T3DB: Ryanodine receptor 2

Name	Ryanodine receptor 2
Synonyms	Cardiac muscle ryanodine receptor Cardiac muscle ryanodine receptor-calcium release channel RYR-2 Type 2 ryanodine receptor
Gene Name	RYR2
Organism	Human
Amino acid sequence	>lcl\|BSEQ0009057\|Ryanodine receptor 2 MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN
Number of residues	4967
Molecular Weight	564562.71
Theoretical pI	Not Available
GO Classification	Functions calcium-induced calcium release activity calmodulin binding calcium-release channel activity protein kinase A regulatory subunit binding suramin binding calcium ion binding intracellular ligand-gated calcium channel activity ion channel binding ryanodine-sensitive calcium-release channel activity calcium channel activity enzyme binding protein kinase A catalytic subunit binding identical protein binding Processes response to hypoxia calcium ion transport into cytosol response to muscle stretch calcium ion transport release of sequestered calcium ion into cytosol cytosolic calcium ion homeostasis regulation of cardiac muscle contraction calcium-mediated signaling canonical Wnt signaling pathway cellular calcium ion homeostasis cellular response to caffeine positive regulation of sequestering of calcium ion cell communication by electrical coupling involved in cardiac conduction positive regulation of heart rate cellular response to epinephrine stimulus positive regulation of the force of heart contraction calcium-mediated signaling using intracellular calcium source establishment of protein localization to endoplasmic reticulum Purkinje myocyte to ventricular cardiac muscle cell signaling left ventricular cardiac muscle tissue morphogenesis regulation of atrial cardiac muscle cell action potential cardiac muscle hypertrophy regulation of AV node cell action potential response to muscle activity cardiac muscle contraction regulation of cardiac muscle contraction by calcium ion signaling detection of calcium ion regulation of heart rate regulation of SA node cell action potential ventricular cardiac muscle cell action potential BMP signaling pathway regulation of ventricular cardiac muscle cell action potential embryonic heart tube morphogenesis release of sequestered calcium ion into cytosol by sarcoplasmic reticulum sarcoplasmic reticulum calcium ion transport transmembrane transport regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion response to caffeine type B pancreatic cell apoptotic process positive regulation of calcium-transporting ATPase activity response to redox state ion transmembrane transport Components smooth endoplasmic reticulum membrane protein complex plasma membrane Z disc cytosol sarcoplasmic reticulum membrane extracellular exosome calcium channel complex sarcoplasmic reticulum junctional sarcoplasmic reticulum membrane
