UniProtKB - Q92736 (RYR2_HUMAN)
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Protein
Ryanodine receptor 2
Gene
RYR2
Organism
Homo sapiens (Human)
Status
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.3 Publications
Enzyme regulationi
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
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: UniProtKB
- 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
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
Keywordsi
Molecular function | Calcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
Reactomei | R-HSA-2672351. Stimuli-sensing channels. R-HSA-5578775. Ion homeostasis. |
SIGNORi | Q92736. |
Protein family/group databases
TCDBi | 1.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 2Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000198626.15. |
HGNCi | HGNC:10484. RYR2. |
MIMi | 180902. gene. |
neXtProti | NX_Q92736. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 4281 | CytoplasmicSequence analysisAdd BLAST | 4281 | |
Transmembranei | 4282 – 4302 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4504 – 4524 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4580 – 4600 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4730 – 4750 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 4769 – 4789 | HelicalSequence analysisAdd BLAST | 21 | |
Intramembranei | 4820 – 4829 | Pore-formingBy similarity | 10 | |
Transmembranei | 4850 – 4870 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 4871 – 4967 | CytoplasmicSequence analysisAdd BLAST | 97 |
Keywords - Cellular componenti
Membrane, Sarcoplasmic reticulumPathology & 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:600996Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)14 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:604772Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044086 | 164 | P → S in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044088 | 414 | R → L in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044089 | 419 | I → F in CPVT1; decreases protein stability. 3 Publications | 1 | |
Natural variantiVAR_044090 | 420 | R → W in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs190140598Ensembl. | 1 | |
Natural variantiVAR_079513 | 466 | P → A in CPVT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376612295Ensembl. | 1 | |
Natural variantiVAR_011396 | 2246 | S → L in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918597Ensembl. | 1 | |
Natural variantiVAR_023694 | 2306 | V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728746Ensembl. | 1 | |
Natural variantiVAR_044092 | 2311 | E → D in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728747Ensembl. | 1 | |
Natural variantiVAR_011397 | 2328 | P → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918603Ensembl. | 1 | |
Natural variantiVAR_044093 | 2387 | A → P in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044094 | 2392 | Y → C in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs772220753Ensembl. | 1 | |
Natural variantiVAR_044095 | 2403 | A → T in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_011399 | 2474 | R → S in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918598Ensembl. | 1 | |
Natural variantiVAR_044097 | 3778 | L → F in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_079514 | 3800 | C → F in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044098 | 3946 | G → S in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 PublicationsCorresponds to variant dbSNP:rs794728777Ensembl. | 1 | |
Natural variantiVAR_044099 | 4097 | N → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728784Ensembl. | 1 | |
Natural variantiVAR_011400 | 4104 | N → K in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918599Ensembl. | 1 | |
Natural variantiVAR_079515 | 4124 | S → T in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_044100 | 4146 | E → K in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044101 | 4158 | T → P in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_079516 | 4159 | Q → P in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_011401 | 4201 | Q → R in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918605Ensembl. | 1 | |
