Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q92736

- RYR2_HUMAN

UniProt

Q92736 - RYR2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Ryanodine receptor 2

Gene

RYR2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium channel activity Source: UniProtKB
  2. calcium-induced calcium release activity Source: BHF-UCL
  3. calcium ion binding Source: InterPro
  4. calcium-release channel activity Source: BHF-UCL
  5. calmodulin binding Source: BHF-UCL
  6. enzyme binding Source: BHF-UCL
  7. identical protein binding Source: BHF-UCL
  8. intracellular ligand-gated calcium channel activity Source: UniProtKB
  9. ion channel binding Source: BHF-UCL
  10. protein kinase A catalytic subunit binding Source: BHF-UCL
  11. protein kinase A regulatory subunit binding Source: BHF-UCL
  12. ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
  13. suramin binding Source: BHF-UCL

GO - Biological processi

  1. BMP signaling pathway Source: Ensembl
  2. calcium ion transport Source: BHF-UCL
  3. calcium ion transport into cytosol Source: BHF-UCL
  4. calcium-mediated signaling Source: UniProtKB
  5. calcium-mediated signaling using intracellular calcium source Source: BHF-UCL
  6. canonical Wnt signaling pathway Source: Ensembl
  7. cardiac muscle contraction Source: BHF-UCL
  8. cardiac muscle hypertrophy Source: BHF-UCL
  9. cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
  10. cellular calcium ion homeostasis Source: UniProtKB
  11. cellular response to caffeine Source: UniProtKB
  12. cellular response to epinephrine stimulus Source: BHF-UCL
  13. cytosolic calcium ion homeostasis Source: BHF-UCL
  14. detection of calcium ion Source: BHF-UCL
  15. embryonic heart tube morphogenesis Source: UniProtKB
  16. establishment of protein localization to endoplasmic reticulum Source: BHF-UCL
  17. ion transmembrane transport Source: Reactome
  18. left ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
  19. positive regulation of calcium-transporting ATPase activity Source: BHF-UCL
  20. positive regulation of heart rate Source: BHF-UCL
  21. positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction Source: BHF-UCL
  22. positive regulation of sequestering of calcium ion Source: BHF-UCL
  23. Purkinje myocyte to ventricular cardiac muscle cell signaling Source: BHF-UCL
  24. regulation of cardiac muscle contraction Source: BHF-UCL
  25. regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
  26. regulation of heart rate Source: BHF-UCL
  27. release of sequestered calcium ion into cytosol Source: BHF-UCL
  28. release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
  29. response to caffeine Source: BHF-UCL
  30. response to hypoxia Source: BHF-UCL
  31. response to redox state Source: BHF-UCL
  32. sarcoplasmic reticulum calcium ion transport Source: BHF-UCL
  33. transmembrane transport Source: Reactome
  34. type B pancreatic cell apoptotic process Source: BHF-UCL
  35. 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

ReactomeiREACT_160189. Stimuli-sensing channels.

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
ProteomesiUP000005640: 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
Note: The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.By similarity