General Function	Suramin binding
Specific Function	Calcium channel that mediates the release of Ca(2+) 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 Ca(2+) 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.
Pfam Domain Function	Ion_trans (PF00520 ) MIR (PF02815 ) RIH_assoc (PF08454 ) RR_TM4-6 (PF06459 ) RYDR_ITPR (PF01365 ) RyR (PF02026 ) SPRY (PF00622 ) EF-hand_8 (PF13833 ) Ins145_P3_rec (PF08709 )
Transmembrane Regions	4282-4302 4504-4524 4580-4600 4730-4750 4769-4789 4850-4870
GenBank Protein ID	Not Available
UniProtKB ID	Q92736
UniProtKB Entry Name	RYR2_HUMAN
Cellular Location	Sarcoplasmic reticulum membrane
Gene sequence	>lcl\|BSEQ0013589\|Ryanodine receptor 2 (RYR2) ATGGCCGATGGGGGCGAGGGCGAAGACGAGATCCAGTTCCTGCGAACTGATGATGAAGTG GTTCTGCAGTGCACCGCAACCATCCACAAAGAACAACAGAAGCTATGCTTGGCAGCAGAA GGATTTGGCAACAGACTTTGTTTCTTGGAGTCCACTTCCAATTCCAAGAATGTGCCCCCA GACCTCTCCATCTGCACCTTTGTGCTGGAGCAGTCCCTCTCTGTCCGGGCGCTGCAGGAG ATGCTGGCTAACACCGTGGAGAAATCAGAAGGGCAAGTTGATGTGGAAAAATGGAAATTC ATGATGAAGACTGCTCAAGGTGGTGGTCATCGAACACTCCTCTACGGACATGCCATATTG CTGCGCCATTCCTATAGTGGCATGTATCTGTGCTGCCTGTCCACCTCCCGGTCTTCAACT GATAAGCTGGCTTTTGATGTTGGCTTGCAAGAGGACACCACAGGGGAGGCTTGTTGGTGG ACCATACACCCTGCCTCTAAGCAGCGATCAGAAGGAGAAAAAGTACGAGTTGGAGATGAC CTCATCTTAGTTAGCGTGTCCTCTGAAAGGTACTTGCACTTGTCTTATGGCAACGGCAGC TTACACGTGGATGCCGCTTTCCAGCAGACTCTCTGGAGCGTGGCCCCAATCAGCTCAGGA AGTGAGGCAGCCCAAGGGTATCTCATTGGTGGTGATGTCCTCAGGTTGCTGCATGGACAC ATGGACGAGTGTCTCACTGTCCCTTCAGGAGAACATGGTGAAGAGCAGCGGAGAACTGTT CATTATGAAGGTGGCGCTGTGTCTGTTCATGCACGTTCCCTTTGGAGACTAGAGACGCTA AGAGTTGCGTGGAGTGGAAGCCACATAAGATGGGGACAGCCATTCCGACTACGCCATGTC ACAACAGGAAAATACTTGAGTCTCATGGAAGACAAAAACCTTCTACTCATGGACAAAGAG AAAGCTGATGTAAAATCAACAGCATTTACCTTCCGGTCTTCCAAGGAAAAATTGGATGTA GGGGTGAGAAAAGAAGTAGATGGCATGGGAACATCTGAAATAAAATACGGTGACTCAGTA TGCTATATACAACATGTAGACACAGGCCTATGGCTTACTTACCAGTCTGTGGACGTGAAA TCCGTGAGAATGGGATCTATACAACGTAAGGCTATTATGCATCATGAAGGCCACATGGAT GATGGCATAAGTTTGTCGAGATCCCAGCATGAAGAATCACGCACAGCCCGAGTTATCCGG AGCACAGTCTTCCTTTTCAATAGATTTATAAGGGGCCTTGATGCTCTCAGCAAGAAAGCG AAGGCTTCCACAGTCGATTTGCCTATAGAGTCCGTAAGCCTAAGTCTGCAGGATCTCATT GGCTACTTCCACCCCCCAGATGAGCATTTAGAGCATGAAGACAAACAGAACAGACTACGA GCCCTGAAGAATCGGCAAAATCTCTTCCAGGAAGAGGGAATGATCAACCTCGTGCTTGAG TGCATAGACCGTTTGCACGTCTACAGCAGTGCAGCACACTTTGCTGATGTTGCTGGGCGA GAAGCAGGAGAGTCTTGGAAATCCATTCTGAATTCTCTGTATGAGTTGCTGGCGGCTCTA ATTAGAGGAAATCGTAAAAACTGTGCTCAATTTTCTGGCTCCCTCGACTGGTTGATCAGC AGATTGGAAAGACTGGAAGCTTCTTCAGGCATTCTGGAAGTTTTACACTGTGTTTTAGTA GAAAGTCCAGAAGCTCTAAATATTATTAAAGAAGGACATATTAAATCTATTATCTCACTT