RYR2 - ryanodine receptor 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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6262 RYR2

基因描述

Type	Description
Definition	ryanodine receptor 2

研究结论

Date	Results	Publications
2021-04-03 13:38:00	Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.	31994352
2021-03-13 13:18:00	Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.	32899693
2021-03-13 13:17:00	The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability.	32878990
2021-02-13 13:25:00	Impact of NR5A2 and RYR2 3'UTR polymorphisms on the risk of breast cancer in a Chinese Han population.	32572717
2021-02-02 13:29:00	Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.	33315912

名称对应

Type	IDs
Synonymous	ARVC2, ARVD2, RYR-2, RyR, VTSIP
Gene	UniProtKB-ID: RYR2_HUMAN UniprotKB: Q92736 UniParc: UPI0001E24F4E, UPI0000DD0308 EMBL: AJ300426, AJ300428, AJ300344, AJ300342, AJ300348, AJ300442, AJ300407, AJ300350, AJ300399, AJ300400, AJ300373, AJ300413, AJ300391, AJ300377, AJ300430, AJ300438, AL359924, AJ300375, AJ300423, AJ300374, AJ300414, AJ300369, AJ300403, AJ300394, AJ300440, AJ300441, AJ300443, AJ300357, AJ300380, AJ300406, AJ300340, AJ300393, AJ300345, AJ300384, AJ300366, AJ300368, AJ300409, AJ300415, AJ300425, AL391809, AJ300360, AJ300362, AJ300427, AJ300356, AJ300364, AJ002511, AJ300416, AJ300358, AJ300439, AJ300437, AJ300412, AJ300420, AJ300370, AJ300392, AJ300444, AJ300376, AJ300351, AJ300371, AJ300395, AJ300359, AJ300410, AJ300381, AJ300419, AJ300424, AJ300389, AJ300382, AJ300361, AJ300404, AJ300378, AJ300354, AL442065, AJ300397, AJ300429, AJ300434, AJ300363, AJ300436, X91869, AJ300341, AJ300385, AJ300418, AJ300431, AJ300398, X98330, AJ300417, AJ300421, AJ300386, AJ300353, AJ300387, AJ300435, AJ300390, AJ300352, AJ300355, AJ300372, AL513130, AJ300433, Y08218, AJ300383, AJ300347, AJ300422, AJ300405, AJ300346, AJ300401, AJ300411, AL365332, AJ300396, AJ300408, AL445473, AJ300432, AJ300367, AL356773, AJ300343, AJ300402, AJ300388, AJ300365, AJ300379, AJ300349 Ensembl: ENSG00000198626 KO: hsa:6262
Nucleutide sequences	EMBL-CDS: CAA69395.1, CAI15350.1, CAA62975.1, CAH71393.1, CAC18855.1, CAI22065.1, CAA66975.1, CAH73918.1, CAH71369.1, CAA05502.1, CAI15936.1, CAI14440.1 Ensembl_TRS: ENST00000366574
Protein sequencees	Ensembl_PRO: ENSP00000355533 RefSeq: XP_006711865.1, XP_006711867.1, XP_016857517.1, XP_006711866.1, XP_006711869.1, NP_001026.2, XP_006711871.1, XP_006711868.1, XP_006711873.1, XP_006711870.1
Others	UniRef100: UniRef100_Q92736 UniRef90: UniRef90_Q92736 UniRef50: UniRef50_Q92736 UniGene: Hs.109514, Hs.738571 CCDS: CCDS55691.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32878990	The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability. J Biol Chem Wenting Guo , Bo Sun , John Paul Estillore , Ruiwu Wang , S R Wayne Chen	2020-11-13	-
32899693	Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives. Molecules Vladena BauerovÃ¡-HlinkovÃ¡ , Dominika HajdÃºchovÃ¡ , Jacob A Bauer	2020-09-04	-
32572717	Impact of NR5A2 and RYR2 3'UTR polymorphisms on the risk of breast cancer in a Chinese Han population. Breast Cancer Res Treat Ying Wei , Xiaolin Wang , Zhe Zhang , Changtao Zhao , Yuwei Chang , Zhiqing Bian , Xinhan Zhao	2020-08-01	-
32669538	Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-ÎºB/cyclin D1 pathway. Nat Commun Lin Mei , Yun-Min Zheng , Tengyao Song , Vishal R Yadav , Leroy C Joseph , Lillian Truong , Sharath Kandhi , Margarida M Barroso , Hiroshi Takeshima , Marc A Judson , Yong-Xiao Wang	2020-07-15	-
32152366	Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. J Hum Genet Damilola Olubando , Claire Hopton , James Eden , Richard Caswell , N Lowri Thomas , Stephen A Roberts , Deborah Morris-Rosendahl , Luigi Venetucci , William G Newman	2020-06-01	-
31994352	Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family. Mol Genet Genomic Med Matthew Tung , Filip Van Petegem , Samantha Lauson , Ashley Collier , Kathy Hodgkinson , Bridget Fernandez , Sean Connors , Rick Leather , Shubhayan Sanatani , Laura Arbour	2020-04-01	-
31913406	Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol David J Tester , Hannah M Bombei , Kristi K Fitzgerald , John R Giudicessi , Beth A Pitel , Erik C Thorland , Barbara G Russell , Samantha K Hamrick , C S John Kim , Carla M Haglund-Turnquist , Christopher L Johnsrude , Dianne L Atkins , Luis A Ochoa Nunez , Ian Law , Joel Temple , Michael J Ackerman	2020-03-01	-
31875585	Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation. Circ. J. Yoshihiro Nozaki , Yoshiaki Kato , Kiyoshi Uike , Kenichiro Yamamura , Masahiro Kikuchi , Maki Yasuda , Seiko Ohno , Minoru Horie , Takashi Murayama , Nagomi Kurebayashi , Hitoshi Horigome	2020-01-24	-
32612034	[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies]. Nihon Yakurigaku Zasshi Nagomi Kurebayashi , Takashi Murayama	2020-01-01	-
33315912	Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation. PLoS One Mikael Koponen , Annukka Marjamaa , Annukka M Tuiskula , Matti Viitasalo , Terhi Nallinmaa-Luoto , Jaakko T Leinonen , Elisabeth Widen , Lauri Toivonen , Kimmo Kontula , Heikki Swan	2020-01-01	-

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