GO - Cellular componenti

  1. calcium channel complex Source: BHF-UCL
  2. extracellular vesicular exosome Source: UniProt
  3. junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  4. membrane Source: BHF-UCL
  5. plasma membrane Source: BHF-UCL
  6. protein complex Source: MGI
  7. sarcoplasmic reticulum Source: BHF-UCL
  8. sarcoplasmic reticulum membrane Source: BHF-UCL
  9. smooth endoplasmic reticulum Source: Ensembl
  10. 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) [MIM:600996]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti176 – 1761R → Q in ARVD2 and CPVT1. 2 Publications
VAR_044087
Natural varianti433 – 4331L → P in ARVD2 and CPVT1. 2 Publications
VAR_011395
Natural varianti2386 – 23861N → I in ARVD2 and CPVT1. 2 Publications
VAR_011398
Natural varianti2504 – 25041T → M in ARVD2 and CPVT1. 2 Publications
VAR_044096
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti164 – 1641P → S in CPVT1. 1 Publication
VAR_044086
Natural varianti176 – 1761R → Q in ARVD2 and CPVT1. 2 Publications
VAR_044087
Natural varianti414 – 4141R → L in CPVT1. 1 Publication
VAR_044088
Natural varianti419 – 4191I → F in CPVT1. 1 Publication
VAR_044089
Natural varianti420 – 4201R → W in CPVT1. 2 Publications
Corresponds to variant rs190140598 [ dbSNP | Ensembl ].
VAR_044090
Natural varianti433 – 4331L → P in ARVD2 and CPVT1. 2 Publications
VAR_011395
Natural varianti2246 – 22461S → L in CPVT1. 3 Publications
VAR_011396
Natural varianti2306 – 23061V → I in CPVT1. 1 Publication
VAR_023694
Natural varianti2311 – 23111E → D in CPVT1. 1 Publication
VAR_044092
Natural varianti2328 – 23281P → S in CPVT1. 1 Publication
VAR_011397
Natural varianti2386 – 23861N → I in ARVD2 and CPVT1. 2 Publications
VAR_011398
Natural varianti2387 – 23871A → P in CPVT1. 1 Publication
VAR_044093
Natural varianti2392 – 23921Y → C in CPVT1. 1 Publication
VAR_044094
Natural varianti2403 – 24031A → T in CPVT1. 1 Publication
VAR_044095
Natural varianti2474 – 24741R → S in CPVT1. 2 Publications
VAR_011399
Natural varianti2504 – 25041T → M in ARVD2 and CPVT1. 2 Publications
VAR_044096
Natural varianti3778 – 37781L → F in CPVT1. 1 Publication
VAR_044097
Natural varianti3946 – 39461G → S in CPVT1. 1 Publication
VAR_044098
Natural varianti4097 – 40971N → S in CPVT1. 1 Publication
VAR_044099
Natural varianti4104 – 41041N → K in CPVT1. 2 Publications
VAR_011400
Natural varianti4146 – 41461E → K in CPVT1. 1 Publication
VAR_044100
Natural varianti4158 – 41581T → P in CPVT1. 1 Publication
VAR_044101
Natural varianti4201 – 42011Q → R in CPVT1. 1 Publication
VAR_011401
Natural varianti4497 – 44971R → C in CPVT1. 3 Publications
VAR_011402
Natural varianti4499 – 44991F → C in CPVT1. 1 Publication
VAR_044102
Natural varianti4504 – 45041M → I in CPVT1. 1 Publication
VAR_044103
Natural varianti4510 – 45101A → T in CPVT1. 1 Publication
VAR_044104
Natural varianti4607 – 46071A → P in CPVT1. 1 Publication
VAR_044105
Natural varianti4653 – 46531V → F in CPVT1. 1 Publication
VAR_011403
Natural varianti4671 – 46711G → R in CPVT1. 1 Publication
VAR_044106
Natural varianti4771 – 47711V → I in CPVT1. 1 Publication
VAR_044107
Natural varianti4848 – 48481I → V in CPVT1. 1 Publication
VAR_044108
Natural varianti4860 – 48601A → 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. 1 Publication
VAR_044109
Natural varianti4867 – 48671I → M in CPVT1. 1 Publication
VAR_044110
Natural varianti4880 – 48801V → A in CPVT1. 1 Publication
VAR_044111
Natural varianti4895 – 48951N → D in CPVT1. 1 Publication
VAR_044112
Natural varianti4902 – 49021P → L in CPVT1. 1 Publication
VAR_023695
Natural varianti4950 – 49501E → K in CPVT1. 1 Publication
VAR_044113
Natural varianti4959 – 49591R → Q in CPVT1. 1 Publication
VAR_023696

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi2808 – 28081S → A: Abolishes phosphorylation by PKA. 1 Publication

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi600996. phenotype.
604772. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 49674967Ryanodine receptor 2PRO_0000219361Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2031 – 20311Phosphoserine; by PKABy similarity
Modified residuei2808 – 28081Phosphoserine; by CaMK2D and PKA2 Publications
Modified residuei2814 – 28141Phosphoserine; by CaMK2D1 Publication

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

MaxQBiQ92736.
PaxDbiQ92736.
PRIDEiQ92736.

PTM databases

PhosphoSiteiQ92736.

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

BgeeiQ92736.
CleanExiHS_RYR2.
ExpressionAtlasiQ92736. baseline and differential.
GenevestigatoriQ92736.

Organism-specific databases

HPAiCAB006834.
HPA016697.
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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FKBP1BP681062EBI-1170425,EBI-6693977
MDM2Q009872EBI-1170425,EBI-389668

Protein-protein interaction databases

BioGridi112174. 25 interactions.
DIPiDIP-38325N.
IntActiQ92736. 9 interactions.
MINTiMINT-1201008.
STRINGi9606.ENSP00000355533.