TTAGACAAACATGGAAGAAATCACAAGGTTCTGGATGTCTTGTGCTCACTCTGTGTTTGC CACGGGGTTGCAGTCCGTTCTAACCAGCATCTCATCTGTGACAATCTCCTACCAGGAAGA GACTTGTTATTGCAGACACGTCTTGTGAACCATGTCAGCAGCATGAGACCCAATATTTTT CTGGGCGTCAGTGAAGGTTCTGCTCAGTATAAGAAATGGTACTATGAATTGATGGTGGAC CACACAGAGCCCTTTGTGACAGCTGAAGCAACTCACCTGCGAGTGGGCTGGGCTTCCACT GAAGGATATTCTCCCTACCCTGGAGGGGGCGAAGAGTGGGGTGGAAATGGTGTTGGAGAT GATCTCTTCTCCTATGGATTTGATGGCCTTCATCTCTGGTCAGGTTGTATTGCTCGTACT GTAAGCTCACCAAACCAACATCTGTTAAGAACTGATGATGTCATCAGTTGCTGTTTAGAT CTGAGTGCCCCAAGCATCTCGTTCCGAATTAATGGACAACCTGTTCAAGGAATGTTTGAG AATTTCAACATCGATGGCCTCTTCTTTCCAGTCGTTAGTTTCTCTGCAGGAATAAAAGTA CGCTTTCTGCTTGGAGGGCGACATGGAGAATTCAAATTTCTTCCTCCACCTGGGTATGCT CCTTGTTATGAAGCTGTTCTGCCAAAAGAAAAGTTGAAAGTGGAACACAGCCGAGAGTAC AAGCAAGAAAGAACTTACACACGCGACCTGCTGGGCCCCACAGTTTCCCTGACGCAAGCT GCCTTCACACCCATCCCTGTGGATACCAGCCAGATCGTGTTGCCTCCTCATCTAGAAAGA ATAAGAGAAAAACTGGCAGAGAATATCCATGAACTCTGGGTTATGAATAAAATTGAGCTT GGCTGGCAGTATGGTCCGGTTAGAGATGACAACAAGAGACAACACCCATGCCTGGTGGAG TTCTCCAAGCTGCCTGAACAGGAGCGCAATTACAACTTACAAATGTCGCTTGAGACCCTG AAGACTTTGTTGGCATTAGGATGTCATGTGGGTATATCAGATGAACATGCTGAAGACAAG GTGAAAAAAATGAAGCTACCCAAGAATTACCAGCTGACAAGTGGATACAAGCCTGCCCCT ATGGACCTGAGCTTTATCAAACTCACCCCATCACAAGAAGCAATGGTGGACAAGTTGGCA GAAAATGCACATAATGTGTGGGCGCGGGATCGAATCCGGCAGGGCTGGACTTATGGCATC CAACAGGACGTAAAGAACAGAAGAAATCCTCGCCTTGTTCCCTACACTCTTCTGGATGAC CGAACCAAGAAATCCAACAAGGACAGCCTCCGCGAGGCTGTGCGCACGCTGCTGGGGTAC GGCTACAACTTGGAAGCACCAGATCAAGATCATGCAGCCAGAGCCGAAGTGTGCAGCGGC ACCGGGGAAAGGTTCCGAATCTTCCGTGCCGAGAAGACCTATGCAGTGAAGGCCGGACGG TGGTATTTTGAATTTGAGACGGTCACTGCTGGAGACATGAGGGTTGGTTGGAGTCGTCCT GGTTGTCAACCGGATCAGGAGCTTGGCTCAGATGAACGTGCCTTTGCCTTTGATGGCTTC AAGGCCCAGCGGTGGCATCAGGGCAATGAACACTATGGGCGCTCTTGGCAAGCAGGCGAT GTCGTGGGGTGTATGGTTGACATGAACGAACACACCATGATGTTCACACTGAATGGTGAA ATCCTTCTTGATGATTCAGGCTCAGAACTGGCTTTCAAGGACTTTGATGTTGGCGATGGA TTCATACCTGTGTGTAGCCTTGGAGTGGCTCAAGTGGGTAGGATGAACTTTGGAAAGGAT GTCAGCACCTTGAAATATTTCACCATCTGTGGCTTACAAGAGGGCTATGAACCATTTGCC GTTAATACAAACAGGGATATTACCATGTGGCTGAGCAAGAGGCTTCCTCAGTTTCTTCAA GTTCCATCAAACCATGAACATATAGAGGTGACCAGAATAGACGGCACCATAGACAGTTCC CCATGTTTAAAGGTCACTCAGAAGTCTTTTGGTTCTCAGAACAGCAACACTGATATCATG TTTTATCGCCTGAGCATGCCGATCGAGTGCGCGGAGGTCTTCTCCAAGACGGTGGCTGGA GGGCTCCCTGGGGCTGGCCTTTTTGGGCCCAAGAATGACTTGGAAGATTATGATGCTGAT TCTGACTTTGAGGTTCTGATGAAGACAGCTCATGGCCATCTAGTGCCCGATCGTGTTGAC AAAGACAAAGAAGCTACTAAACCAGAGTTTAACAACCACAAAGATTATGCCCAGGAAAAG CCCTCTCGTCTGAAACAAAGATTTTTGCTTAGAAGAACAAAGCCAGATTACAGCACAAGC CATTCTGCAAGACTCACCGAAGATGTCCTTGCTGATGATCGGGATGACTATGATTTCTTG ATGCAAACGTCCACGTACTATTACTCAGTGAGAATCTTTCCTGGACAAGAACCTGCTAAT GTCTGGGTGGGCTGGATTACATCAGATTTCCATCAGTATGACACAGGCTTTGACTTGGAC AGAGTTCGCACAGTAACAGTTACTCTAGGAGATGAAAAAGGAAAAGTGCATGAAAGCATC