Q92736 (RYR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

RYR2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	4967 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.6 Ref.8
Subunit structure	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. Ref.6 Ref.7
Subcellular location	Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein Probable. Note: The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic By similarity. Ref.6
Tissue specificity	Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. Ref.5 Ref.6
Developmental stage	Expressed in myometrium during pregnancy. Ref.4
Induction	By TGFB1. Ref.4
Domain	The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm Probable.
Post-translational modification	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. Phosphorylation at Ser-2031 by PKA enhances the response to lumenal calcium By similarity.
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.15 Ref.16 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22
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.
Sequence similarities	Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. [View classification] Contains 3 B30.2/SPRY domains. Contains 5 MIR domains.
Sequence caution	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.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Membrane Sarcoplasmic reticulum
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy Disease mutation
Domain	Coiled coil Repeat Transmembrane Transmembrane helix
Ligand	Calcium Calmodulin-binding
Molecular function	Calcium channel Developmental protein Ion channel Ligand-gated ion channel Receptor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from electronic annotation. Source: Ensembl Purkinje myocyte to ventricular cardiac muscle cell signaling Inferred from sequence or structural similarity. Source: BHF-UCL calcium-mediated signaling using intracellular calcium source Inferred from direct assay PubMed 17921453. Source: BHF-UCL canonical Wnt signaling pathway Inferred from electronic annotation. Source: Ensembl cardiac muscle contraction Inferred from mutant phenotype Ref.6. Source: BHF-UCL cardiac muscle hypertrophy Inferred from sequence or structural similarity. Source: BHF-UCL cell communication by electrical coupling involved in cardiac conduction Inferred by curator. Source: BHF-UCL cellular response to caffeine Inferred from sequence or structural similarity. Source: UniProtKB cellular response to epinephrine stimulus Traceable author statement PubMed 23507255. Source: BHF-UCL detection of calcium ion Inferred from direct assay Ref.6. Source: BHF-UCL embryonic heart tube morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB establishment of protein localization to endoplasmic reticulum Inferred from direct assay PubMed 12443530. Source: BHF-UCL left ventricular cardiac muscle tissue morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of calcium-transporting ATPase activity Inferred from direct assay PubMed 12443530. Source: BHF-UCL positive regulation of heart rate Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of sequestering of calcium ion Inferred from direct assay PubMed 12443530PubMed 12919952. Source: BHF-UCL regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Inferred from sequence or structural similarity. Source: BHF-UCL regulation of ventricular cardiac muscle cell action potential Inferred from sequence or structural similarity. Source: BHF-UCL release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Inferred from mutant phenotype PubMed 12919952. Source: BHF-UCL response to hypoxia Inferred from sequence or structural similarity. Source: BHF-UCL response to redox state Inferred from direct assay PubMed 19226252. Source: BHF-UCL type B pancreatic cell apoptotic process Inferred from mutant phenotype PubMed 15044459. Source: BHF-UCL
Cellular_component	Z disc Inferred from sequence or structural similarity. Source: BHF-UCL calcium channel complex Inferred from direct assay Ref.6PubMed 16213210. Source: BHF-UCL junctional sarcoplasmic reticulum membrane Traceable author statement PubMed 17569730. Source: BHF-UCL plasma membrane Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro calcium-induced calcium release activity Inferred from direct assay PubMed 17921453. Source: BHF-UCL calmodulin binding Inferred from mutant phenotype PubMed 19220289. Source: BHF-UCL ion channel binding Inferred from sequence or structural similarity. Source: BHF-UCL protein kinase A catalytic subunit binding Inferred from direct assay Ref.6. Source: BHF-UCL protein kinase A regulatory subunit binding Inferred from direct assay Ref.6. Source: BHF-UCL ryanodine-sensitive calcium-release channel activity Inferred from direct assay PubMed 17921453. Source: BHF-UCL suramin binding Inferred from mutant phenotype PubMed 19220289. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FKBP1B	P68106	2	EBI-1170425,EBI-6693977
MDM2	Q00987	2	EBI-1170425,EBI-389668

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q92736-1)

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.