Structurei

Secondary structure

1
4967
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi19 – 2810
Beta strandi31 – 388
Beta strandi48 – 514
Turni53 – 575
Helixi63 – 653
Beta strandi67 – 737
Turni108 – 1103
Beta strandi118 – 12710
Beta strandi129 – 1324
Turni139 – 1413
Beta strandi145 – 1517
Beta strandi159 – 1668
Beta strandi180 – 1856
Turni186 – 1883
Beta strandi191 – 1966
Beta strandi198 – 20811
Beta strandi212 – 2187
Beta strandi233 – 2386
Turni239 – 2424
Beta strandi243 – 2464
Beta strandi250 – 2523
Helixi256 – 2583
Beta strandi261 – 2633
Helixi265 – 2695
Helixi271 – 2733
Beta strandi275 – 2806
Turni283 – 2864
Beta strandi295 – 2995
Turni300 – 3023
Beta strandi305 – 3084
Beta strandi310 – 3123
Beta strandi314 – 3174
Helixi319 – 3213
Helixi324 – 3274
Beta strandi329 – 3368
Beta strandi340 – 3423
Turni356 – 3583
Beta strandi360 – 3656
Turni366 – 3683
Beta strandi371 – 3755
Beta strandi388 – 3969
Beta strandi403 – 4075
Helixi410 – 43728
Helixi442 – 4443
Helixi449 – 46214
Helixi472 – 49120
Helixi494 – 50613
Beta strandi508 – 5103
Helixi511 – 5188
Helixi520 – 54122

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4JKQX-ray2.39A1-606[»]
ProteinModelPortaliQ92736.
SMRiQ92736. Positions 10-544, 862-1068, 1082-1218, 2701-2905, 3581-3607, 4030-4086.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 42814281CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini4871 – 496797CytoplasmicSequence AnalysisAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei4820 – 482910Pore-formingBy similarity

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei4282 – 430221HelicalSequence AnalysisAdd
BLAST
Transmembranei4504 – 452421HelicalSequence AnalysisAdd
BLAST
Transmembranei4580 – 460021HelicalSequence AnalysisAdd
BLAST
Transmembranei4730 – 475021HelicalSequence AnalysisAdd
BLAST
Transmembranei4769 – 478921HelicalSequence AnalysisAdd
BLAST
Transmembranei4850 – 487021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini110 – 16556MIR 1PROSITE-ProRule annotationAdd
BLAST
Domaini172 – 21746MIR 2PROSITE-ProRule annotationAdd
BLAST
Domaini225 – 28056MIR 3PROSITE-ProRule annotationAdd
BLAST
Domaini286 – 34358MIR 4PROSITE-ProRule annotationAdd
BLAST
Domaini351 – 40858MIR 5PROSITE-ProRule annotationAdd
BLAST
Domaini599 – 809211B30.2/SPRY 1PROSITE-ProRule annotationAdd
BLAST
Repeati853 – 9661141Add
BLAST
Repeati967 – 10801142Add
BLAST
Domaini1025 – 1222198B30.2/SPRY 2PROSITE-ProRule annotationAdd
BLAST
Domaini1337 – 1562226B30.2/SPRY 3PROSITE-ProRule annotationAdd
BLAST
Repeati2692 – 28101193Add
BLAST
Repeati2812 – 29251144Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni853 – 292520734 X approximate repeatsAdd
BLAST
Regioni3581 – 361030Interaction with CALMAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili4412 – 444534Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4414 – 445542Glu-rich (acidic)Add
BLAST

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

eggNOGiNOG247670.
GeneTreeiENSGT00760000119152.
HOGENOMiHOG000231428.
HOVERGENiHBG006699.
InParanoidiQ92736.
KOiK04962.
OrthoDBiEOG71K622.
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. 1 hit.
PfamiPF08709. 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.
SMARTiSM00054. EFh. 2 hits.
SM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
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. Align