Natural variantiVAR_011402 | 4497 | R → C in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918600Ensembl. | 1 | |
Natural variantiVAR_044102 | 4499 | F → C in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044103 | 4504 | M → I in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044104 | 4510 | A → T in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs397516510Ensembl. | 1 | |
Natural variantiVAR_079517 | 4556 | A → T in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs189345192Ensembl. | 1 | |
Natural variantiVAR_044105 | 4607 | A → P in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_011403 | 4653 | V → F in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918604Ensembl. | 1 | |
Natural variantiVAR_044106 | 4671 | G → R in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044107 | 4771 | V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728804Ensembl. | 1 | |
Natural variantiVAR_044108 | 4848 | I → V in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044109 | 4860 | A → 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_044110 | 4867 | I → M in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044111 | 4880 | V → A in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044112 | 4895 | N → D in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_023695 | 4902 | P → L in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044113 | 4950 | E → K in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_023696 | 4959 | R → Q in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs794728811Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2808 | S → A: Abolishes phosphorylation by PKA. 1 Publication | 1 | |
Mutagenesisi | 3946 | G → A: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation. 1 Publication | 1 | |
Mutagenesisi | 3978 | M → I: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation. 1 Publication | 1 | |
Mutagenesisi | 4108 | H → N: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation. 1 Publication | 1 | |
Mutagenesisi | 4108 | H → Q: Changed ryanodine-sensitive calcium-release channel activity characterized by increased sensitivity to cytosolic calcium activation. 1 Publication | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease mutationOrganism-specific databases
DisGeNETi | 6262. |
GeneReviewsi | RYR2. |
MalaCardsi | RYR2. |
MIMi | 600996. phenotype. 604772. phenotype. |
OpenTargetsi | ENSG00000198626. |
Orphaneti | 3286. 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
ChEMBLi | CHEMBL4403. |
DrugBanki | DB09085. Tetracaine. |
GuidetoPHARMACOLOGYi | 748. |
Polymorphism and mutation databases
BioMutai | RYR2. |
DMDMi | 308153558. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219361 | 1 – 4967 | Ryanodine receptor 2Add BLAST | 4967 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1341 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1869 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2031 | Phosphoserine; by PKABy similarity | 1 | |
Modified residuei | 2369 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2697 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2797 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2808 | Phosphoserine; by CaMK2D and PKA2 Publications | 1 | |
Modified residuei | 2811 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2814 | Phosphoserine; by CaMK2D1 Publication | 1 | |
Modified residuei | 2947 | PhosphoserineBy similarity | 1 |
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
PhosphoproteinProteomic databases
MaxQBi | Q92736. |
PaxDbi | Q92736. |
PeptideAtlasi | Q92736. |
PRIDEi | Q92736. |
PTM databases
CarbonylDBi | Q92736. |
iPTMneti | Q92736. |
PhosphoSitePlusi | Q92736. |
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
Bgeei | ENSG00000198626. |
CleanExi | HS_RYR2. |
ExpressionAtlasi | Q92736. baseline and differential. |
Genevisiblei | Q92736. HS. |
Organism-specific databases
HPAi | HPA020028. |
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
GO - Molecular functioni
- calmodulin binding Source: UniProtKB
- 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
Protein-protein interaction databases
BioGridi | 112174. 27 interactors. |
DIPi | DIP-38325N. |
IntActi | Q92736. 12 interactors. |
MINTi | Q92736. |