Isoform 2 (identifier: Q92736-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 4967	4967	Ryanodine receptor 2		PRO_0000219361
Regions
	Topological domain	1 – 4281	4281	Cytoplasmic Potential
	Transmembrane	4282 – 4302	21	Helical; Potential
	Transmembrane	4504 – 4524	21	Helical; Potential
	Transmembrane	4580 – 4600	21	Helical; Potential
	Transmembrane	4730 – 4750	21	Helical; Potential
	Transmembrane	4769 – 4789	21	Helical; Potential
	Intramembrane	4820 – 4829	10	Pore-forming; By similarity
	Transmembrane	4850 – 4870	21	Helical; Potential
	Topological domain	4871 – 4967	97	Cytoplasmic Potential
	Domain	110 – 165	56	MIR 1
	Domain	172 – 217	46	MIR 2
	Domain	225 – 280	56	MIR 3
	Domain	286 – 343	58	MIR 4
	Domain	351 – 408	58	MIR 5
	Domain	599 – 809	211	B30.2/SPRY 1
	Repeat	853 – 966	114	1
	Repeat	967 – 1080	114	2
	Domain	1025 – 1222	198	B30.2/SPRY 2
	Domain	1337 – 1562	226	B30.2/SPRY 3
	Repeat	2692 – 2810	119	3
	Repeat	2812 – 2925	114	4
	Region	853 – 2925	2073	4 X approximate repeats
	Region	3581 – 3610	30	Interaction with CALM
	Coiled coil	4412 – 4445	34	Potential
	Compositional bias	4414 – 4455	42	Glu-rich (acidic)
Amino acid modifications
	Modified residue	2031	1	Phosphoserine; by PKA By similarity
	Modified residue	2808	1	Phosphoserine; by CaMK2D and PKA Ref.6 Ref.8
	Modified residue	2814	1	Phosphoserine; by CaMK2D Ref.8
Natural variations
	Alternative sequence	3715	1	E → EVTGSQRSK in isoform 2.		VSP_005953
	Natural variant	164	1	P → S in CPVT1. Ref.18		VAR_044086
	Natural variant	176	1	R → Q in ARVD2 and CPVT1. Ref.2 Ref.16		VAR_044087
	Natural variant	414	1	R → L in CPVT1. Ref.18		VAR_044088
	Natural variant	419	1	I → F in CPVT1. Ref.18		VAR_044089
	Natural variant	420	1	R → W in CPVT1. Ref.16 Ref.21 Corresponds to variant rs190140598 [ dbSNP | Ensembl ].		VAR_044090
	Natural variant	433	1	L → P in ARVD2 and CPVT1. Ref.2 Ref.16		VAR_011395
	Natural variant	507	1	V → I. Corresponds to variant rs16835270 [ dbSNP | Ensembl ].		VAR_044091
	Natural variant	1886	1	G → S. Corresponds to variant rs3766871 [ dbSNP | Ensembl ].		VAR_022078
	Natural variant	2246	1	S → L in CPVT1. Ref.13 Ref.15 Ref.21		VAR_011396
	Natural variant	2306	1	V → I in CPVT1. Ref.17		VAR_023694
	Natural variant	2311	1	E → D in CPVT1. Ref.15		VAR_044092
	Natural variant	2328	1	P → S in CPVT1. Ref.14		VAR_011397
	Natural variant	2386	1	N → I in ARVD2 and CPVT1. Ref.2 Ref.16		VAR_011398
	Natural variant	2387	1	A → P in CPVT1. Ref.20		VAR_044093
	Natural variant	2392	1	Y → C in CPVT1. Ref.16		VAR_044094
	Natural variant	2403	1	A → T in CPVT1. Ref.18		VAR_044095
	Natural variant	2474	1	R → S in CPVT1. Ref.13 Ref.15		VAR_011399
	Natural variant	2504	1	T → M in ARVD2 and CPVT1. Ref.2 Ref.16		VAR_044096
	Natural variant	2958	1	Q → R. Ref.14 Corresponds to variant rs34967813 [ dbSNP | Ensembl ].		VAR_011590
	Natural variant	3778	1	L → F in CPVT1. Ref.15		VAR_044097
	Natural variant	3946	1	G → S in CPVT1. Ref.15		VAR_044098
	Natural variant	4097	1	N → S in CPVT1. Ref.21		VAR_044099
	Natural variant	4104	1	N → K in CPVT1. Ref.13 Ref.15		VAR_011400
	Natural variant	4146	1	E → K in CPVT1. Ref.21		VAR_044100
	Natural variant	4158	1	T → P in CPVT1. Ref.21		VAR_044101
	Natural variant	4201	1	Q → R in CPVT1. Ref.14		VAR_011401
	Natural variant	4497	1	R → C in CPVT1. Ref.13 Ref.15 Ref.21		VAR_011402
	Natural variant	4499	1	F → C in CPVT1. Ref.18		VAR_044102
	Natural variant	4504	1	M → I in CPVT1. Ref.19		VAR_044103
	Natural variant	4510	1	A → T in CPVT1. Ref.18		VAR_044104
	Natural variant	4607	1	A → P in CPVT1. Ref.20		VAR_044105
	Natural variant	4653	1	V → F in CPVT1. Ref.14		VAR_011403
	Natural variant	4671	1	G → R in CPVT1. Ref.18		VAR_044106
	Natural variant	4771	1	V → I in CPVT1. Ref.15		VAR_044107
	Natural variant	4848	1	I → V in CPVT1. Ref.18		VAR_044108
	Natural variant	4860	1	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. Ref.15 Ref.22		VAR_044109