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 CAH71369.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAH71393.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAH73918.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI14440.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI15350.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI15936.1 differs from that shown. Reason: Erroneous gene model prediction.
The sequence CAI22065.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1037 – 10371L → P in CAA66975. (PubMed:8809036)Curated
Sequence conflicti1037 – 10371L → P in CAC18855. (PubMed:11159936)Curated
Sequence conflicti2785 – 27895WGWRI → RTMRT in CAA66975. (PubMed:8809036)Curated
Sequence conflicti2785 – 27895WGWRI → RTMRT in CAC18855. (PubMed:11159936)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti164 – 1641P → S in CPVT1. 1 Publication
VAR_044086
Natural varianti176 – 1761R → Q in ARVD2 and CPVT1. 2 Publications
VAR_044087
Natural varianti414 – 4141R → L in CPVT1. 1 Publication
VAR_044088
Natural varianti419 – 4191I → F in CPVT1. 1 Publication
VAR_044089
Natural varianti420 – 4201R → W in CPVT1. 2 Publications
Corresponds to variant rs190140598 [ dbSNP | Ensembl ].
VAR_044090
Natural varianti433 – 4331L → P in ARVD2 and CPVT1. 2 Publications
VAR_011395
Natural varianti507 – 5071V → I.
Corresponds to variant rs16835270 [ dbSNP | Ensembl ].
VAR_044091
Natural varianti1886 – 18861G → S.
Corresponds to variant rs3766871 [ dbSNP | Ensembl ].
VAR_022078
Natural varianti2246 – 22461S → L in CPVT1. 3 Publications
VAR_011396
Natural varianti2306 – 23061V → I in CPVT1. 1 Publication
VAR_023694
Natural varianti2311 – 23111E → D in CPVT1. 1 Publication
VAR_044092
Natural varianti2328 – 23281P → S in CPVT1. 1 Publication
VAR_011397
Natural varianti2386 – 23861N → I in ARVD2 and CPVT1. 2 Publications
VAR_011398
Natural varianti2387 – 23871A → P in CPVT1. 1 Publication
VAR_044093
Natural varianti2392 – 23921Y → C in CPVT1. 1 Publication
VAR_044094
Natural varianti2403 – 24031A → T in CPVT1. 1 Publication
VAR_044095
Natural varianti2474 – 24741R → S in CPVT1. 2 Publications
VAR_011399
Natural varianti2504 – 25041T → M in ARVD2 and CPVT1. 2 Publications
VAR_044096
Natural varianti2958 – 29581Q → R.1 Publication
Corresponds to variant rs34967813 [ dbSNP | Ensembl ].
VAR_011590
Natural varianti3778 – 37781L → F in CPVT1. 1 Publication
VAR_044097
Natural varianti3946 – 39461G → S in CPVT1. 1 Publication
VAR_044098
Natural varianti4097 – 40971N → S in CPVT1. 1 Publication
VAR_044099
Natural varianti4104 – 41041N → K in CPVT1. 2 Publications
VAR_011400
Natural varianti4146 – 41461E → K in CPVT1. 1 Publication
VAR_044100
Natural varianti4158 – 41581T → P in CPVT1. 1 Publication
VAR_044101
Natural varianti4201 – 42011Q → R in CPVT1. 1 Publication
VAR_011401
Natural varianti4497 – 44971R → C in CPVT1. 3 Publications
VAR_011402
Natural varianti4499 – 44991F → C in CPVT1. 1 Publication
VAR_044102
Natural varianti4504 – 45041M → I in CPVT1. 1 Publication
VAR_044103
Natural varianti4510 – 45101A → T in CPVT1. 1 Publication
VAR_044104
Natural varianti4607 – 46071A → P in CPVT1. 1 Publication
VAR_044105
Natural varianti4653 – 46531V → F in CPVT1. 1 Publication
VAR_011403
Natural varianti4671 – 46711G → R in CPVT1. 1 Publication
VAR_044106
Natural varianti4771 – 47711V → I in CPVT1. 1 Publication
VAR_044107
Natural varianti4848 – 48481I → V in CPVT1. 1 Publication
VAR_044108
Natural varianti4860 – 48601A → 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. 1 Publication
VAR_044109
Natural varianti4867 – 48671I → M in CPVT1. 1 Publication
VAR_044110
Natural varianti4880 – 48801V → A in CPVT1. 1 Publication
VAR_044111
Natural varianti4895 – 48951N → D in CPVT1. 1 Publication
VAR_044112
Natural varianti4902 – 49021P → L in CPVT1. 1 Publication
VAR_023695
Natural varianti4950 – 49501E → K in CPVT1. 1 Publication
VAR_044113
Natural varianti4959 – 49591R → Q in CPVT1. 1 Publication
VAR_023696

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei3715 – 37151E → EVTGSQRSK in isoform 2. CuratedVSP_005953

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006711805.1. [Q92736-2]
UniGeneiHs.109514.
Hs.738571.