AAACGCAGCAACTGCTATATGGTATGTGCGGGTGAGAGCATGAGCCCCGGGCAAGGACGC AACAATAATGGACTGGAGATTGGCTGTGTGGTGGATGCTGCCAGCGGGCTGCTCACATTC ATTGCCAATGGCAAGGAACTGAGCACATACTATCAGGTGGAACCGAGTACAAAATTATTT CCTGCGGTTTTTGCACAAGCTACAAGTCCCAATGTTTTCCAGTTTGAGTTGGGAAGAATA AAGAATGTGATGCCTCTCTCGGCGGGATTATTCAAGAGTGAGCACAAGAACCCCGTGCCG CAGTGCCCCCCGCGCCTCCACGTGCAGTTCCTGTCACACGTCCTGTGGAGCAGAATGCCC AACCAGTTTTTGAAGGTAGATGTGTCTCGAATAAGTGAACGCCAAGGCTGGTTGGTGCAG TGTTTGGATCCTCTGCAGTTCATGTCTCTTCATATCCCTGAGGAAAACAGATCTGTTGAC ATCTTAGAGTTGACAGAGCAGGAGGAATTGCTGAAATTTCACTATCACACTCTCCGGCTC TACTCAGCCGTCTGTGCTCTTGGGAACCACCGGGTGGCCCATGCCCTGTGCAGCCATGTG GATGAACCTCAGCTCCTCTATGCCATTGAGAACAAGTACATGCCTGGTTTGCTGCGTGCT GGCTACTATGACCTGCTGATTGACATCCACCTGAGCTCCTATGCCACTGCCAGGCTCATG ATGAACAACGAGTACATTGTCCCCATGACGGAGGAGACGAAGAGCATCACCCTGTTCCCT GATGAGAACAAAAAACACGGCCTTCCAGGGATCGGCCTCAGCACCTCCCTCAGGCCACGG ATGCAGTTTTCCTCCCCCAGTTTTGTAAGCATTAGTAATGAATGTTACCAGTACAGTCCA GAGTTCCCACTGGACATCCTCAAGTCCAAAACCATACAGATGCTGACAGAAGCTGTTAAA GAGGGCAGTCTTCATGCCCGGGACCCAGTTGGAGGGACTACTGAATTCCTCTTTGTACCT CTCATCAAGCTTTTCTATACCCTGCTGATCATGGGCATCTTTCACAACGAGGACTTGAAG CACATCTTGCAGTTGATTGAGCCCAGTGTGTTTAAAGAAGCTGCCACTCCGGAGGAGGAG AGTGACACGCTGGAGAAAGAGCTCAGTGTGGACGATGCAAAGCTGCAAGGAGCTGGTGAG GAAGAAGCCAAGGGGGGCAAGCGGCCCAAGGAAGGCCTGCTCCAAATGAAACTGCCAGAG CCAGTTAAATTGCAGATGTGCCTACTGCTTCAGTACCTCTGTGACTGCCAGGTCCGGCAC CGGATAGAAGCCATTGTAGCCTTTTCAGATGATTTTGTGGCTAAGCTCCAAGACAATCAA CGTTTCCGATACAACGAAGTCATGCAAGCCTTAAACATGTCAGCTGCACTCACAGCCAGG AAGACAAAGGAATTTAGATCACCACCTCAAGAACAGATCAATATGCTTCTCAATTTTAAG GATGACAAAAGTGAATGTCCATGTCCAGAAGAAATTCGTGACCAACTATTGGATTTCCAT GAAGATTTGATGACACATTGTGGAATTGAGCTGGATGAAGATGGGTCTCTGGATGGAAAC AGTGATTTAACAATTAGAGGGCGTCTGCTATCCCTGGTAGAAAAGGTGACATATCTGAAG AAGAAGCAAGCAGAAAAACCAGTTGAGAGTGACTCCAAAAAGTCCTCCACTCTGCAGCAG CTGATTTCTGAGACCATGGTCCGATGGGCTCAGGAGTCTGTCATTGAAGACCCCGAGCTG GTGAGGGCCATGTTTGTGTTGCTCCATCGGCAGTATGACGGCATTGGGGGTCTTGTTCGG GCCCTGCCAAAGACCTACACGATAAATGGTGTGTCCGTGGAGGACACCATCAACCTGCTG GCATCCCTTGGTCAGATTCGGTCCCTGCTGAGTGTGAGAATGGGCAAAGAAGAAGAGAAG CTCATGATTCGTGGATTAGGGGATATTATGAATAACAAAGTGTTTTACCAGCACCCTAAT CTCATGAGGGCACTGGGGATGCACGAGACTGTGATGGAGGTCATGGTGAACGTCCTTGGA GGTGGAGAGTCCAAGGAAATCACCTTTCCCAAGATGGTGGCCAACTGTTGCCGTTTTCTC TGTTACTTCTGTCGTATAAGTAGGCAGAATCAAAAAGCTATGTTTGATCATCTCAGTTAT TTACTGGAAAACAGCAGTGTTGGTCTTGCCTCCCCAGCTATGAGAGGTTCAACACCACTG GATGTGGCTGCAGCTTCGGTGATGGATAATAATGAACTAGCATTAGCTCTGCGTGAGCCG GATCTAGAAAAGGTAGTTCGTTATTTGGCTGGTTGTGGACTGCAAAGTTGCCAGATGCTG GTGTCTAAGGGCTATCCAGACATTGGGTGGAACCCAGTTGAAGGAGAGAGATATCTTGAC TTTCTTAGATTTGCTGTCTTCTGTAATGGGGAGAGTGTGGAGGAAAATGCAAATGTCGTG GTGAGATTGCTCATTCGGAGGCCTGAGTGTTTTGGTCCTGCTTTGAGAGGAGAAGGTGGG AATGGGCTTCTTGCAGCAATGGAAGAAGCCATCAAAATCGCCGAGGATCCTTCCCGAGAT