	Natural variant	4867	1	I → M in CPVT1. Ref.15		VAR_044110
	Natural variant	4880	1	V → A in CPVT1. Ref.19		VAR_044111
	Natural variant	4895	1	N → D in CPVT1. Ref.15		VAR_044112
	Natural variant	4902	1	P → L in CPVT1. Ref.17		VAR_023695
	Natural variant	4950	1	E → K in CPVT1. Ref.15		VAR_044113
	Natural variant	4959	1	R → Q in CPVT1. Ref.17		VAR_023696
Experimental info
	Mutagenesis	2808	1	S → A: Abolishes phosphorylation by PKA. Ref.6
	Sequence conflict	1037	1	L → P in CAA66975. Ref.1
	Sequence conflict	1037	1	L → P in CAC18855. Ref.2
	Sequence conflict	2785 – 2789	5	WGWRI → RTMRT in CAA66975. Ref.1
	Sequence conflict	2785 – 2789	5	WGWRI → RTMRT in CAC18855. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 5, 2010. Version 3. Checksum: 44984485F8677B42	FASTA	4,967	564,567
	10 20 30 40 50 60 MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP 70 80 90 100 110 120 DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL 130 140 150 160 170 180 LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD 190 200 210 220 230 240 LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH 250 260 270 280 290 300 MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV 310 320 330 340 350 360 TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV 370 380 390 400 410 420 CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR 430 440 450 460 470 480 STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR 490 500 510 520 530 540 ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL 550 560 570 580 590 600 IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL 610 620 630 640 650 660 LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF 670 680 690 700 710 720 LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD 730 740 750 760 770 780 DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE 790 800 810 820 830 840 NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY 850 860 870 880 890 900 KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL 910 920 930 940 950 960 GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK 970 980 990 1000 1010 1020 VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI 1030 1040 1050 1060 1070 1080 QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG 1090 1100 1110 1120 1130 1140 TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF 1150 1160 1170 1180 1190 1200 KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG 1210 1220 1230 1240 1250 1260 FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ 1270 1280 1290 1300 1310 1320 VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG 1330 1340 1350 1360 1370 1380 GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK 1390 1400 1410 1420 1430 1440 PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN 1450 1460 1470 1480 1490 1500 VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR 1510 1520 1530 1540 1550 1560 NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI 1570 1580 1590 1600 1610 1620 KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ 1630 1640 1650 1660 1670 1680 CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV 1690 1700 1710 1720 1730 1740 DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP 1750 1760 1770 1780 1790 1800 DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK 1810 1820 1830 1840 1850 1860 EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE 1870 1880 1890 1900 1910 1920 SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH 1930 1940 1950 1960 1970 1980 RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK 1990 2000 2010 2020 2030 2040 DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK 2050 2060 2070 2080 2090 2100 KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR 2110 2120 2130 2140 2150 2160 ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN 2170 2180 2190 2200 2210 2220 LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY 2230 2240 2250 2260 2270 2280 LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML 2290 2300 2310 2320 2330 2340 VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG 2350 2360 2370 2380 2390 2400 NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG 2410 2420 2430 2440 2450 2460 RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF 2470 2480 2490 2500 2510 2520 CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL 2530 2540 2550 2560 2570 2580 CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL 2590 2600 2610 2620 2630 2640 RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL 2650 2660 2670 2680 2690 2700 SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN 2710 2720 2730 2740 2750 2760 FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY 2770 2780 2790 2800 2810 2820 KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG 2830 2840 2850 2860 2870 2880 YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK 2890 2900 2910 2920 2930 2940 EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI 2950 2960 2970 2980 2990 3000 LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE 3010 3020 3030 3040 3050 3060 KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF 3070 3080 3090 3100 3110 3120 LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED 3130 3140 3150 3160 3170 3180 LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI 3190 3200 3210 3220 3230 3240 YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP 3250 3260 3270 3280 3290 3300 MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA 3310 3320 3330 3340 3350 3360 VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT 3370 3380 3390 3400 3410 3420 TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV 3430 3440 3450 3460 3470 3480 VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI 3490 3500 3510 3520 3530 3540 CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD 3550 3560 3570 3580 3590 3600 TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV 3610 3620 3630 3640 3650 3660 ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR 3670 3680 3690 3700 3710 3720 VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME 3730 3740 3750 3760 3770 3780 KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY 3790 3800 3810 3820 3830 3840 LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSGEKVL QDDEFTCDLF 3850 3860 3870 3880 3890 3900 RFLQLLCEGH NSDFQNYLRT QTGNNTTVNI IISTVDYLLR VQESISDFYW YYSGKDVIDE 3910 3920 3930 3940 3950 3960 QGQRNFSKAI QVAKQVFNTL TEYIQGPCTG NQQSLAHSRL WDAVVGFLHV FAHMQMKLSQ 3970 3980 3990 4000 4010 4020 DSSQIELLKE LMDLQKDMVV MLLSMLEGNV VNGTIGKQMV DMLVESSNNV EMILKFFDMF 4030 4040 4050 4060 4070 4080 LKLKDLTSSD TFKEYDPDGK GVISKRDFHK AMESHKHYTQ SETEFLLSCA ETDENETLDY 4090 4100 4110 4120 4130 4140 EEFVKRFHEP AKDIGFNVAV LLTNLSEHMP NDTRLQTFLE LAESVLNYFQ PFLGRIEIMG 4150 4160 4170 4180 4190 4200 SAKRIERVYF EISESSRTQW EKPQVKESKR QFIFDVVNEG GEKEKMELFV NFCEDTIFEM 4210 4220 4230 4240 4250 4260 QLAAQISESD LNERSANKEE SEKERPEEQG PRMAFFSILT VRSALFALRY NILTLMRMLS 4270 4280 4290 4300 4310 4320 LKSLKKQMKK VKKMTVKDMV TAFFSSYWSI FMTLLHFVAS VFRGFFRIIC SLLLGGSLVE 4330 4340 4350 4360 4370 4380 GAKKIKVAEL LANMPDPTQD EVRGDGEEGE RKPLEAALPS EDLTDLKELT EESDLLSDIF 4390 4400 4410 4420 4430 4440 GLDLKREGGQ YKLIPHNPNA GLSDLMSNPV PMPEVQEKFQ EQKAKEEEKE EKEETKSEPE 4450 4460 4470 4480 4490 4500 KAEGEDGEKE EKAKEDKGKQ KLRQLHTHRY GEPEVPESAF WKKIIAYQQK LLNYFARNFY 4510 4520 4530 4540 4550 4560 NMRMLALFVA FAINFILLFY KVSTSSVVEG KELPTRSSSE NAKVTSLDSS SHRIIAVHYV 4570 4580 4590 4600 4610 4620 LEESSGYMEP TLRILAILHT VISFFCIIGY YCLKVPLVIF KREKEVARKL EFDGLYITEQ 4630 4640 4650 4660 4670 4680 PSEDDIKGQW DRLVINTQSF PNNYWDKFVK RKVMDKYGEF YGRDRISELL GMDKAALDFS 4690 4700 4710 4720 4730 4740 DAREKKKPKK DSSLSAVLNS IDVKYQMWKL GVVFTDNSFL YLAWYMTMSV LGHYNNFFFA 4750 4760 4770 4780 4790 4800 AHLLDIAMGF KTLRTILSSV THNGKQLVLT VGLLAVVVYL YTVVAFNFFR KFYNKSEDGD 4810 4820 4830 4840 4850 4860 TPDMKCDDML TCYMFHMYVG VRAGGGIGDE IEDPAGDEYE IYRIIFDITF FFFVIVILLA 4870 4880 4890 4900 4910 4920 IIQGLIIDAF GELRDQQEQV KEDMETKCFI CGIGNDYFDT VPHGFETHTL QEHNLANYLF 4930 4940 4950 4960 FLMYLINKDE TEHTGQESYV WKMYQERCWE FFPAGDCFRK QYEDQLN
	Isoform 2 [UniParc]. Checksum: C24909FF9BC665B6	FASTA	4,975	565,411
	10 20 30 40 50 60 MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP 70 80 90 100 110 120 DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL 130 140 150 160 170 180 LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD 190 200 210 220 230 240 LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH 250 260 270 280 290 300 MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV 310 320 330 340 350 360 TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV 370 380 390 400 410 420 CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR 430 440 450 460 470 480 STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR 490 500 510 520 530 540 ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL 550 560 570 580 590 600 IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL 610 620 630 640 650 660 LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF 670 680 690 700 710 720 LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD 730 740 750 760 770 780 DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE 790 800 810 820 830 840 NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY 850 860 870 880 890 900 KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL 910 920 930 940 950 960 GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK 970 980 990 1000 1010 1020 VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI 1030 1040 1050 1060 1070 1080 QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG 1090 1100 1110 1120 1130 1140 TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF 1150 1160 1170 1180 1190 1200 KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG 1210 1220 1230 1240 1250 1260 FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ 1270 1280 1290 1300 1310 1320 VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG 1330 1340 1350 1360 1370 1380 GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK 1390 1400 1410 1420 1430 1440 PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN 1450 1460 1470 1480 1490 1500 VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR 1510 1520 1530 1540 1550 1560 NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI 1570 1580 1590 1600 1610 1620 KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ 1630 1640 1650 1660 1670 1680 CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV 1690 1700 1710 1720 1730 1740 DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP 1750 1760 1770 1780 1790 1800 DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK 1810 1820 1830 1840 1850 1860 EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE 1870 1880 1890 1900 1910 1920 SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH 1930 1940 1950 1960 1970 1980 RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK 1990 2000 2010 2020 2030 2040 DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK 2050 2060 2070 2080 2090 2100 KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR 2110 2120 2130 2140 2150 2160 ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN 2170 2180 2190 2200 2210 2220 LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY 2230 2240 2250 2260 2270 2280 LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML 2290 2300 2310 2320 2330 2340 VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG 2350 2360 2370 2380 2390 2400 NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG 2410 2420 2430 2440 2450 2460 RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF 2470 2480 2490 2500 2510 2520 CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL 2530 2540 2550 2560 2570 2580 CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL 2590 2600 2610 2620 2630 2640 RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL 2650 2660 2670 2680 2690 2700 SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN 2710 2720 2730 2740 2750 2760 FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY 2770 2780 2790 2800 2810 2820 KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG 2830 2840 2850 2860 2870 2880 YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK 2890 2900 2910 2920 2930 2940 EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI 2950 2960 2970 2980 2990 3000 LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE 3010 3020 3030 3040 3050 3060 KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF 3070 3080 3090 3100 3110 3120 LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED 3130 3140 3150 3160 3170 3180 LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI 3190 3200 3210 3220 3230 3240 YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP 3250 3260 3270 3280 3290 3300 MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA 3310 3320 3330 3340 3350 3360 VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT 3370 3380 3390 3400 3410 3420 TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV 3430 3440 3450 3460 3470 3480 VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI 3490 3500 3510 3520 3530 3540 CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD 3550 3560 3570 3580 3590 3600 TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV 3610 3620 3630 3640 3650 3660 ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR 3670 3680 3690 3700 3710 3720 VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEVTGSQ 3730 3740 3750 3760 3770 3780 RSKEKEMEKQ KLLYQQARLH DRGAAEMVLQ TISASKGETG PMVAATLKLG IAILNGGNST 3790 3800 3810 3820 3830 3840 VQQKMLDYLK EKKDVGFFQS LAGLMQSCSV LDLNAFERQN KAEGLGMVTE EGSGEKVLQD 3850 3860 3870 3880 3890 3900 DEFTCDLFRF LQLLCEGHNS DFQNYLRTQT GNNTTVNIII STVDYLLRVQ ESISDFYWYY 3910 3920 3930 3940 3950 3960 SGKDVIDEQG QRNFSKAIQV AKQVFNTLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA 3970 3980 3990 4000 4010 4020 HMQMKLSQDS SQIELLKELM DLQKDMVVML LSMLEGNVVN GTIGKQMVDM LVESSNNVEM 4030 4040 4050 4060 4070 4080 ILKFFDMFLK LKDLTSSDTF KEYDPDGKGV ISKRDFHKAM ESHKHYTQSE TEFLLSCAET 4090 4100 4110 4120 4130 4140 DENETLDYEE FVKRFHEPAK DIGFNVAVLL TNLSEHMPND TRLQTFLELA ESVLNYFQPF 4150 4160 4170 4180 4190 4200 LGRIEIMGSA KRIERVYFEI SESSRTQWEK PQVKESKRQF IFDVVNEGGE KEKMELFVNF 4210 4220 4230 4240 4250 4260 CEDTIFEMQL AAQISESDLN ERSANKEESE KERPEEQGPR MAFFSILTVR SALFALRYNI 4270 4280 4290 4300 4310 4320 LTLMRMLSLK SLKKQMKKVK KMTVKDMVTA FFSSYWSIFM TLLHFVASVF RGFFRIICSL 4330 4340 4350 4360 4370 4380 LLGGSLVEGA KKIKVAELLA NMPDPTQDEV RGDGEEGERK PLEAALPSED LTDLKELTEE 4390 4400 4410 4420 4430 4440 SDLLSDIFGL DLKREGGQYK LIPHNPNAGL SDLMSNPVPM PEVQEKFQEQ KAKEEEKEEK 4450 4460 4470 4480 4490 4500 EETKSEPEKA EGEDGEKEEK AKEDKGKQKL RQLHTHRYGE PEVPESAFWK KIIAYQQKLL 4510 4520 4530 4540 4550 4560 NYFARNFYNM RMLALFVAFA INFILLFYKV STSSVVEGKE LPTRSSSENA KVTSLDSSSH 4570 4580 4590 4600 4610 4620 RIIAVHYVLE ESSGYMEPTL RILAILHTVI SFFCIIGYYC LKVPLVIFKR EKEVARKLEF 4630 4640 4650 4660 4670 4680 DGLYITEQPS EDDIKGQWDR LVINTQSFPN NYWDKFVKRK VMDKYGEFYG RDRISELLGM 4690 4700 4710 4720 4730 4740 DKAALDFSDA REKKKPKKDS SLSAVLNSID VKYQMWKLGV VFTDNSFLYL AWYMTMSVLG 4750 4760 4770 4780 4790 4800 HYNNFFFAAH LLDIAMGFKT LRTILSSVTH NGKQLVLTVG LLAVVVYLYT VVAFNFFRKF 4810 4820 4830 4840 4850 4860 YNKSEDGDTP DMKCDDMLTC YMFHMYVGVR AGGGIGDEIE DPAGDEYEIY RIIFDITFFF 4870 4880 4890 4900 4910 4920 FVIVILLAII QGLIIDAFGE LRDQQEQVKE DMETKCFICG IGNDYFDTVP HGFETHTLQE 4930 4940 4950 4960 4970 HNLANYLFFL MYLINKDETE HTGQESYVWK MYQERCWEFF PAGDCFRKQY EDQLN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Wikipedia

Ryanodine receptor entry

Wikipedia

RYR2 entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
PIR	S72269.
RefSeq	NP_001026.2. NM_001035.2.
UniGene	Hs.109514. Hs.738571.
3D structure databases
ProteinModelPortal	Q92736.
SMR	Q92736. Positions 12-545, 862-1068, 1082-1218, 2701-2905, 3581-3607, 4030-4086.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	112174. 25 interactions.
DIP	DIP-38325N.
IntAct	Q92736. 9 interactions.
MINT	MINT-1201008.
STRING	9606.ENSP00000355533.
Chemistry
GuidetoPHARMACOLOGY	748.
Protein family/group databases
TCDB	1.A.3.1.1. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.
PTM databases
PhosphoSite	Q92736.
Polymorphism databases
DMDM	308153558.
Proteomic databases
PaxDb	Q92736.
PRIDE	Q92736.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366574; ENSP00000355533; ENSG00000198626.
GeneID	6262.
KEGG	hsa:6262.
UCSC	uc001hyl.1. human.
Organism-specific databases
CTD	6262.
GeneCards	GC01P237205.
HGNC	HGNC:10484. RYR2.
HPA	CAB006834. HPA016697. HPA020028.
MIM	180902. gene. 600996. phenotype. 604772. phenotype.
neXtProt	NX_Q92736.
Orphanet	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.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG247670.
HOGENOM	HOG000231428.
HOVERGEN	HBG006699.
InParanoid	Q92736.
KO	K04962.
OrthoDB	EOG71K622.
TreeFam	TF315244.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q92736.
Bgee	Q92736.
CleanEx	HS_RYR2.
Genevestigator	Q92736.
Family and domain databases
Gene3D	1.10.238.10. 1 hit.
InterPro	IPR001870. B30.2/SPRY. IPR000699. Ca-rel_channel. IPR008985. ConA-like_lec_gl_sf. IPR011992. EF-hand-dom_pair. IPR002048. EF_hand_dom. IPR014821. Ins145_P3_rcpt. IPR005821. Ion_trans_dom. IPR016093. MIR_motif. IPR013662. RIH_assoc-dom. IPR013333. Ryan_recept. IPR003032. Ryanodine_rcpt. IPR015925. Ryanodine_recept-rel. IPR009460. Ryanrecept_TM4-6. IPR018355. SPla/RYanodine_receptor_subgr. IPR003877. SPRY_rcpt. [Graphical view]
PANTHER	PTHR13715. PTHR13715. 1 hit.
Pfam	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]
PRINTS	PR00795. RYANODINER.
SMART	SM00054. EFh. 2 hits. SM00472. MIR. 4 hits. SM00449. SPRY. 3 hits. [Graphical view]
SUPFAM	SSF49899. SSF49899. 2 hits. SSF82109. SSF82109. 2 hits.
PROSITE	PS50188. B302_SPRY. 3 hits. PS50919. MIR. 5 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RYR2. human.
GeneWiki	Ryanodine_receptor_2.
GenomeRNAi	6262.
NextBio	24325.
PRO	Q92736.
SOURCE	Search...

Entry information

Entry name

RYR2_HUMAN

Accession

Primary (citable) accession number: Q92736
Secondary accession number(s): Q15411, Q546N8, Q5T3P2

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	October 5, 2010
Last modified:	February 19, 2014
This is version 154 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.