Genome annotation databases

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

Polymorphism databases

DMDMi308153558.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Ryanodine receptor entry

Wikipedia

RYR2 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS55691.1. [Q92736-1 ]
PIRi S72269.
RefSeqi NP_001026.2. NM_001035.2. [Q92736-1 ]
XP_006711868.1. XM_006711805.1. [Q92736-2 ]
UniGenei Hs.109514.
Hs.738571.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4JKQ X-ray 2.39 A 1-606 [» ]
ProteinModelPortali Q92736.
SMRi Q92736. Positions 10-544, 862-1068, 1082-1218, 2701-2905, 3581-3607, 4030-4086.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112174. 25 interactions.
DIPi DIP-38325N.
IntActi Q92736. 9 interactions.
MINTi MINT-1201008.
STRINGi 9606.ENSP00000355533.

Chemistry

GuidetoPHARMACOLOGYi 748.

Protein family/group databases

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

PTM databases

PhosphoSitei Q92736.

Polymorphism databases

DMDMi 308153558.

Proteomic databases

MaxQBi Q92736.
PaxDbi Q92736.
PRIDEi Q92736.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000366574 ; ENSP00000355533 ; ENSG00000198626 . [Q92736-1 ]
GeneIDi 6262.
KEGGi hsa:6262.
UCSCi uc001hyl.1. human. [Q92736-1 ]

Organism-specific databases

CTDi 6262.
GeneCardsi GC01P237205.
GeneReviewsi RYR2.
HGNCi HGNC:10484. RYR2.
HPAi CAB006834.
HPA016697.
HPA020028.
MIMi 180902. gene.
600996. phenotype.
604772. phenotype.
neXtProti NX_Q92736.
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.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247670.
GeneTreei ENSGT00760000119152.
HOGENOMi HOG000231428.
HOVERGENi HBG006699.
InParanoidi Q92736.
KOi K04962.
OrthoDBi EOG71K622.
PhylomeDBi Q92736.
TreeFami TF315244.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi RYR2. human.
GeneWikii Ryanodine_receptor_2.
GenomeRNAii 6262.
NextBioi 24325.
PROi Q92736.
SOURCEi Search...