STRINGi | 9606.ENSP00000355533. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 19 – 28 | Combined sources | 10 | |
Beta strandi | 31 – 38 | Combined sources | 8 | |
Beta strandi | 48 – 51 | Combined sources | 4 | |
Turni | 53 – 57 | Combined sources | 5 | |
Helixi | 63 – 65 | Combined sources | 3 | |
Beta strandi | 67 – 73 | Combined sources | 7 | |
Turni | 108 – 110 | Combined sources | 3 | |
Beta strandi | 118 – 127 | Combined sources | 10 | |
Beta strandi | 129 – 132 | Combined sources | 4 | |
Turni | 139 – 141 | Combined sources | 3 | |
Beta strandi | 145 – 151 | Combined sources | 7 | |
Beta strandi | 159 – 166 | Combined sources | 8 | |
Beta strandi | 180 – 185 | Combined sources | 6 | |
Turni | 186 – 188 | Combined sources | 3 | |
Beta strandi | 191 – 196 | Combined sources | 6 | |
Beta strandi | 198 – 208 | Combined sources | 11 | |
Beta strandi | 212 – 218 | Combined sources | 7 | |
Beta strandi | 233 – 238 | Combined sources | 6 | |
Turni | 239 – 242 | Combined sources | 4 | |
Beta strandi | 243 – 246 | Combined sources | 4 | |
Beta strandi | 250 – 252 | Combined sources | 3 | |
Helixi | 256 – 258 | Combined sources | 3 | |
Beta strandi | 261 – 263 | Combined sources | 3 | |
Helixi | 265 – 269 | Combined sources | 5 | |
Helixi | 271 – 273 | Combined sources | 3 | |
Beta strandi | 275 – 280 | Combined sources | 6 | |
Turni | 283 – 286 | Combined sources | 4 | |
Beta strandi | 295 – 299 | Combined sources | 5 | |
Turni | 300 – 302 | Combined sources | 3 | |
Beta strandi | 305 – 308 | Combined sources | 4 | |
Beta strandi | 310 – 312 | Combined sources | 3 | |
Beta strandi | 314 – 317 | Combined sources | 4 | |
Helixi | 319 – 321 | Combined sources | 3 | |
Helixi | 324 – 327 | Combined sources | 4 | |
Beta strandi | 329 – 336 | Combined sources | 8 | |
Beta strandi | 340 – 342 | Combined sources | 3 | |
Turni | 356 – 358 | Combined sources | 3 | |
Beta strandi | 360 – 365 | Combined sources | 6 | |
Turni | 366 – 368 | Combined sources | 3 | |
Beta strandi | 371 – 375 | Combined sources | 5 | |
Beta strandi | 388 – 396 | Combined sources | 9 | |
Beta strandi | 403 – 407 | Combined sources | 5 | |
Helixi | 410 – 437 | Combined sources | 28 | |
Helixi | 442 – 444 | Combined sources | 3 | |
Helixi | 449 – 462 | Combined sources | 14 | |
Helixi | 472 – 491 | Combined sources | 20 | |
Helixi | 494 – 506 | Combined sources | 13 | |
Beta strandi | 508 – 510 | Combined sources | 3 | |
Helixi | 511 – 518 | Combined sources | 8 | |
Helixi | 520 – 541 | Combined sources | 22 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4JKQ | X-ray | 2.39 | A | 1-606 | [»] | |
ProteinModelPortali | Q92736. | |||||
SMRi | Q92736. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 110 – 165 | MIR 1PROSITE-ProRule annotationAdd BLAST | 56 | |
Domaini | 172 – 217 | MIR 2PROSITE-ProRule annotationAdd BLAST | 46 | |
Domaini | 225 – 280 | MIR 3PROSITE-ProRule annotationAdd BLAST | 56 | |
Domaini | 286 – 343 | MIR 4PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 351 – 408 | MIR 5PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 599 – 809 | B30.2/SPRY 1PROSITE-ProRule annotationAdd BLAST | 211 | |
Repeati | 853 – 966 | 1Add BLAST | 114 | |
Repeati | 967 – 1080 | 2Add BLAST | 114 | |
Domaini | 1025 – 1222 | B30.2/SPRY 2PROSITE-ProRule annotationAdd BLAST | 198 | |
Domaini | 1337 – 1562 | B30.2/SPRY 3PROSITE-ProRule annotationAdd BLAST | 226 | |
Repeati | 2692 – 2810 | 3Add BLAST | 119 | |
Repeati | 2812 – 2925 | 4Add BLAST | 114 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 853 – 2925 | 4 X approximate repeatsAdd BLAST | 2073 | |
Regioni | 3581 – 3610 | Interaction with CALM1 PublicationAdd BLAST | 30 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 4412 – 4445 | Sequence analysisAdd BLAST | 34 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 4414 – 4455 | Glu-rich (acidic)Add BLAST | 42 |
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
Keywords - Domaini
Coiled coil, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2243. Eukaryota. ENOG410YCNW. LUCA. |
GeneTreei | ENSGT00760000119152. |
HOGENOMi | HOG000231428. |
HOVERGENi | HBG006699. |
InParanoidi | Q92736. |
KOi | K04962. |
OMAi | EHMPNDT. |
OrthoDBi | EOG091G00T0. |