GGTCCCTCACCAAATAGCGGATCCAGTAAAACACTTGACACAGAGGAGGAGGAAGATGAC ACTATCCACATGGGGAACGCGATCATGACCTTCTATTCAGCTTTGATTGACCTCTTGGGA CGCTGTGCTCCTGAGATGCATTTGATTCATGCCGGGAAGGGAGAAGCCATCAGAATTAGG TCCATTTTGAGATCCCTCATTCCCCTGGGAGATTTGGTGGGCGTTATCAGCATCGCTTTT CAGATGCCAACAATAGCCAAAGATGGGAATGTGGTGGAACCTGACATGTCTGCGGGGTTT TGCCCAGATCACAAGGCAGCCATGGTTTTATTCCTTGACAGGGTCTATGGGATTGAGGTT CAAGACTTCCTCCTCCATCTTCTTGAGGTTGGCTTTCTGCCAGATCTCCGGGCGGCTGCT TCTTTAGATACGGCAGCTTTGAGTGCTACAGACATGGCCTTGGCCCTCAATCGGTACCTT TGCACAGCCGTCTTGCCATTGTTAACAAGATGTGCTCCTCTCTTTGCTGGCACAGAGCAC CACGCTTCTCTCATTGACTCATTACTTCATACTGTGTATAGACTTTCTAAGGGCTGTTCA CTTACCAAAGCTCAGCGGGATTCCATAGAAGTTTGTTTACTCTCTATTTGTGGACAACTG AGACCTTCTATGATGCAGCACTTACTCAGAAGATTAGTATTTGATGTTCCATTATTAAAT GAACACGCAAAGATGCCTCTTAAACTGCTGACAAATCATTATGAAAGATGCTGGAAATAT TACTGCCTGCCTGGAGGGTGGGGAAACTTTGGTGCTGCCTCAGAAGAAGAACTTCATTTA TCAAGAAAGTTGTTCTGGGGCATTTTTGATGCCCTGTCTCAAAAGAAATATGAACAAGAA CTTTTCAAACTGGCACTGCCTTGCCTGAGTGCAGTTGCGGGAGCTTTGCCTCCAGACTAC ATGGAGTCAAATTATGTCAGTATGATGGAAAAACAGTCATCAATGGATTCTGAAGGGAAC TTTAACCCACAACCTGTTGATACCTCAAATATTACAATTCCTGAGAAATTGGAATACTTC ATTAACAAATATGCAGAACACTCCCATGACAAATGGTCAATGGACAAGTTGGCAAATGGA TGGATTTATGGAGAAATATATTCAGACTCTTCTAAGGTTCAGCCATTAATGAAGCCATAT AAGCTATTGTCTGAAAAGGAAAAAGAAATTTATCGCTGGCCAATCAAAGAATCTTTAAAA ACTATGCTGGCTTGGGGCTGGAGAATTGAAAGAACTCGGGAGGGAGACAGCATGGCCCTT TACAACCGGACTCGTCGTATTTCTCAGACAAGCCAGGTTTCTGTGGACGCTGCCCATGGT TACAGTCCCCGGGCCATTGACATGAGCAATGTTACACTATCTAGAGACCTGCATGCTATG GCAGAAATGATGGCTGAAAACTACCATAATATATGGGCAAAGAAAAAGAAAATGGAGTTG GAGTCCAAAGGAGGAGGAAACCATCCTCTGCTGGTGCCCTATGATACACTGACAGCCAAA GAGAAAGCCAAGGATAGAGAAAAAGCACAGGACATCCTCAAGTTCTTGCAGATCAATGGA TATGCTGTATCCAGAGGATTTAAGGACCTGGAACTGGACACGCCTTCTATTGAGAAACGA TTTGCCTATAGTTTCCTCCAACAACTCATTCGCTATGTGGATGAAGCCCATCAGTATATC CTGGAGTTTGATGGTGGCAGCAGAGGCAAAGGAGAACATTTCCCTTATGAACAAGAAATC AAGTTCTTTGCAAAAGTCGTTCTTCCTTTAATTGATCAGTATTTCAAAAACCATCGTTTA TACTTCTTATCTGCAGCAAGCAGACCTCTCTGCTCTGGAGGACATGCTTCCAACAAAGAG AAAGAAATGGTGACTAGCCTATTCTGCAAACTTGGAGTTCTTGTCAGGCATAGGATTTCA CTATTTGGCAATGATGCAACATCAATTGTCAACTGTCTTCATATTTTGGGTCAGACTTTG GATGCAAGGACAGTGATGAAGACTGGCCTGGAGAGTGTTAAAAGTGCACTCAGAGCTTTT CTGGACAACGCTGCAGAGGATCTGGAGAAGACCATGGAAAACCTCAAGCAGGGCCAGTTC ACTCACACCCGAAACCAGCCCAAAGGGGTTACTCAGATTATCAATTACACCACAGTGGCC CTGCTGCCAATGCTGTCTTCATTATTTGAACATATTGGCCAGCATCAGTTCGGAGAAGAC CTAATATTGGAAGATGTCCAGGTGTCTTGTTATAGAATTCTGACTAGCTTATATGCTTTG GGAACCAGCAAGAGTATTTACGTGGAGAGGCAACGTTCTGCATTAGGAGAATGTCTAGCT GCCTTTGCTGGTGCTTTTCCTGTAGCATTTTTGGAAACTCATCTGGACAAACATAATATT TACTCCATCTACAATACCAAGTCTTCACGAGAAAGAGCAGCTCTCAGTTTGCCAACTAAT GTGGAAGATGTTTGTCCAAACATACCGTCTTTGGAGAAACTCATGGAAGAAATCGTGGAA TTAGCCGAGTCCGGCATTCGCTACACTCAAATGCCACATGTCATGGAAGTCATACTGCCC