92736.
TreeFamiTF315244.

Enzyme and pathway databases

BioCyciZFISH:G66-32043-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.
SIGNORiQ92736.

Miscellaneous databases

ChiTaRSiRYR2. human.
GeneWikiiRyanodine_receptor_2.
GenomeRNAii6262.
PROiQ92736.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.25.10.30. 1 hit.
InterProiIPR001870. 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.
[Graphical view]
PANTHERiPTHR13715. PTHR13715. 5 hits.
PfamiPF13833. 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.
[Graphical view]
PRINTSiPR00795. RYANODINER.
SMARTiSM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF47473. SSF47473. 1 hit.
SSF49899. SSF49899. 2 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiPS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRYR2_HUMAN
AccessioniPrimary (citable) accession number: Q92736
Secondary accession number(s): Q15411, Q546N8, Q5T3P2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: October 5, 2010
Last modified: November 2, 2016
This is version 185 of the entry and version 3 of the sequence. [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

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

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.