Gene expression databases

Bgeei Q92736.
CleanExi HS_RYR2.
ExpressionAtlasi Q92736. baseline and differential.
Genevestigatori Q92736.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
1.25.10.30. 1 hit.
InterProi 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.
[Graphical view ]
PANTHERi PTHR13715. PTHR13715. 1 hit.
Pfami 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 ]
PRINTSi PR00795. RYANODINER.
SMARTi SM00054. EFh. 2 hits.
SM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
[Graphical view ]
SUPFAMi SSF100909. SSF100909. 2 hits.
SSF49899. SSF49899. 2 hits.
SSF82109. SSF82109. 2 hits.
PROSITEi PS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis."
    Tunwell R.E.A., Wickenden C., Bertrand B.M.A., Shevchenko V.I., Walsh M.B., Allen P.D., Lai F.A.
    Biochem. J. 318:477-487(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
    Tissue: Heart muscle.
  2. "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)."
    Tiso N., Stephan D.A., Nava A., Bagattin A., Devaney J.M., Stanchi F., Larderet G., Brahmbhatt B., Brown K., Bauce B., Muriago M., Basso C., Thiene G., Danieli G.A., Rampazzo A.
    Hum. Mol. Genet. 10:189-194(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARVD2 GLN-176; PRO-433; ILE-2386 AND MET-2504.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium."
    Awad S.S., Lamb H.K., Morgan J.M., Dunlop W., Gillespie J.I.
    Biochem. J. 322:777-783(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-87 AND 533-681, DEVELOPMENTAL STAGE, INDUCTION BY TGFB1.
    Tissue: Heart muscle and Myometrium.
  5. "Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum."
    Martin C., Chapman K.E., Seckl J.R., Ashley R.H.
    Neuroscience 85:205-216(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4292-4479, TISSUE SPECIFICITY.
    Tissue: Cerebellum and Hippocampus.
  6. "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts."
    Marx S.O., Reiken S., Hisamatsu Y., Jayaraman T., Burkhoff D., Rosemblit N., Marks A.R.
    Cell 101:365-376(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH FKBP1B; PP1; PP2A AKAP6 AND PKA, INTERACTION WITH FKBP1B; PKA; PP1 AND PP2A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF SER-2808, PHOSPHORYLATION AT SER-2808.
  7. "S100A1 and calmodulin compete for the same binding site on ryanodine receptor."
    Wright N.T., Prosser B.L., Varney K.M., Zimmer D.B., Schneider M.F., Weber D.J.
    J. Biol. Chem. 283:26676-26683(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CALM AND S100A1.
  8. "CaMKII-dependent diastolic SR Ca2+ leak and elevated diastolic Ca2+ levels in right atrial myocardium of patients with atrial fibrillation."
    Neef S., Dybkova N., Sossalla S., Ort K.R., Fluschnik N., Neumann K., Seipelt R., Schondube F.A., Hasenfuss G., Maier L.S.
    Circ. Res. 106:1134-1144(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PHOSPHORYLATION AT SER-2808 AND SER-2814.
  9. "Cardiac excitation-contraction coupling."
    Bers D.M.
    Nature 415:198-205(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  10. "Cardiac ryanodine receptor phosphorylation by CaM Kinase II: keeping the balance right."
    Currie S.
    Front. Biosci. 14:5134-5156(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  11. "Modulation of ryanodine receptor Ca2+ channels."
    Ozawa T.
    Mol. Med. Report. 3:199-204(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  12. "Ryanodine receptors: structure, expression, molecular details, and function in calcium release."
    Lanner J.T., Georgiou D.K., Joshi A.D., Hamilton S.L.
    Cold Spring Harb. Perspect. Biol. 2:E3996-E3996(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  13. "Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia."
    Priori S.G., Napolitano C., Tiso N., Memmi M., Vignati G., Bloise R., Sorrentino V.V., Danieli G.A.
    Circulation 103:196-200(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VTSIP LEU-2246; SER-2474; LYS-4104 AND CYS-4497.
  14. "Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia."
    Laitinen P.J., Brown K.M., Piippo K., Swan H., Devaney J.M., Brahmbhatt B., Donarum E.A., Marino M., Tiso N., Viitasalo M., Toivonen L., Stephan D.A., Kontula K.
    Circulation 103:485-490(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 SER-2328; ARG-4201 AND PHE-4653, VARIANT ARG-2958.
  15. "Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia."
    Priori S.G., Napolitano C., Memmi M., Colombi B., Drago F., Gasparini M., DeSimone L., Coltorti F., Bloise R., Keegan R., Cruz Filho F.E.S., Vignati G., Benatar A., DeLogu A.
    Circulation 106:69-74(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 LEU-2246; ASP-2311; SER-2474; PHE-3778; SER-3946; SER-3946; LYS-4104; CYS-4497; ILE-4771; GLY-4860; MET-4867; ASP-4895 AND LYS-4950.
  16. "Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers."
    Bauce B., Rampazzo A., Basso C., Bagattin A., Daliento L., Tiso N., Turrini P., Thiene G., Danieli G.A., Nava A.
    J. Am. Coll. Cardiol. 40:341-349(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 GLN-176; TRP-420; PRO-433; ILE-2386; CYS-2392 AND MET-2504.
  17. "Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms."
    Laitinen P.J., Swan H., Kontula K.
    Eur. J. Hum. Genet. 11:888-891(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VTSIP ILE-2306; LEU-4902 AND GLN-4959.
  18. "Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes."
    Choi G., Kopplin L.J., Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.
    Circulation 110:2119-2124(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 SER-164; LEU-414; PHE-419; THR-2403; CYS-4499; THR-4510; ARG-4671 AND VAL-4848.
  19. "Gene symbol: RYR2. Disease: effort-induced polymorphic ventricular arrhythmias."
    Bagattin A., Veronese C., Rampazzo A., Danieli G.A.
    Hum. Genet. 114:404-404(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 ILE-4504 AND ALA-4880.
  20. "Gene symbol: RYR2. Disease: effort-induced polymorphic ventricular arrhythmias."
    Bagattin A., Veronese C., Rampazzo A., Danieli G.A.
    Hum. Genet. 114:405-405(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 PRO-2387 AND PRO-4607.
  21. "Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases."
    Tester D.J., Spoon D.B., Valdivia H.H., Makielski J.C., Ackerman M.J.
    Mayo Clin. Proc. 79:1380-1384(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPVT1 TRP-420; LEU-2246; SER-4097; LYS-4146; PRO-4158 AND CYS-4497.
  22. "Loss of luminal Ca(2+) activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death."
    Jiang D., Chen W., Wang R., Zhang L., Chen S.R.W.
    Proc. Natl. Acad. Sci. U.S.A. 104:18309-18314(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT CPVT1 GLY-4860.

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: October 29, 2014
This is version 162 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

External Data

Dasty 3