ATGCTTTGCAGCTACATGTCTCGTTGGTGGGAGCATGGACCTGAGAACAATCCAGAACGG GCCGAGATGTGCTGCACAGCCCTGAACTCAGAGCACATGAACACACTTCTAGGGAACATA TTGAAAATCATATATAATAACTTGGGGATTGATGAGGGAGCCTGGATGAAGAGGCTAGCA GTGTTTTCCCAGCCTATAATAAATAAAGTGAAACCTCAGCTCTTGAAAACTCATTTCTTG CCGTTAATGGAGAAACTCAAGAAAAAGGCAGCTACGGTGGTGTCTGAGGAAGACCACCTG AAAGCTGAGGCCAGGGGGGACATGTCGGAGGCAGAACTCCTCATCCTAGATGAGTTCACC ACACTGGCCAGAGATCTCTATGCCTTCTACCCTCTCTTGATTAGATTTGTGGACTATAAC AGGGCAAAGTGGCTAAAGGAGCCTAACCCAGAAGCAGAGGAGCTCTTCCGCATGGTGGCT GAAGTGTTTATCTACTGGTCGAAGTCCCATAATTTCAAAAGAGAAGAGCAGAACTTCGTT GTACAGAATGAAATCAACAATATGTCTTTCCTTATTACTGATACCAAGTCAAAGATGTCA AAGGCAGCTGTTTCTGATCAGGAAAGGAAGAAAATGAAGCGCAAAGGAGATCGGTATTCC ATGCAGACCTCTCTGATTGTAGCAGCTCTGAAGCGGTTACTGCCCATTGGGTTGAACATC TGTGCCCCTGGGGACCAGGAGCTCATTGCTCTGGCCAAAAATCGATTTAGCCTGAAAGAT ACCGAGGATGAAGTACGAGATATAATCCGCAGCAATATTCATTTACAAGGCAAGTTGGAG GATCCTGCTATTAGATGGCAAATGGCTCTTTACAAAGACTTACCAAACAGGACTGATGAT ACCTCAGATCCAGAGAAGACGGTAGAAAGAGTATTGGATATAGCAAATGTGCTTTTTCAT CTTGAACAGAAGTCTAAACGTGTGGGTCGGAGACATTACTGTCTGGTGGAACATCCTCAG AGATCTAAAAAGGCTGTATGGCATAAACTACTGTCCAAGCAGAGGAAAAGGGCTGTTGTA GCCTGCTTCCGGATGGCCCCCTTATATAATCTGCCAAGGCATCGGGCTGTCAATCTCTTT CTTCAGGGATATGAAAAGTCTTGGATTGAAACAGAAGAACATTACTTTGAAGATAAACTG ATAGAAGATTTAGCAAAACCTGGGGCTGAACCTCCAGAAGAAGATGAAGGCACTAAGAGA GTTGATCCTCTACATCAGCTGATCCTTCTGTTTAGTCGGACAGCTTTAACAGAGAAATGC AAACTGGAGGAAGATTTTTTATATATGGCCTATGCAGATATTATGGCAAAGAGTTGTCAT GATGAGGAAGATGACGATGGTGAAGAGGAAGTGAAGAGTTTTGAAGAAAAAGAAATGGAA AAGCAAAAGCTTCTATACCAGCAAGCCCGACTCCACGATCGTGGCGCGGCTGAGATGGTG CTACAGACAATCAGTGCCAGCAAAGGTGAAACTGGACCAATGGTAGCAGCTACTCTGAAA CTTGGAATTGCTATTTTAAATGGTGGGAACTCCACAGTACAGCAGAAAATGCTTGACTAC CTCAAGGAGAAAAAGGATGTGGGCTTCTTTCAGAGCCTGGCCGGCCTGATGCAGTCATGT AGTGTCCTTGACCTAAATGCATTTGAGCGACAAAACAAAGCTGAAGGTCTTGGGATGGTG ACAGAGGAAGGATCAGGAGAAAAGGTTCTGCAGGACGATGAGTTCACCTGTGACCTCTTC CGATTCCTGCAACTACTCTGTGAGGGACACAACTCAGATTTTCAGAATTATCTGAGAACT CAGACTGGCAATAATACAACTGTCAACATAATTATCTCCACTGTAGACTACCTACTGAGA GTTCAGGAATCAATTAGTGACTTTTATTGGTATTACTCTGGGAAAGATGTTATTGATGAA CAAGGACAACGGAATTTCTCCAAAGCTATCCAAGTGGCAAAACAAGTCTTTAACACTCTT ACAGAGTATATTCAGGGTCCTTGCACTGGGAATCAACAGAGTTTGGCACACAGCAGGCTG TGGGATGCTGTGGTCGGCTTTCTTCATGTGTTTGCCCATATGCAGATGAAGCTGTCGCAG GATTCCAGTCAAATTGAGCTATTAAAAGAATTAATGGATCTGCAGAAGGATATGGTGGTC ATGTTGCTGTCCATGTTAGAAGGTAATGTTGTTAATGGAACGATTGGCAAACAGATGGTG GATATGCTTGTGGAATCTTCCAACAACGTGGAGATGATTCTCAAATTTTTTGACATGTTC TTAAAACTAAAGGATTTGACGTCGTCTGATACTTTTAAAGAATATGACCCCGATGGCAAG GGAGTCATTTCCAAGAGGGACTTCCACAAAGCGATGGAGAGCCATAAGCACTACACGCAG TCAGAAACGGAATTTCTTTTGTCTTGTGCGGAGACGGATGAGAATGAAACCCTCGACTAC GAAGAGTTCGTCAAACGCTTCCACGAACCTGCGAAGGACATCGGCTTCAACGTCGCCGTC