Q92736

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	RYR2_HUMAN; Q92736;
Entrez ID	6262
GenBank Protein ID	NM_001035.2; XM_006711805.3;
GenBank Nucleotide ID	NP_001026.2; XP_006711868.1;
Protein Name	Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)
Gene Name	RYR2
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MADGGEGEDE IQFLRTDDEV VLQCTATIHK EQQKLCLAAE GFGNRLCFLE STSNSKNVPP 60 DLSICTFVLE QSLSVRALQE MLANTVEKSE GQVDVEKWKF MMKTAQGGGH RTLLYGHAIL 120 LRHSYSGMYL CCLSTSRSST DKLAFDVGLQ EDTTGEACWW TIHPASKQRS EGEKVRVGDD 180 LILVSVSSER YLHLSYGNGS LHVDAAFQQT LWSVAPISSG SEAAQGYLIG GDVLRLLHGH 240 MDECLTVPSG EHGEEQRRTV HYEGGAVSVH ARSLWRLETL RVAWSGSHIR WGQPFRLRHV 300 TTGKYLSLME DKNLLLMDKE KADVKSTAFT FRSSKEKLDV GVRKEVDGMG TSEIKYGDSV 360 CYIQHVDTGL WLTYQSVDVK SVRMGSIQRK AIMHHEGHMD DGISLSRSQH EESRTARVIR 420 STVFLFNRFI RGLDALSKKA KASTVDLPIE SVSLSLQDLI GYFHPPDEHL EHEDKQNRLR 480 ALKNRQNLFQ EEGMINLVLE CIDRLHVYSS AAHFADVAGR EAGESWKSIL NSLYELLAAL 540 IRGNRKNCAQ FSGSLDWLIS RLERLEASSG ILEVLHCVLV ESPEALNIIK EGHIKSIISL 600 LDKHGRNHKV LDVLCSLCVC HGVAVRSNQH LICDNLLPGR DLLLQTRLVN HVSSMRPNIF 660 LGVSEGSAQY KKWYYELMVD HTEPFVTAEA THLRVGWAST EGYSPYPGGG EEWGGNGVGD 720 DLFSYGFDGL HLWSGCIART VSSPNQHLLR TDDVISCCLD LSAPSISFRI NGQPVQGMFE 780 NFNIDGLFFP VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCYEAVLPKE KLKVEHSREY 840 KQERTYTRDL LGPTVSLTQA AFTPIPVDTS QIVLPPHLER IREKLAENIH ELWVMNKIEL 900 GWQYGPVRDD NKRQHPCLVE FSKLPEQERN YNLQMSLETL KTLLALGCHV GISDEHAEDK 960 VKKMKLPKNY QLTSGYKPAP MDLSFIKLTP SQEAMVDKLA ENAHNVWARD RIRQGWTYGI 1020 QQDVKNRRNP RLVPYTLLDD RTKKSNKDSL REAVRTLLGY GYNLEAPDQD HAARAEVCSG 1080 TGERFRIFRA EKTYAVKAGR WYFEFETVTA GDMRVGWSRP GCQPDQELGS DERAFAFDGF 1140 KAQRWHQGNE HYGRSWQAGD VVGCMVDMNE HTMMFTLNGE ILLDDSGSEL AFKDFDVGDG 1200 FIPVCSLGVA QVGRMNFGKD VSTLKYFTIC GLQEGYEPFA VNTNRDITMW LSKRLPQFLQ 1260 VPSNHEHIEV TRIDGTIDSS PCLKVTQKSF GSQNSNTDIM FYRLSMPIEC AEVFSKTVAG 1320 GLPGAGLFGP KNDLEDYDAD SDFEVLMKTA HGHLVPDRVD KDKEATKPEF NNHKDYAQEK 1380 PSRLKQRFLL RRTKPDYSTS HSARLTEDVL ADDRDDYDFL MQTSTYYYSV RIFPGQEPAN 1440 VWVGWITSDF HQYDTGFDLD RVRTVTVTLG DEKGKVHESI KRSNCYMVCA GESMSPGQGR 1500 NNNGLEIGCV VDAASGLLTF IANGKELSTY YQVEPSTKLF PAVFAQATSP NVFQFELGRI 1560 KNVMPLSAGL FKSEHKNPVP QCPPRLHVQF LSHVLWSRMP NQFLKVDVSR ISERQGWLVQ 1620 CLDPLQFMSL HIPEENRSVD ILELTEQEEL LKFHYHTLRL YSAVCALGNH RVAHALCSHV 1680 DEPQLLYAIE NKYMPGLLRA GYYDLLIDIH LSSYATARLM MNNEYIVPMT EETKSITLFP 1740 DENKKHGLPG IGLSTSLRPR MQFSSPSFVS ISNECYQYSP EFPLDILKSK TIQMLTEAVK 1800 EGSLHARDPV GGTTEFLFVP LIKLFYTLLI MGIFHNEDLK HILQLIEPSV FKEAATPEEE 1860 SDTLEKELSV DDAKLQGAGE EEAKGGKRPK EGLLQMKLPE PVKLQMCLLL QYLCDCQVRH 1920 RIEAIVAFSD DFVAKLQDNQ RFRYNEVMQA LNMSAALTAR KTKEFRSPPQ EQINMLLNFK 1980 DDKSECPCPE EIRDQLLDFH EDLMTHCGIE LDEDGSLDGN SDLTIRGRLL SLVEKVTYLK 2040 KKQAEKPVES DSKKSSTLQQ LISETMVRWA QESVIEDPEL VRAMFVLLHR QYDGIGGLVR 2100 ALPKTYTING VSVEDTINLL ASLGQIRSLL SVRMGKEEEK LMIRGLGDIM NNKVFYQHPN 2160 LMRALGMHET VMEVMVNVLG GGESKEITFP KMVANCCRFL CYFCRISRQN QKAMFDHLSY 2220 LLENSSVGLA SPAMRGSTPL DVAAASVMDN NELALALREP DLEKVVRYLA GCGLQSCQML 2280 VSKGYPDIGW NPVEGERYLD FLRFAVFCNG ESVEENANVV VRLLIRRPEC FGPALRGEGG 2340 NGLLAAMEEA IKIAEDPSRD GPSPNSGSSK TLDTEEEEDD TIHMGNAIMT FYSALIDLLG 2400 RCAPEMHLIH