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Ryanodine receptor 2

January 01, 1970

Ryanodine receptor 2 (RYR2) is one of a class of ryanodine receptors and a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.[5][6][7] In the process of cardiac calcium-induced calcium release, RYR2 is the major mediator for sarcoplasmic release of stored calcium ions.

RYR2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRYR2, ARVC2, ARVD2, RYR-2, RyR, VTSIP, ryanodine receptor 2, VACRDS
External IDsOMIM: 180902 MGI: 99685 HomoloGene: 37423 GeneCards: RYR2
Orthologs
SpeciesHumanMouse
Entrez

6262

20191

Ensembl

ENSG00000198626

ENSMUSG00000021313

UniProt

Q92736

E9Q401

RefSeq (mRNA)

NM_001035

NM_023868

RefSeq (protein)

NP_001026

NP_076357

Location (UCSC)Chr 1: 237.04 – 237.83 MbChr 13: 11.55 – 12.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structure edit

The channel is composed of RYR2 homotetramers and FK506-binding proteins found in a 1:4 stoichiometric ratio. Calcium channel function is affected by the specific type of FK506 isomer interacting with the RYR2 protein, due to binding differences and other factors.[8]

Function edit

The RYR2 protein functions as the major component of a calcium channel located in the sarcoplasmic reticulum that supplies ions to the cardiac muscle during systole. To enable cardiac muscle contraction, calcium influx through voltage-gated L-type calcium channels in the plasma membrane allows calcium ions to bind to RYR2 located on the sarcoplasmic reticulum. This binding causes the release of calcium through RYR2 from the sarcoplasmic reticulum into the cytosol, where it binds to the C domain of troponin, which shifts tropomyosin and allows the myosin ATPase to bind to actin, enabling cardiac muscle contraction.[9] RYR2 channels are associated with many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their role in cardiomyocyte contraction.[10]

Clinical significance edit

Deleterious mutations of the ryanodine receptor family, and especially the RYR2 receptor, lead to a constellation of pathologies leading to both acute and chronic heart failure collectively known as "Ryanopathies."[11]

Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia.[12]

Recently, sudden cardiac death in several young individuals in the Amish community (four of which were from the same family) was traced to homozygous duplication of a mutant RyR2 gene.[13] Normal (wild type) RyR2 functions primarily in the myocardium (heart muscle).

Mice with genetically reduced RYR2 exhibit a lower basal heart rate and fatal arrhythmias.[14]

Interactions edit

Ryanodine receptor 2 has been shown to interact with:

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198626 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021313 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (August 1990). "Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum". The Journal of Biological Chemistry. 265 (23): 13472–83. doi:10.1016/S0021-9258(18)77371-7. PMID 2380170.
  6. ^ Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC, MacLennan DH (August 1993). "Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes". Genomics. 17 (2): 507–9. doi:10.1006/geno.1993.1357. PMID 8406504.
  7. ^ Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. (February 2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Human Molecular Genetics. 10 (3): 189–94. doi:10.1093/hmg/10.3.189. PMID 11159936.
  8. ^ Guo T, Cornea RL, Huke S, Camors E, Yang Y, Picht E, et al. (June 2010). "Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks". Circulation Research. 106 (11): 1743–52. doi:10.1161/CIRCRESAHA.110.219816. PMC 2895429. PMID 20431056.
  9. ^ "Q92736 - RYR2_HUMAN".
  10. ^ Bround MJ, Wambolt R, Luciani DS, Kulpa JE, Rodrigues B, Brownsey RW, et al. (June 2013). "Cardiomyocyte ATP production, metabolic flexibility, and survival require calcium flux through cardiac ryanodine receptors in vivo". The Journal of Biological Chemistry. 288 (26): 18975–86. doi:10.1074/jbc.M112.427062. PMC 3696672. PMID 23678000.
  11. ^ Belevych AE, Radwański PB, Carnes CA, Györke S (May 2013). "'Ryanopathy': causes and manifestations of RyR2 dysfunction in heart failure". Cardiovascular Research. 98 (2): 240–7. doi:10.1093/cvr/cvt024. PMC 3633158. PMID 23408344.
  12. ^ "Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)".
  13. ^ Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, et al. (January 2020). "Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community". JAMA Cardiology. 5 (3): 13–18. doi:10.1001/jamacardio.2019.5400. PMC 6990654. PMID 31913406.
  14. ^ Bround MJ, Asghari P, Wambolt RB, Bohunek L, Smits C, Philit M, et al. (December 2012). "Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice". Cardiovascular Research. 96 (3): 372–80. doi:10.1093/cvr/cvs260. PMC 3500041. PMID 22869620.
  15. ^ a b c d Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR (May 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell. 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8. PMID 10830164. S2CID 6496567.
  16. ^ Marx SO, Reiken S, Hisamatsu Y, Gaburjakova M, Gaburjakova J, Yang YM, et al. (May 2001). "Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippers". The Journal of Cell Biology. 153 (4): 699–708. doi:10.1083/jcb.153.4.699. PMC 2192391. PMID 11352932.
  17. ^ Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW, Fishman GI (November 1995). "Association of sorcin with the cardiac ryanodine receptor". The Journal of Biological Chemistry. 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. PMID 7592856.