CTTCTGACAAACCTCTCTGAGCACATGCCCAACGATACCCGACTTCAGACTTTTCTGGAA TTAGCAGAGAGCGTCCTGAATTATTTCCAGCCCTTTCTGGGCCGCATCGAAATCATGGGA AGCGCCAAACGCATCGAGAGGGTCTATTTTGAAATCAGTGAGTCCAGCCGAACCCAGTGG GAGAAGCCCCAGGTCAAGGAGTCCAAAAGACAGTTCATATTTGACGTGGTCAACGAAGGC GGAGAGAAAGAGAAGATGGAACTCTTTGTGAACTTCTGCGAGGACACCATCTTTGAAATG CAGCTGGCGGCTCAGATCTCGGAGTCGGACTTGAACGAGAGGTCAGCGAATAAGGAAGAA AGCGAGAAGGAGAGGCCGGAAGAGCAGGGGCCGAGGATGGCTTTCTTCTCCATTCTGACG GTCAGGTCGGCCCTGTTTGCGCTCAGGTACAATATCTTGACCCTTATGCGAATGCTCAGT CTGAAGAGCCTGAAGAAGCAGATGAAAAAAGTAAAAAAGATGACCGTGAAGGACATGGTC ACGGCCTTCTTTTCATCCTACTGGAGTATTTTCATGACCCTCTTGCACTTCGTGGCCAGC GTTTTCAGAGGCTTTTTCCGCATCATTTGCAGCCTGCTGCTTGGGGGAAGCCTCGTCGAA GGTGCTAAAAAGATCAAAGTTGCAGAACTGTTAGCCAACATGCCAGACCCCACTCAGGAT GAGGTTAGAGGAGATGGGGAGGAGGGAGAGAGGAAACCCCTGGAAGCCGCCCTGCCCTCC GAGGATCTGACCGACTTAAAGGAGCTGACAGAGGAAAGTGACCTTCTTTCGGACATCTTT GGCCTGGATCTGAAGAGAGAAGGAGGACAGTACAAACTGATTCCTCATAATCCAAATGCT GGGCTCAGTGACCTCATGAGCAACCCAGTCCCCATGCCTGAGGTGCAGGAAAAATTTCAG GAACAGAAGGCAAAAGAAGAAGAAAAGGAAGAAAAAGAAGAAACCAAATCTGAACCTGAA AAAGCCGAGGGAGAAGATGGAGAAAAAGAAGAGAAAGCCAAGGAAGACAAGGGCAAACAA AAGTTGAGGCAGCTTCACACACACAGATACGGAGAACCAGAAGTGCCAGAGTCAGCATTC TGGAAGAAAATCATAGCATATCAACAGAAACTTCTAAACTATTTTGCTCGCAACTTTTAC AACATGAGAATGTTAGCCTTATTTGTCGCATTTGCTATCAATTTCATCTTGCTCTTTTAT AAGGTCTCCACTTCTTCTGTGGTTGAAGGAAAGGAGCTCCCCACGAGAAGTTCAAGTGAA AATGCCAAAGTGACAAGCCTGGACAGCAGCTCCCATAGAATCATCGCAGTTCACTATGTA CTAGAGGAGAGCAGCGGCTACATGGAGCCCACGTTGCGTATCTTAGCTATTCTGCACACG GTCATTTCTTTCTTCTGCATCATTGGATACTACTGCTTGAAAGTCCCATTGGTTATTTTT AAGCGAGAAAAGGAAGTGGCACGGAAATTGGAATTTGATGGGCTTTATATTACAGAACAG CCTTCAGAAGATGATATTAAAGGCCAGTGGGATAGACTCGTAATCAACACACAGTCATTT CCCAACAACTACTGGGACAAATTTGTTAAAAGAAAGGTTATGGATAAATATGGAGAGTTC TACGGCCGAGACAGAATCAGTGAATTACTTGGCATGGACAAGGCAGCTCTGGACTTCAGT GATGCCAGAGAAAAGAAGAAGCCAAAGAAAGACAGCTCCTTATCAGCTGTACTGAACTCC ATTGATGTGAAGTATCAGATGTGGAAACTAGGAGTCGTTTTCACTGACAACTCCTTCCTC TACCTAGCCTGGTATATGACTATGTCTGTTCTTGGACACTATAACAACTTTTTTTTTGCC GCTCACCTTCTCGACATTGCTATGGGATTCAAGACATTAAGAACCATCTTGTCCTCAGTA ACTCACAATGGCAAACAGCTCGTATTAACCGTTGGCTTATTAGCTGTTGTTGTATACCTA TACACTGTGGTGGCATTCAATTTTTTCCGAAAATTCTACAATAAAAGTGAAGATGGTGAT ACACCAGATATGAAATGTGACGATATGCTAACATGCTATATGTTCCACATGTATGTTGGA GTTCGTGCTGGAGGAGGGATCGGGGATGAAATCGAAGACCCAGCAGGAGATGAATATGAG ATCTATCGAATCATCTTTGACATCACTTTCTTCTTCTTTGTTATTGTCATTCTCTTGGCC ATAATACAAGGTCTAATTATTGATGCTTTTGGAGAACTAAGAGACCAACAGGAACAAGTC AAAGAAGACATGGAGACCAAATGCTTCATCTGTGGGATAGGCAATGATTACTTCGACACA GTGCCACATGGCTTTGAAACCCACACTTTACAGGAGCACAACTTGGCTAATTACTTGTTT TTTCTGATGTATCTTATAAACAAAGATGAAACAGAACACACAGGACAGGAATCTTATGTC TGGAAGATGTATCAAGAAAGGTGTTGGGAATTTTTCCCAGCAGGGGATTGCTTCCGGAAA CAGTATGAAGACCAGCTAAATTAA
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:10484
Chromosome Location	1
Locus	Not Available
References	Tunwell RE, Wickenden C, Bertrand BM, Shevchenko VI, Walsh MB, Allen PD, Lai FA: The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis. Biochem J. 1996 Sep 1;318 ( Pt 2):477-87. 8809036 Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 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Nature. 2006 May 18;441(7091):315-21. 16710414 Awad SS, Lamb HK, Morgan JM, Dunlop W, Gillespie JI: Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium. Biochem J. 1997 Mar 15;322 ( Pt 3):777-83. 9148749 Martin C, Chapman KE, Seckl JR, Ashley RH: Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum. Neuroscience. 1998 Jul;85(1):205-16. 9607712 Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR: PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell. 2000 May 12;101(4):365-76. 10830164 Wright NT, Prosser BL, Varney KM, Zimmer DB, Schneider MF, Weber DJ: S100A1 and calmodulin compete for the same binding site on ryanodine receptor. J Biol Chem. 2008 Sep 26;283(39):26676-83. doi: 10.1074/jbc.M804432200. 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Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a003996. doi: 10.1101/cshperspect.a003996. Epub 2010 Oct 20. 20961976 Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 Jan 16;103(2):196-200. 11208676 Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 Jan 30;103(4):485-90. 11157710 Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, DeSimone L, Coltorti F, Bloise R, Keegan R, Cruz Filho FE, Vignati G, Benatar A, DeLogu A: Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 Jul 2;106(1):69-74. 12093772 Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N, Turrini P, Thiene G, Danieli GA, Nava A: Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol. 2002 Jul 17;40(2):341-9. 12106942 Laitinen PJ, Swan H, Kontula K: Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet. 2003 Nov;11(11):888-91. 14571276 Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ: Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 Oct 12;110(15):2119-24. Epub 2004 Oct 4. 15466642 Bagattin A, Veronese C, Rampazzo A, Danieli GA: Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. Hum Genet. 2004 Mar;114(4):404. 15046072 Bagattin A, Veronese C, Rampazzo A, Danieli GA: Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. Hum Genet. 2004 Mar;114(4):405. 15046073 Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ: Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 Nov;79(11):1380-4. 15544015 Jiang D, Chen W, Wang R, Zhang L, Chen SR: Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18309-14. Epub 2007 Nov 1. 17984046