AGKGEAIRIR SILRSLIPLG DLVGVISIAF QMPTIAKDGN VVEPDMSAGF 2460 CPDHKAAMVL FLDRVYGIEV QDFLLHLLEV GFLPDLRAAA SLDTAALSAT DMALALNRYL 2520 CTAVLPLLTR CAPLFAGTEH HASLIDSLLH TVYRLSKGCS LTKAQRDSIE VCLLSICGQL 2580 RPSMMQHLLR RLVFDVPLLN EHAKMPLKLL TNHYERCWKY YCLPGGWGNF GAASEEELHL 2640 SRKLFWGIFD ALSQKKYEQE LFKLALPCLS AVAGALPPDY MESNYVSMME KQSSMDSEGN 2700 FNPQPVDTSN ITIPEKLEYF INKYAEHSHD KWSMDKLANG WIYGEIYSDS SKVQPLMKPY 2760 KLLSEKEKEI YRWPIKESLK TMLAWGWRIE RTREGDSMAL YNRTRRISQT SQVSVDAAHG 2820 YSPRAIDMSN VTLSRDLHAM AEMMAENYHN IWAKKKKMEL ESKGGGNHPL LVPYDTLTAK 2880 EKAKDREKAQ DILKFLQING YAVSRGFKDL ELDTPSIEKR FAYSFLQQLI RYVDEAHQYI 2940 LEFDGGSRGK GEHFPYEQEI KFFAKVVLPL IDQYFKNHRL YFLSAASRPL CSGGHASNKE 3000 KEMVTSLFCK LGVLVRHRIS LFGNDATSIV NCLHILGQTL DARTVMKTGL ESVKSALRAF 3060 LDNAAEDLEK TMENLKQGQF THTRNQPKGV TQIINYTTVA LLPMLSSLFE HIGQHQFGED 3120 LILEDVQVSC YRILTSLYAL GTSKSIYVER QRSALGECLA AFAGAFPVAF LETHLDKHNI 3180 YSIYNTKSSR ERAALSLPTN VEDVCPNIPS LEKLMEEIVE LAESGIRYTQ MPHVMEVILP 3240 MLCSYMSRWW EHGPENNPER AEMCCTALNS EHMNTLLGNI LKIIYNNLGI DEGAWMKRLA 3300 VFSQPIINKV KPQLLKTHFL PLMEKLKKKA ATVVSEEDHL KAEARGDMSE AELLILDEFT 3360 TLARDLYAFY PLLIRFVDYN RAKWLKEPNP EAEELFRMVA EVFIYWSKSH NFKREEQNFV 3420 VQNEINNMSF LITDTKSKMS KAAVSDQERK KMKRKGDRYS MQTSLIVAAL KRLLPIGLNI 3480 CAPGDQELIA LAKNRFSLKD TEDEVRDIIR SNIHLQGKLE DPAIRWQMAL YKDLPNRTDD 3540 TSDPEKTVER VLDIANVLFH LEQKSKRVGR RHYCLVEHPQ RSKKAVWHKL LSKQRKRAVV 3600 ACFRMAPLYN LPRHRAVNLF LQGYEKSWIE TEEHYFEDKL IEDLAKPGAE PPEEDEGTKR 3660 VDPLHQLILL FSRTALTEKC KLEEDFLYMA YADIMAKSCH DEEDDDGEEE VKSFEEKEME 3720 KQKLLYQQAR LHDRGAAEMV LQTISASKGE TGPMVAATLK LGIAILNGGN STVQQKMLDY 3780 LKEKKDVGFF QSLAGLMQSC SVLDLNAFER QNKAEGLGMV TEEGSGEKVL QDDEFTCDLF 3840 RFLQLLCEGH NSDFQNYLRT QTGNNTTVNI IISTVDYLLR VQESISDFYW YYSGKDVIDE 3900 QGQRNFSKAI QVAKQVFNTL TEYIQGPCTG NQQSLAHSRL WDAVVGFLHV FAHMQMKLSQ 3960 DSSQIELLKE LMDLQKDMVV MLLSMLEGNV VNGTIGKQMV DMLVESSNNV EMILKFFDMF 4020 LKLKDLTSSD TFKEYDPDGK GVISKRDFHK AMESHKHYTQ SETEFLLSCA ETDENETLDY 4080 EEFVKRFHEP AKDIGFNVAV LLTNLSEHMP NDTRLQTFLE LAESVLNYFQ PFLGRIEIMG 4140 SAKRIERVYF EISESSRTQW EKPQVKESKR QFIFDVVNEG GEKEKMELFV NFCEDTIFEM 4200 QLAAQISESD LNERSANKEE SEKERPEEQG PRMAFFSILT VRSALFALRY NILTLMRMLS 4260 LKSLKKQMKK VKKMTVKDMV TAFFSSYWSI FMTLLHFVAS VFRGFFRIIC SLLLGGSLVE 4320 GAKKIKVAEL LANMPDPTQD EVRGDGEEGE RKPLEAALPS EDLTDLKELT EESDLLSDIF 4380 GLDLKREGGQ YKLIPHNPNA GLSDLMSNPV PMPEVQEKFQ EQKAKEEEKE EKEETKSEPE 4440 KAEGEDGEKE EKAKEDKGKQ KLRQLHTHRY GEPEVPESAF WKKIIAYQQK LLNYFARNFY 4500 NMRMLALFVA FAINFILLFY KVSTSSVVEG KELPTRSSSE NAKVTSLDSS SHRIIAVHYV 4560 LEESSGYMEP TLRILAILHT VISFFCIIGY YCLKVPLVIF KREKEVARKL EFDGLYITEQ 4620 PSEDDIKGQW DRLVINTQSF PNNYWDKFVK RKVMDKYGEF YGRDRISELL GMDKAALDFS 4680 DAREKKKPKK DSSLSAVLNS IDVKYQMWKL GVVFTDNSFL YLAWYMTMSV LGHYNNFFFA 4740 AHLLDIAMGF KTLRTILSSV THNGKQLVLT VGLLAVVVYL YTVVAFNFFR KFYNKSEDGD 4800 TPDMKCDDML TCYMFHMYVG VRAGGGIGDE IEDPAGDEYE IYRIIFDITF FFFVIVILLA 4860 IIQGLIIDAF GELRDQQEQV KEDMETKCFI CGIGNDYFDT VPHGFETHTL QEHNLANYLF 4920 FLMYLINKDE TEHTGQESYV WKMYQERCWE FFPAGDCFRK QYEDQLN 4968 Fasta Sequence >Q92736\|RYR2\|Homo sapiens (Human) MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPPDLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAILLRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDDLILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGHMDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHVTTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSVCYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIRSTVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLRALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAALIRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISLLDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIFLGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGDDLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFENFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREYKQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIELGWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDKVKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGIQQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSGTGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGFKAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDGFIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQVPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAGGLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEKPSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPANVWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGRNNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRIKNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQCLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHVDEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFPDENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVKEGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEESDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRHRIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFKDDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLKKKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVRALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSYLLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQMLVSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGGNGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLGRCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGFCPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYLCTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQLRPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHLSRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGNFNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPYKLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHGYSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAKEKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYILEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKEKEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAFLDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGEDLILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNIYSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILPMLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLAVFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFTTLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFVVQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNICAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDDTSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVVACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKRVDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEMEKQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDYLKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLFRFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDEQGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQDSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMFLKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDYEEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMGSAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEMQLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLSLKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVEGAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIFGLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPEKAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFYNMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYVLEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQPSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFSDAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFAAHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGDTPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLFFLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Heart failure	tumor tissue	U	S2808	23507255
1	[Reference]: Abnormal regulation of RyR2 contributes to heart failure, and atrial and ventricular arrhythmias. RyR2 channels are oxidized, nitrosylated, and hyperphosphorylated by protein kinase A (PKA) in heart failure, resulting in "leaky" channels
2	Serine Phosphorylation	Heart failure		N	S2814	22511749
2	[Reference]: S2814A knock-in mice exhibit reduced heart failure development in response to pressure overload

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 9) (view all)	MESH:C563409 ; Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 MESH:D000067877 ; Autism Spectrum Disorder MESH:D058065 ; Diabetic Cardiomyopathies MESH:C562839 ; Mesothelioma, Malignant MESH:D017202 ; Myocardial Ischemia MESH:C536334 ; Polymorphic catecholergic ventricular tachycardia MESH:D013610 ; Tachycardia MESH:D017180 ; Tachycardia, Ventricular OMIM:604772 ; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
HGMD (count: 72) (view all)	CG075852; Ventricular tachycardia, polymorphic; Gross deletions CG090705; Catecholaminergic polymorphic ventricular tachycardia; Gross deletions CX067925; Arrhythmogenic right ventricular cardiomyopathy, assoc. with; Small indels CX056495; Ventricular tachycardia, polymorphic; Small indels CI057819; Ventricular tachycardia, polymorphic; Small insertions CM056388; Arrhythmogenic right ventricular dysplasia type 2; Missense/nonsense CM043074; Ventricular tachycardia, polymorphic; Missense/nonsense CM065450; Ventricular tachycardia, polymorphic; Missense/nonsense CM010421; Arrhythmogenic right ventricular dysplasia type 2; Missense/nonsense CM066995; Ventricular tachycardia, polymorphic; Missense/nonsense CM065449; Ventricular tachycardia, polymorphic; Missense/nonsense CM043075; Ventricular tachycardia, polymorphic; Missense/nonsense CM043076; Ventricular tachycardia, polymorphic; Missense/nonsense CM023669; Ventricular tachycardia, polymorphic; Missense/nonsense CM010422; Arrhythmogenic right ventricular dysplasia type 2; Missense/nonsense CM056384; Ventricular tachycardia, polymorphic; Missense/nonsense CM090704; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM090703; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM010134; Ventricular tachycardia, polymorphic; Missense/nonsense CM056387; Ventricular tachycardia, polymorphic; Missense/nonsense CM033016; Ventricular tachycardia, polymorphic; Missense/nonsense CM087240; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM024368; Ventricular tachycardia, polymorphic; Missense/nonsense CM010418; Ventricular tachycardia, polymorphic; Missense/nonsense CM065452; Ventricular tachycardia, polymorphic; Missense/nonsense CM071984; Ventricular tachycardia, polymorphic; Missense/nonsense CM010423; Arrhythmogenic right ventricular dysplasia type 2; Missense/nonsense CM056386; Ventricular tachycardia, polymorphic; Missense/nonsense HM030024; Ventricular tachycardia, polymorphic; Missense/nonsense CM023670; Ventricular tachycardia, polymorphic; Missense/nonsense CM056049; Ventricular tachycardia, polymorphic; Missense/nonsense CM065451; Ventricular tachycardia, polymorphic; Missense/nonsense CM043077; Ventricular tachycardia, polymorphic; Missense/nonsense CM010135; Ventricular tachycardia, polymorphic; Missense/nonsense CM010424; Arrhythmogenic right ventricular dysplasia type 2; Missense/nonsense CM024348; Ventricular tachycardia, polymorphic; Missense/nonsense CM056391; Ventricular tachycardia, polymorphic; Missense/nonsense CM066993; Ventricular tachycardia, polymorphic; Missense/nonsense CM024349; Ventricular tachycardia, polymorphic; Missense/nonsense CM056390; Ventricular tachycardia, polymorphic; Missense/nonsense CM045194; Ventricular tachycardia, polymorphic; Missense/nonsense CM010136; Ventricular tachycardia, polymorphic; Missense/nonsense CM056383; Ventricular tachycardia, polymorphic; Missense/nonsense CM091991; Catecholaminergic polymorphic ventricular tachycardia ?; Missense/nonsense CM087241; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM045196; Ventricular tachycardia, polymorphic; Missense/nonsense CM045195; Ventricular tachycardia, polymorphic; Missense/nonsense CM056389; Ventricular tachycardia, polymorphic; Missense/nonsense CM066994; Ventricular tachycardia, polymorphic; Missense/nonsense CM010419; Ventricular tachycardia, polymorphic; Missense/nonsense CM087242; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM010137; Ventricular tachycardia, polymorphic; Missense/nonsense CM043078; Ventricular tachycardia, polymorphic; Missense/nonsense HM030022; Ventricular tachycardia, polymorphic; Missense/nonsense CM043079; Ventricular tachycardia, polymorphic; Missense/nonsense CM056385; Ventricular tachycardia, polymorphic; Missense/nonsense HM030025; Ventricular tachycardia, polymorphic; Missense/nonsense CM087243; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM077626; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM010420; Ventricular tachycardia, polymorphic; Missense/nonsense CM087244; Catecholaminergic