Further reading edit

  • Ogawa Y, Kurebayashi N, Murayama T (1999). "Ryanodine receptor isoforms in excitation-contraction coupling". Advances in Biophysics. 36: 27–64. doi:10.1016/S0065-227X(99)80004-5. PMID 10463072.
  • Marks AR, Priori S, Memmi M, Kontula K, Laitinen PJ (January 2002). "Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia". Journal of Cellular Physiology. 190 (1): 1–6. doi:10.1002/jcp.10031. PMID 11807805.
  • Marks AR (April 2002). "Ryanodine receptors, FKBP12, and heart failure". Frontiers in Bioscience. 7 (1–3): d970-7. doi:10.2741/marks. PMID 11897558.
  • Danieli GA, Rampazzo A (May 2002). "Genetics of arrhythmogenic right ventricular cardiomyopathy". Current Opinion in Cardiology. 17 (3): 218–21. doi:10.1097/00001573-200205000-00002. PMID 12015469.
  • Ma J, Hayek SM, Bhat MB (2005). "Membrane topology and membrane retention of the ryanodine receptor calcium release channel". Cell Biochemistry and Biophysics. 40 (2): 207–24. doi:10.1385/CBB:40:2:207. PMID 15054223. S2CID 25375622.
  • Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW, Fishman GI (November 1995). "Association of sorcin with the cardiac ryanodine receptor". The Journal of Biological Chemistry. 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. PMID 7592856.
  • Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, et al. (November 1995). "A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43" (PDF). Human Molecular Genetics. 4 (11): 2151–4. doi:10.1093/hmg/4.11.2151. PMID 8589694.
  • Tunwell RE, Wickenden C, Bertrand BM, Shevchenko VI, Walsh MB, Allen PD, Lai FA (September 1996). "The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis". The Biochemical Journal. 318 (Pt 2): 477–87. doi:10.1042/bj3180477. PMC 1217646. PMID 8809036.
  • Awad SS, Lamb HK, Morgan JM, Dunlop W, Gillespie JI (March 1997). "Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium". The Biochemical Journal. 322 (Pt 3): 777–83. doi:10.1042/bj3220777. PMC 1218255. PMID 9148749.
  • Martin C, Chapman KE, Seckl JR, Ashley RH (July 1998). "Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum". Neuroscience. 85 (1): 205–16. doi:10.1016/S0306-4522(97)00612-X. PMID 9607712. S2CID 25634042.
  • Chambers P, Neal DE, Gillespie JI (January 1999). "Ryanodine receptors in human bladder smooth muscle". Experimental Physiology. 84 (1): 41–6. doi:10.1111/j.1469-445x.1999.tb00070.x. PMID 10081705.
  • Mori F, Fukaya M, Abe H, Wakabayashi K, Watanabe M (May 2000). "Developmental changes in expression of the three ryanodine receptor mRNAs in the mouse brain". Neuroscience Letters. 285 (1): 57–60. doi:10.1016/S0304-3940(00)01046-6. PMID 10788707. S2CID 32514035.
  • Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR (May 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell. 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8. PMID 10830164. S2CID 6496567.
  • Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. (January 2001). "Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia". Circulation. 103 (4): 485–90. doi:10.1161/01.cir.103.4.485. PMID 11157710.
  • Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. (January 2001). "Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia". Circulation. 103 (2): 196–200. doi:10.1161/01.cir.103.2.196. PMID 11208676.
  • Jeyakumar LH, Ballester L, Cheng DS, McIntyre JO, Chang P, Olivey HE, et al. (March 2001). "FKBP binding characteristics of cardiac microsomes from diverse vertebrates". Biochemical and Biophysical Research Communications. 281 (4): 979–86. doi:10.1006/bbrc.2001.4444. PMID 11237759.