PhylomeDBi | Q92736. |
TreeFami | TF315244. |
Family and domain databases
CDDi | cd12877. SPRY1_RyR. 1 hit. cd12878. SPRY2_RyR. 1 hit. cd12879. SPRY3_RyR. 1 hit. |
InterProi | View protein in InterPro IPR001870. B30.2/SPRY. IPR013320. ConA-like_dom_sf. IPR011992. EF-hand-dom_pair. IPR002048. EF_hand_dom. IPR014821. Ins145_P3_rcpt. IPR005821. Ion_trans_dom. IPR036300. MIR_dom_sf. IPR016093. MIR_motif. IPR013662. RIH_assoc-dom. IPR000699. RIH_dom. IPR013333. Ryan_recept. IPR003032. Ryanodine_rcpt. IPR015925. Ryanodine_recept-rel. IPR009460. Ryanrecept_TM4-6. IPR035910. RyR/IP3R_RIH_dom_sf. IPR035761. SPRY1_RyR. IPR035764. SPRY2_RyR. IPR035762. SPRY3_RyR. IPR003877. SPRY_dom. |
PANTHERi | PTHR13715. PTHR13715. 1 hit. |
Pfami | View 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. |
PRINTSi | PR00795. RYANODINER. |
SMARTi | View protein in SMART SM00472. MIR. 4 hits. SM00449. SPRY. 3 hits. |
SUPFAMi | SSF100909. SSF100909. 2 hits. SSF47473. SSF47473. 1 hit. SSF49899. SSF49899. 2 hits. SSF82109. SSF82109. 2 hits. |
PROSITEi | View protein in PROSITE PS50188. B302_SPRY. 3 hits. PS50919. MIR. 5 hits. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative 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.
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
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1037 | L → P in CAA66975 (PubMed:8809036).Curated | 1 | |
Sequence conflicti | 1037 | L → P in CAC18855 (PubMed:11159936).Curated | 1 | |
Sequence conflicti | 2785 – 2789 | WGWRI → RTMRT in CAA66975 (PubMed:8809036).Curated | 5 | |
Sequence conflicti | 2785 – 2789 | WGWRI → RTMRT in CAC18855 (PubMed:11159936).Curated | 5 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075283 | 29 | H → D Found in a patient with short-coupled polymorphic ventricular tachycardia at rest; unknown pathological significance; no effect on cytosolic Ca(2+) activation. 2 Publications | 1 | |
Natural variantiVAR_044086 | 164 | P → S in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044087 | 176 | R → Q in ARVD2 and CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs794728708Ensembl. | 1 | |
Natural variantiVAR_044088 | 414 | R → L in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044089 | 419 | I → F in CPVT1; decreases protein stability. 3 Publications | 1 | |
Natural variantiVAR_044090 | 420 | R → W in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs190140598Ensembl. | 1 | |
Natural variantiVAR_011395 | 433 | L → P in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918602Ensembl. | 1 | |
Natural variantiVAR_079513 | 466 | P → A in CPVT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376612295Ensembl. | 1 | |
Natural variantiVAR_044091 | 507 | V → I. Corresponds to variant dbSNP:rs16835270Ensembl. | 1 | |
Natural variantiVAR_022078 | 1886 | G → S. Corresponds to variant dbSNP:rs3766871Ensembl. | 1 | |
Natural variantiVAR_011396 | 2246 | S → L in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918597Ensembl. | 1 | |
Natural variantiVAR_023694 | 2306 | V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728746Ensembl. | 1 | |
Natural variantiVAR_044092 | 2311 | E → D in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728747Ensembl. | 1 | |
Natural variantiVAR_011397 | 2328 | P → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918603Ensembl. | 1 | |
Natural variantiVAR_011398 | 2386 | N → I in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918601Ensembl. | 1 | |
Natural variantiVAR_044093 | 2387 | A → P in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044094 | 2392 | Y → C in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs772220753Ensembl. | 1 | |
Natural variantiVAR_044095 | 2403 | A → T in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_011399 | 2474 | R → S in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918598Ensembl. | 1 | |
Natural variantiVAR_044096 | 2504 | T → M in ARVD2 and CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs769219555Ensembl. | 1 | |
Natural variantiVAR_011590 | 2958 | Q → R1 PublicationCorresponds to variant dbSNP:rs34967813Ensembl. | 1 | |