polymorphic ventricular tachycardia; Missense/nonsense CM043080; Ventricular tachycardia, polymorphic; Missense/nonsense CM024350; Ventricular tachycardia, polymorphic; Missense/nonsense CM043081; Ventricular tachycardia, polymorphic; Missense/nonsense CM071985; Ventricular tachycardia, polymorphic; Missense/nonsense CM024351; Ventricular tachycardia, polymorphic; Missense/nonsense CM024352; Ventricular tachycardia, polymorphic; Missense/nonsense HM030023; Ventricular tachycardia, polymorphic; Missense/nonsense CM024353; Ventricular tachycardia, polymorphic; Missense/nonsense CM033017; Ventricular tachycardia, polymorphic; Missense/nonsense CM024354; Ventricular tachycardia, polymorphic; Missense/nonsense CM033018; Ventricular tachycardia, polymorphic; Missense/nonsense
GWASdb (count: 109) (view all)	rs1881548; Body Mass Index; obesity rs1881548; Waist Circumference; obesity rs6678625; Multiple complex diseases; Null rs10925299; Suicide attempts in bipolar disorder; bipolar disorder rs4659488; Panic disorder; panic disorder rs4659488; Serum tamsulosin hydrochloride concentration; prostatic hypertrophy rs4659488; Coronary artery calcification; coronary artery disease rs1124814; Panic disorder; panic disorder rs1124814; Serum tamsulosin hydrochloride concentration; prostatic hypertrophy rs9428374; Urinary metabolites; kidney disease rs10802587; Multiple complex diseases; Null rs6428989; Urinary metabolites; kidney disease rs10925310; Glycosylated haemoglobin levels; cardiovascular system disease\|diabetes mellitus\|kidney disease\|retinal disease rs12131634; Lung function (forced vital capacity); lung disease rs16834810; Schizophrenia(age at onset); schizophrenia rs16834810; Stroke (ischemic); cerebrovascular disease rs7551249; Hemoglobin concentration; hemoglobinopathy rs6701985; Multiple complex diseases; Null rs7554607; Acute lymphoblastic leukemia (childhood); acute lymphocytic leukemia\|acute leukemia rs7554607; Nasopharyngeal carcinoma; nasopharynx carcinoma rs16834822; Schizophrenia(age at onset); schizophrenia rs16834824; Schizophrenia(age at onset); schizophrenia rs1980798; Glycemic traits (pregnancy); type 2 diabetes mellitus rs2485558; Psoriasis; psoriasis rs41454545; Multiple complex diseases; Null rs2485570; Narcolepsy; narcolepsy rs10754593; Asthma (childhood onset); asthma rs1106159; Obesity-related traits; obesity rs6668069; Obesity-related traits; obesity rs6683225; Obesity-related traits; obesity rs268786; Obesity-related traits; obesity rs187910; Obesity-related traits; obesity rs6683160; IgE levels in asthmatics; asthma rs679735; Serum metabolites; Null rs918241; Leukocyte Counts; leukemia\|lymphoma\|cardiovascular system disease rs10495392; Alcohol and nictotine co-dependence; alcohol dependence\|nicotine dependence rs4659491; Leukocyte Counts; leukemia\|lymphoma\|cardiovascular system disease rs11802494; Cognitive test performance; cognitive disorder rs12066348; Lipid levels; lipid metabolism disorder\|cardiovascular system disease\|obesity rs7514372; Response to taxane treatment (placlitaxel); lung cancer rs6670163; Type 2 diabetes; type 2 diabetes mellitus rs17682073; Coronary artery calcification; coronary artery disease rs10925402; Body mass index; obesity rs10925405; Response to antidepressants; mental depression\|antidepressant type abuse rs7537614; Urinary metabolites; kidney disease rs7529251; IgG glycosylation; hematologic cancer\|hypersensitivity reaction type II disease rs17633019; Atrial fibrillation; familial atrial fibrillation rs12087410; Malaria; malaria rs2100969; Serum metabolites; Null rs2100969; Response to taxane treatment (placlitaxel); lung cancer rs2086209; Response to taxane treatment (placlitaxel); lung cancer rs16835265; Cholesterol, total; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs4258212; Serum metabolites; Null rs4258212; Response to taxane treatment (placlitaxel); lung cancer rs3765097; Response to taxane treatment (placlitaxel); lung cancer rs2045955; Response to taxane treatment (placlitaxel); lung cancer rs11588591; Response to taxane treatment (placlitaxel); lung cancer rs1478912; Response to taxane treatment (docetaxel); lung cancer rs3753617; HDL particle features; cardiovascular system disease rs4436381; Response to taxane treatment (placlitaxel); lung cancer rs4329502; Response to taxane treatment (placlitaxel); lung cancer rs4397648; Response to taxane treatment (placlitaxel); lung cancer rs4625270; Response to taxane treatment (placlitaxel); lung cancer rs4329503; Response to taxane treatment (placlitaxel); lung cancer rs16835307; Multiple complex diseases; Null rs16835307; Blood pressure (response to angiotensin II receptor blocker); hypertension rs2805429; Personality dimensions; personality disorder rs2805434; Personality dimensions; personality disorder rs2805446; Orofacial clefts; orofacial cleft rs2805446; Intelligence (childhood); cognitive disorder rs10925451; Electrocardiographic conduction measures; heart conduction disease rs2257101; Insulin resistance; type 2 diabetes mellitus rs2257096; Suicide attempts in bipolar disorder; bipolar disorder rs2257096; Insulin resistance; type 2 diabetes mellitus rs2618672; Multiple complex diseases; Null rs2779383; Prostate cancer; prostate cancer rs3766851; Sleep duration; sleep disorder rs2127148; Multiple complex diseases; Null rs2805396; Sleep duration; sleep disorder rs6683048; Autism, gender differences; autism spectrum disorder rs7531957; Gains in maximal O2 uptake response; asthma\|chronic obstructive pulmonary disease rs939698; Cardiovascular disease; cardiovascular system disease rs476078; Major depressive disorder (broad); major depressive disorder rs10802626; Non-alcoholic fatty liver disease histology (other); fatty liver disease rs10925480; Major depressive disorder (broad); major depressive disorder rs7526807; Major depressive disorder (broad); major depressive disorder rs7538471; Major depressive disorder (broad); major depressive disorder rs1023214; Lung function (forced expiratory flow between 25% and 75% of forced vital capacity); lung disease rs10495399; LDL cholesterol; atherosclerosis\|coronary artery disease rs16835603; Cholesterol, total; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs3766882; Multiple complex diseases; Null rs1571980; LDL cholesterol; atherosclerosis\|coronary artery disease rs6657332; Response to platinum-based chemotherapy in non-small-cell lung cancer; non-small cell lung carcinoma rs876793; Lipid traits; lipid metabolism disorder\|cardiovascular system disease\|obesity rs12040571; Iron levels; iron metabolism disease rs10925500; Alzheimer's disease; Alzheimer's disease rs16835702; Lipid traits; lipid metabolism disorder\|cardiovascular system disease\|obesity rs16835705; Lipid traits; lipid metabolism disorder\|cardiovascular system disease\|obesity rs2685289; Triglycerides; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs2819770; Exercise treadmill test traits; cardiovascular system disease rs2056387; ECG dimensions, brachial artery endothelial function, treadmill exercise responses; cardiovascular system disease rs2056387; Breast cancer and prostate cancer; breast cancer\|prostate cancer rs2249287; Response to taxane treatment (placlitaxel); lung cancer rs12737847; Alcohol dependence; alcohol dependence rs2275690; Blood Pressure; hypertension rs12043362; Gallstones; cholecystolithiasis rs2819742; Response to cerivastatin; muscular disease rs2275692; Urinary metabolites; kidney disease rs16835894; Glycemic traits (pregnancy); type 2 diabetes mellitus

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 48) (view all)	1172 MVDMNEHTMMFTLNG dbPAF 1176 NEHTMMFTLNGEILL dbPAF 1317 CAEVFSKTVAGGLPG dbPAF 1427 LMQTSTYYYSVRIFP dbPAF 1428 MQTSTYYYSVRIFPG dbPAF 1483 VHESIKRSNCYMVCA dbPAF 1486 SIKRSNCYMVCAGES dbPAF 1944 QDNQRFRYNEVMQAL dbPAF 196 ERYLHLSYGNGSLHV dbPAF 2031 TIRGRLLSLVEKVTY dbPAF 2038 SLVEKVTYLKKKQAE dbPAF 2073 MVRWAQESVIEDPEL dbPAF 2202 NCCRFLCYFCRISRQ dbPAF 2276 LAGCGLQSCQMLVSK dbPAF 2282 QSCQMLVSKGYPDIG dbPAF 2363 DPSRDGPSPNSGSSK dbPAF 2519 MALALNRYLCTAVLP dbPAF 2522 ALNRYLCTAVLPLLT dbPAF 2529 TAVLPLLTRCAPLFA dbPAF 2751 GEIYSDSSKVQPLMK dbPAF 2781 PIKESLKTMLAWGWR dbPAF 2808 YNRTRRISQTSQVSV dbPAF 2814 ISQTSQVSVDAAHGY dbPAF 2923 SIEKRFAYSFLQQLI dbPAF 305 RHVTTGKYLSLMEDK dbPAF 307 VTTGKYLSLMEDKNL dbPAF 3285 GNILKIIYNNLGIDE dbPAF 3303 MKRLAVFSQPIINKV dbPAF 3367 TTLARDLYAFYPLLI dbPAF 3370 ARDLYAFYPLLIRFV dbPAF 3437 FLITDTKSKMSKAAV dbPAF 3459 MKRKGDRYSMQTSLI dbPAF 3497 ALAKNRFSLKDTEDE dbPAF 3501 NRFSLKDTEDEVRDI dbPAF 3751 ISASKGETGPMVAAT dbPAF 406 MDDGISLSRSQHEES dbPAF 4250 SALFALRYNILTLMR dbPAF 4254 ALRYNILTLMRMLSL dbPAF 4263 MRMLSLKSLKKQMKK dbPAF 4311 GFFRIICSLLLGGSL dbPAF 4317 CSLLLGGSLVEGAKK dbPAF 4391 LKREGGQYKLIPHNP dbPAF 4550 KVTSLDSSSHRIIAV dbPAF 4695 PKKDSSLSAVLNSID dbPAF 4705 LNSIDVKYQMWKLGV dbPAF 4944 ESYVWKMYQERCWEF dbPAF 823 PPGYAPCYEAVLPKE dbPAF 970 KMKLPKNYQLTSGYK dbPAF
Ubiquitination (count: 5)	2212 RISRQNQKAMFDHLS PLMD 3297 IDEGAWMKRLAVFSQ PLMD 3712 DDGEEEVKSFEEKEM PLMD 390 RMGSIQRKAIMHHEG PLMD 4805 DGDTPDMKCDDMLTC PLMD
Sumoylation (count: 1)	2608 EHAKMPLKLLTNHYE PLMD
Glycation (count: 2)	3455 ERKKMKRKGDRYSMQ PLMD 3471 SLIVAALKRLLPIGL PLMD
Methylation (count: 4)	2136 LLSVRMGKEEEKLMI PLMD 2140 RMGKEEEKLMIRGLG PLMD 3438 LITDTKSKMSKAAVS PLMD 3441 DTKSKMSKAAVSDQE PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

F5H146	Q92736	BioGRID
P02768	Q92736	IntAct;HPRD
P13569	Q92736	IntAct
P21817	Q92736	HPRD
P50748	Q92736	BioGRID
Q00987	Q92736	IntAct
Q02817	Q92736	BioGRID
Q92736	Q99717	HPRD; MINT