External links edit

  • GeneReviews/NCBI/NIH/UW entry on Catecholaminergic Polymorphic Ventricular Tachycardia
  • GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
  • OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
  • RYR2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

January 01, 1970
ryanodine, receptor, ryr2, class, ryanodine, receptors, protein, found, primarily, cardiac, muscle, humans, encoded, ryr2, gene, process, cardiac, calcium, induced, calcium, release, ryr2, major, mediator, sarcoplasmic, release, stored, calcium, ions, ryr2avai. Ryanodine receptor 2 RYR2 is one of a class of ryanodine receptors and a protein found primarily in cardiac muscle In humans it is encoded by the RYR2 gene 5 6 7 In the process of cardiac calcium induced calcium release RYR2 is the major mediator for sarcoplasmic release of stored calcium ions RYR2Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4JKQIdentifiersAliasesRYR2 ARVC2 ARVD2 RYR 2 RyR VTSIP ryanodine receptor 2 VACRDSExternal IDsOMIM 180902 MGI 99685 HomoloGene 37423 GeneCards RYR2Gene location Human Chr Chromosome 1 human 1 Band1q43Start237 042 184 bp 1 End237 833 988 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 A1 13 4 38 cMStart11 553 102 bp 2 End12 106 945 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright ventricleendothelial cellBrodmann area 23vena cavaright coronary arteryorbitofrontal cortexpostcentral gyruspopliteal arterysuperior frontal gyrusmiddle temporal gyrusTop expressed inmyocardium of ventricleright ventricleinterventricular septumatriumatrioventricular valvedentate gyrusprimary motor cortexcingulate gyrusprefrontal cortexhippocampus properMore reference expression dataBioGPSn aGene ontologyMolecular functiontransmembrane transporter binding calcium channel activity calcium induced calcium release activity protein kinase A catalytic subunit binding organic cyclic compound binding protein self association ion channel activity protein binding identical protein binding enzyme binding suramin binding protein kinase A regulatory subunit binding protein kinase binding calcium release channel activity ryanodine sensitive calcium release channel activity calcium ion binding calmodulin bindingCellular componentintegral component of membrane calcium channel complex membrane sarcomere junctional sarcoplasmic reticulum membrane sarcoplasmic reticulum Z disc sarcoplasmic reticulum membrane smooth endoplasmic reticulum plasma membrane protein containing complex cytoplasmic vesicle membrane sarcolemmaBiological processresponse to muscle stretch release of sequestered calcium ion into cytosol calcium ion transport into cytosol regulation of cardiac conduction regulation of cardiac muscle contraction by calcium ion signaling release of sequestered calcium ion into cytosol by sarcoplasmic reticulum response to hypoxia cardiac muscle contraction regulation of cytosolic calcium ion concentration positive regulation of the force of heart contraction regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion cardiac muscle hypertrophy ventricular cardiac muscle cell action potential cell communication by electrical coupling involved in cardiac conduction cellular calcium ion homeostasis establishment of protein localization to endoplasmic reticulum ion transport BMP signaling pathway left ventricular cardiac muscle tissue morphogenesis regulation of heart rate positive regulation of heart rate detection of calcium ion response to redox state cellular response to epinephrine stimulus multicellular organism development ion transmembrane transport positive regulation of sequestering of calcium ion embryonic heart tube morphogenesis calcium ion transmembrane transport cellular response to caffeine sarcoplasmic reticulum calcium ion transport canonical Wnt signaling pathway regulation of SA node cell action potential response to caffeine regulation of cardiac muscle contraction regulation of ventricular cardiac muscle cell action potential regulation of AV node cell action potential calcium mediated signaling using intracellular calcium source response to muscle activity calcium ion transport calcium mediated signaling type B pancreatic cell apoptotic process regulation of atrial cardiac muscle cell action potential positive regulation of ATPase coupled calcium transmembrane transporter activity Purkinje myocyte to ventricular cardiac muscle cell signaling transmembrane transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez626220191EnsemblENSG00000198626ENSMUSG00000021313UniProtQ92736E9Q401RefSeq mRNA NM 001035NM 023868RefSeq protein NP 001026NP 076357Location UCSC Chr 1 237 04 237 83 MbChr 13 11 55 12 11 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical significance 4 Interactions 5 See also 6 References 7 Further reading 8 External linksStructure editThe channel is composed of RYR2 homotetramers and FK506 binding proteins found in a 1 4 stoichiometric ratio Calcium channel function is affected by the specific type of FK506 isomer interacting with the RYR2 protein due to binding differences and other factors 8 Function editThe RYR2 protein functions as the major component of a calcium channel located in the sarcoplasmic reticulum that supplies ions to the cardiac muscle during systole To enable cardiac muscle contraction calcium influx through voltage gated L type calcium channels in the plasma membrane allows calcium ions to bind to RYR2 located on the sarcoplasmic reticulum This binding causes the release of calcium through RYR2 from the sarcoplasmic reticulum into the cytosol where it binds to the C domain of troponin which shifts tropomyosin and allows the myosin ATPase to bind to actin enabling cardiac muscle contraction 9 RYR2 channels are associated with many cellular functions including mitochondrial metabolism gene expression and cell survival in addition to their role in cardiomyocyte contraction 10 Clinical significance editDeleterious mutations of the ryanodine receptor family and especially the RYR2 receptor lead to a constellation of pathologies leading to both acute and chronic heart failure collectively known as Ryanopathies 11 Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia 12 Recently sudden cardiac death in several young individuals in the Amish community four of which were from the same family was traced to homozygous duplication of a mutant RyR2 gene 13 Normal wild type RyR2 functions primarily in the myocardium heart muscle Mice with genetically reduced RYR2 exhibit a lower basal heart rate and fatal arrhythmias 14 Interactions editRyanodine receptor 2 has been shown to interact with AKAP6 15 16 PRKACA 15 PRKACB 15 PRKACG 15 and SRI 17 See also editRyanodine receptorReferences edit a b c GRCh38 Ensembl release 89 ENSG00000198626 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000021313 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Otsu K Willard HF Khanna VK Zorzato F Green NM MacLennan DH August 1990 Molecular cloning of cDNA encoding the Ca2 release channel ryanodine receptor of rabbit cardiac muscle sarcoplasmic reticulum The Journal of Biological Chemistry 265 23 13472 83 doi 10 1016 S0021 9258 18 77371 7 PMID 2380170 Otsu K Fujii J Periasamy M Difilippantonio M Uppender M Ward DC MacLennan DH August 1993 Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes Genomics 17 2 507 9 doi 10 1006 geno 1993 1357 PMID 8406504 Tiso N Stephan DA Nava A Bagattin A Devaney JM Stanchi F et al February 2001 Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 ARVD2 Human Molecular Genetics 10 3 189 94 doi 10 1093 hmg 10 3 189 PMID 11159936 Guo T Cornea RL Huke S Camors E Yang Y Picht E et al June 2010 Kinetics of FKBP12 6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks Circulation Research 106 11 1743 52 doi 10 1161 CIRCRESAHA 110 219816 PMC 2895429 PMID 20431056 Q92736 RYR2 HUMAN Bround MJ Wambolt R Luciani DS Kulpa JE Rodrigues B Brownsey RW et al June 2013 Cardiomyocyte ATP production metabolic flexibility and survival require calcium flux through cardiac ryanodine receptors in vivo The Journal of Biological Chemistry 288 26 18975 86 doi 10 1074 jbc M112 427062 PMC 3696672 PMID 23678000 Belevych AE Radwanski PB Carnes CA Gyorke S May 2013 Ryanopathy causes and manifestations of RyR2 dysfunction in heart failure Cardiovascular Research 98 2 240 7 doi 10 1093 cvr cvt024 PMC 3633158 PMID 23408344 Entrez Gene RYR2 ryanodine receptor 2 cardiac Tester DJ Bombei HM Fitzgerald KK Giudicessi JR Pitel BA Thorland EC et al January 2020 Identification of a Novel Homozygous Multi Exon Duplication in RYR2 Among Children With Exertion Related Unexplained Sudden Deaths in the Amish Community JAMA Cardiology 5 3 13 18 doi 10 1001 jamacardio 2019 5400 PMC 6990654 PMID 31913406 Bround MJ Asghari P Wambolt RB Bohunek L Smits C Philit M et al December 2012 Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice Cardiovascular Research 96 3 372 80 doi 10 1093 cvr cvs260 PMC 3500041 PMID 22869620 a b c d Marx SO Reiken S Hisamatsu Y Jayaraman T Burkhoff D Rosemblit N Marks AR May 2000 PKA phosphorylation dissociates FKBP12 6 from the calcium release channel ryanodine receptor defective regulation in failing hearts Cell 101 4 365 76 doi 10 1016 S0092 8674 00 80847 8 PMID 10830164 S2CID 6496567 Marx SO Reiken S Hisamatsu Y Gaburjakova M Gaburjakova J Yang YM et al May 2001 Phosphorylation dependent regulation of ryanodine receptors a novel role for leucine isoleucine zippers The Journal of Cell Biology 153 4 699 708 doi 10 1083 jcb 153 4 699 PMC 2192391 PMID 11352932 Meyers MB Pickel VM Sheu SS Sharma VK Scotto KW Fishman GI November 1995 Association of sorcin with the cardiac ryanodine receptor The Journal of Biological Chemistry 270 44 26411 8 doi 10 1074 jbc 270 44 26411 PMID 7592856 Further reading editOgawa Y Kurebayashi N Murayama T 1999 Ryanodine receptor isoforms in excitation contraction coupling Advances in Biophysics 36 27 64 doi 10 1016 S0065 227X 99 80004 5 PMID 10463072 Marks AR Priori S Memmi M Kontula K Laitinen PJ January 2002 Involvement of the cardiac ryanodine receptor calcium release channel in catecholaminergic polymorphic ventricular tachycardia Journal of Cellular Physiology 190 1 1 6 doi 10 1002 jcp 10031 PMID 11807805 Marks AR April 2002 Ryanodine receptors FKBP12 and heart failure Frontiers in Bioscience 7 1 3 d970 7 doi 10 2741 marks PMID 11897558 Danieli GA Rampazzo A May 2002 Genetics of arrhythmogenic right ventricular cardiomyopathy Current Opinion in Cardiology 17 3 218 21 doi 10 1097 00001573 200205000 00002 PMID 12015469 Ma J Hayek SM Bhat MB 2005 Membrane topology and membrane retention of the ryanodine receptor calcium release channel Cell Biochemistry and Biophysics 40 2 207 24 doi 10 1385 CBB 40 2 207 PMID 15054223 S2CID 25375622 Meyers MB Pickel VM Sheu SS Sharma VK Scotto KW Fishman GI November 1995 Association of sorcin with the cardiac ryanodine receptor The Journal of Biological Chemistry 270 44 26411 8 doi 10 1074 jbc 270 44 26411 PMID 7592856 Rampazzo A Nava A Erne P Eberhard M Vian E Slomp P et al November 1995 A new locus for arrhythmogenic right ventricular cardiomyopathy ARVD2 maps to chromosome 1q42 q43 PDF Human Molecular Genetics 4 11 2151 4 doi 10 1093 hmg 4 11 2151 PMID 8589694 Tunwell RE Wickenden C Bertrand BM Shevchenko VI Walsh MB Allen PD Lai FA September 1996 The human cardiac muscle ryanodine receptor calcium release channel identification primary structure and topological analysis The Biochemical Journal 318 Pt 2 477 87 doi 10 1042 bj3180477 PMC 1217646 PMID 8809036 Awad SS Lamb HK Morgan JM Dunlop W Gillespie JI March 1997 Differential expression of ryanodine receptor RyR2 mRNA in the non pregnant and pregnant human myometrium The Biochemical Journal 322 Pt 3 777 83 doi 10 1042 bj3220777 PMC 1218255 PMID 9148749 Martin C Chapman KE Seckl JR Ashley RH July 1998 Partial cloning and differential expression of ryanodine receptor calcium release channel genes in human tissues including the hippocampus and cerebellum Neuroscience 85 1 205 16 doi 10 1016 S0306 4522 97 00612 X PMID 9607712 S2CID 25634042 Chambers P Neal DE Gillespie JI January 1999 Ryanodine receptors in human bladder smooth muscle Experimental Physiology 84 1 41 6 doi 10 1111 j 1469 445x 1999 tb00070 x PMID 10081705 Mori F Fukaya M Abe H Wakabayashi K Watanabe M May 2000 Developmental changes in expression of the three ryanodine receptor mRNAs in the mouse brain Neuroscience Letters 285 1 57 60 doi 10 1016 S0304 3940 00 01046 6 PMID 10788707 S2CID 32514035 Marx SO Reiken S Hisamatsu Y Jayaraman T Burkhoff D Rosemblit N Marks AR May 2000 PKA phosphorylation dissociates FKBP12 6 from the calcium release channel ryanodine receptor defective regulation in failing hearts Cell 101 4 365 76 doi 10 1016 S0092 8674 00 80847 8 PMID 10830164 S2CID 6496567 Laitinen PJ Brown KM Piippo K Swan H Devaney JM Brahmbhatt B et al January 2001 Mutations of the cardiac ryanodine receptor RyR2 gene in familial polymorphic ventricular tachycardia Circulation 103 4 485 90 doi 10 1161 01 cir 103 4 485 PMID 11157710 Priori SG Napolitano C Tiso N Memmi M Vignati G Bloise R et al January 2001 Mutations in the cardiac ryanodine receptor gene hRyR2 underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2 196 200 doi 10 1161 01 cir 103 2 196 PMID 11208676 Jeyakumar LH Ballester L Cheng DS McIntyre JO Chang P Olivey HE et al March 2001 FKBP binding characteristics of cardiac microsomes from diverse vertebrates Biochemical and Biophysical Research Communications 281 4 979 86 doi 10 1006 bbrc 2001 4444 PMID 11237759 External links editGeneReviews NCBI NIH UW entry on Catecholaminergic Polymorphic Ventricular Tachycardia GeneReviews NCBI NIH UW entry on Arrhythmogenic Right Ventricular Dysplasia Cardiomyopathy Autosomal Dominant OMIM entries on Arrhythmogenic Right Ventricular Dysplasia Cardiomyopathy Autosomal Dominant RYR2 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Retrieved from https en wikipedia org w index php title Ryanodine receptor 2 amp oldid 1189407554, wikipedia, wiki, book, books, library,

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