Natural variantiVAR_044097 | 3778 | L → F in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_079514 | 3800 | C → F in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044098 | 3946 | G → S in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 PublicationsCorresponds to variant dbSNP:rs794728777Ensembl. | 1 | |
Natural variantiVAR_044099 | 4097 | N → S in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728784Ensembl. | 1 | |
Natural variantiVAR_011400 | 4104 | N → K in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs121918599Ensembl. | 1 | |
Natural variantiVAR_079515 | 4124 | S → T in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_044100 | 4146 | E → K in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044101 | 4158 | T → P in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_079516 | 4159 | Q → P in CPVT1; changed ryanodine-sensitive calcium-release channel activity; increased sensitivity to cytosolic calcium activation. 2 Publications | 1 | |
Natural variantiVAR_011401 | 4201 | Q → R in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918605Ensembl. | 1 | |
Natural variantiVAR_011402 | 4497 | R → C in CPVT1. 3 PublicationsCorresponds to variant dbSNP:rs121918600Ensembl. | 1 | |
Natural variantiVAR_044102 | 4499 | F → C in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044103 | 4504 | M → I in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044104 | 4510 | A → T in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs397516510Ensembl. | 1 | |
Natural variantiVAR_079517 | 4556 | A → T in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs189345192Ensembl. | 1 | |
Natural variantiVAR_044105 | 4607 | A → P in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_011403 | 4653 | V → F in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs121918604Ensembl. | 1 | |
Natural variantiVAR_044106 | 4671 | G → R in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044107 | 4771 | V → I in CPVT1. 1 PublicationCorresponds to variant dbSNP:rs794728804Ensembl. | 1 | |
Natural variantiVAR_044108 | 4848 | I → V in CPVT1. 2 Publications | 1 | |
Natural variantiVAR_044109 | 4860 | A → 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_044110 | 4867 | I → M in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044111 | 4880 | V → A in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044112 | 4895 | N → D in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_023695 | 4902 | P → L in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_044113 | 4950 | E → K in CPVT1. 1 Publication | 1 | |
Natural variantiVAR_078648 | 4955 | G → E Probable disease-associated mutation found in a patient with intellectual disability, seizures, short stature and severe atrial arrhythmias. 1 Publication | 1 | |
Natural variantiVAR_023696 | 4959 | R → Q in CPVT1. 2 PublicationsCorresponds to variant dbSNP:rs794728811Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005953 | 3715 | E → EVTGSQRSK in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X98330 mRNA. Translation: CAA66975.1. AJ300340 AJ300344 Genomic DNA. Translation: CAC18855.1. AL365332 AL513130 Genomic DNA. Translation: CAH71369.1. Sequence problems. AL445473 AL513130 Genomic DNA. Translation: CAH71393.1. Sequence problems. AL356773 AL513130 Genomic DNA. Translation: CAH73918.1. Sequence problems. AL391809 AL513130 Genomic DNA. Translation: CAI14440.1. Sequence problems. AL442065 AL513130 Genomic DNA. Translation: CAI15350.1. Sequence problems. AL513130 AL445473 Genomic DNA. Translation: CAI15936.1. Sequence problems. AL359924 AL513130 Genomic DNA. Translation: CAI22065.1. Sequence problems. Y08218 mRNA. Translation: CAA69395.1. X91869 mRNA. Translation: CAA62975.1. AJ002511 mRNA. Translation: CAA05502.1. |
CCDSi | CCDS55691.1. [Q92736-1] |
PIRi | S72269. |
RefSeqi | NP_001026.2. NM_001035.2. [Q92736-1] XP_006711868.1. XM_006711805.3. [Q92736-2] |
UniGenei | Hs.109514. Hs.738571. |
Genome annotation databases
Ensembli | ENST00000366574; ENSP00000355533; ENSG00000198626. [Q92736-1] |
GeneIDi | 6262. |
KEGGi | hsa:6262. |
UCSCi | uc001hyl.2. human. [Q92736-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | RYR2_HUMAN | |
Accessioni | Q92736Primary (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: | March 28, 2018 | |
This is version 197 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |