Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
pig, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7493396 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2023-06-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610528 |
Pattern: |
Regionally restricted |
Stage: |
TS28 |
Assay Id: |
MGI:7493448 |
Age: |
postnatal adult |
Image: |
4K RyR2 |
Note: |
Very slight enhanced expression in outer epicardial region. |
Specimen Label: |
4K RyR2 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lascano E |
Year: |
2017 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
Impact of RyR2 potentiation on myocardial function. |
Volume: |
312 |
Issue: |
6 |
Pages: |
H1105-H1109 |
|
•
•
•
•
•
|
Publication |
First Author: |
Respress JL |
Year: |
2012 |
Journal: |
Circ Res |
Title: |
Role of RyR2 phosphorylation at S2814 during heart failure progression. |
Volume: |
110 |
Issue: |
11 |
Pages: |
1474-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pan X |
Year: |
2018 |
Journal: |
Circ Res |
Title: |
In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia. |
Volume: |
123 |
Issue: |
8 |
Pages: |
953-963 |
|
•
•
•
•
•
|
Publication |
First Author: |
Campbell HM |
Year: |
2020 |
Journal: |
Circulation |
Title: |
Loss of SPEG Inhibitory Phosphorylation of RyR2 Promotes Atrial Fibrillation. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Fauconnier J |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy. |
Volume: |
107 |
Issue: |
4 |
Pages: |
1559-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sarma S |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Genetic inhibition of PKA phosphorylation of RyR2 prevents dystrophic cardiomyopathy. |
Volume: |
107 |
Issue: |
29 |
Pages: |
13165-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Johnson JD |
Year: |
2004 |
Journal: |
J Biol Chem |
Title: |
RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets. |
Volume: |
279 |
Issue: |
23 |
Pages: |
24794-802 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yao J |
Year: |
2020 |
Journal: |
Cell Rep |
Title: |
Limiting RyR2 Open Time Prevents Alzheimer's Disease-Related Neuronal Hyperactivity and Memory Loss but Not β-Amyloid Accumulation. |
Volume: |
32 |
Issue: |
12 |
Pages: |
108169 |
|
•
•
•
•
•
|
Publication |
First Author: |
Aiba I |
Year: |
2016 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. |
Volume: |
113 |
Issue: |
33 |
Pages: |
E4895-903 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu N |
Year: |
2006 |
Journal: |
Circ Res |
Title: |
Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. |
Volume: |
99 |
Issue: |
3 |
Pages: |
292-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roussel J |
Year: |
2015 |
Journal: |
Biochim Biophys Acta |
Title: |
Palmitoyl-carnitine increases RyR2 oxidation and sarcoplasmic reticulum Ca2+ leak in cardiomyocytes: Role of adenine nucleotide translocase. |
Volume: |
1852 |
Issue: |
5 |
Pages: |
749-58 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Q |
Year: |
2015 |
Journal: |
J Mol Cell Cardiol |
Title: |
Crosstalk between RyR2 oxidation and phosphorylation contributes to cardiac dysfunction in mice with Duchenne muscular dystrophy. |
Volume: |
89 |
Issue: |
Pt B |
Pages: |
177-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kang G |
Year: |
2010 |
Journal: |
Circ Res |
Title: |
Purkinje cells from RyR2 mutant mice are highly arrhythmogenic but responsive to targeted therapy. |
Volume: |
107 |
Issue: |
4 |
Pages: |
512-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fukuda M |
Year: |
2014 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Enhanced binding of calmodulin to RyR2 corrects arrhythmogenic channel disorder in CPVT-associated myocytes. |
Volume: |
448 |
Issue: |
1 |
Pages: |
1-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ji G |
Year: |
2004 |
Journal: |
J Gen Physiol |
Title: |
RYR2 proteins contribute to the formation of Ca(2+) sparks in smooth muscle. |
Volume: |
123 |
Issue: |
4 |
Pages: |
377-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mazzocchi G |
Year: |
2016 |
Journal: |
J Physiol |
Title: |
Phospholamban ablation rescues the enhanced propensity to arrhythmias of mice with CaMKII-constitutive phosphorylation of RyR2 at site S2814. |
Volume: |
594 |
Issue: |
11 |
Pages: |
3005-30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li N |
Year: |
2012 |
Journal: |
Circ Res |
Title: |
Inhibition of CaMKII phosphorylation of RyR2 prevents induction of atrial fibrillation in FKBP12.6 knockout mice. |
Volume: |
110 |
Issue: |
3 |
Pages: |
465-70 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brunello L |
Year: |
2013 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Decreased RyR2 refractoriness determines myocardial synchronization of aberrant Ca2+ release in a genetic model of arrhythmia. |
Volume: |
110 |
Issue: |
25 |
Pages: |
10312-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sadredini M |
Year: |
2021 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
CaMKII inhibition has dual effects on spontaneous Ca2+ release and Ca2+ alternans in ventricular cardiomyocytes from mice with a gain-of-function RyR2 mutation. |
Volume: |
321 |
Issue: |
2 |
Pages: |
H446-H460 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jiang D |
Year: |
2005 |
Journal: |
Circ Res |
Title: |
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. |
Volume: |
97 |
Issue: |
11 |
Pages: |
1173-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Okuda S |
Year: |
2018 |
Journal: |
Biochem Biophys Res Commun |
Title: |
CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca2+ release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy. |
Volume: |
496 |
Issue: |
4 |
Pages: |
1250-1256 |
|
•
•
•
•
•
|
Allele |
Name: |
ryanodine receptor 2, cardiac; targeted mutation 1.1, Masafumi Yano |
Allele Type: |
Targeted |
Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1020
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Sun B |
Year: |
2021 |
Journal: |
Sci Transl Med |
Title: |
Cardiac ryanodine receptor calcium release deficiency syndrome. |
Volume: |
13 |
Issue: |
579 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Pontes R |
Year: |
2018 |
Journal: |
MGI Direct Data Submission |
Title: |
Mutagenetix entry for arruda2. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Pontes R |
Year: |
2018 |
Journal: |
MGI Direct Data Submission |
Title: |
Mutagenetix entry for arruda3. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Teixeira S |
Year: |
2018 |
Journal: |
MGI Direct Data Submission |
Title: |
Mutagenetix entry for Arruda. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bertan F |
Year: |
2020 |
Journal: |
Cell Death Differ |
Title: |
Loss of Ryanodine Receptor 2 impairs neuronal activity-dependent remodeling of dendritic spines and triggers compensatory neuronal hyperexcitability. |
Volume: |
27 |
Issue: |
12 |
Pages: |
3354-3373 |
|
•
•
•
•
•
|
Publication |
First Author: |
Min CK |
Year: |
2012 |
Journal: |
Biochem J |
Title: |
Coupling of ryanodine receptor 2 and voltage-dependent anion channel 2 is essential for Ca²+ transfer from the sarcoplasmic reticulum to the mitochondria in the heart. |
Volume: |
447 |
Issue: |
3 |
Pages: |
371-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ziviani E |
Year: |
2011 |
Journal: |
EMBO J |
Title: |
Ryanodine receptor-2 upregulation and nicotine-mediated plasticity. |
Volume: |
30 |
Issue: |
1 |
Pages: |
194-204 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mei L |
Year: |
2020 |
Journal: |
Nat Commun |
Title: |
Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-κB/cyclin D1 pathway. |
Volume: |
11 |
Issue: |
1 |
Pages: |
3527 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wehrens XH |
Year: |
2003 |
Journal: |
Cell |
Title: |
FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. |
Volume: |
113 |
Issue: |
7 |
Pages: |
829-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lehnart SE |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Stabilization of cardiac ryanodine receptor prevents intracellular calcium leak and arrhythmias. |
Volume: |
103 |
Issue: |
20 |
Pages: |
7906-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
van Oort RJ |
Year: |
2010 |
Journal: |
Circulation |
Title: |
Ryanodine receptor phosphorylation by calcium/calmodulin-dependent protein kinase II promotes life-threatening ventricular arrhythmias in mice with heart failure. |
Volume: |
122 |
Issue: |
25 |
Pages: |
2669-79 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chakraborty A |
Year: |
2014 |
Journal: |
PLoS One |
Title: |
Inhibition of CaMKII does not attenuate cardiac hypertrophy in mice with dysfunctional ryanodine receptor. |
Volume: |
9 |
Issue: |
8 |
Pages: |
e104338 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhao YT |
Year: |
2015 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function. |
Volume: |
112 |
Issue: |
13 |
Pages: |
E1669-77 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lavorato M |
Year: |
2017 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Increased mitochondrial nanotunneling activity, induced by calcium imbalance, affects intermitochondrial matrix exchanges. |
Volume: |
114 |
Issue: |
5 |
Pages: |
E849-E858 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hiess F |
Year: |
2015 |
Journal: |
J Biol Chem |
Title: |
Distribution and Function of Cardiac Ryanodine Receptor Clusters in Live Ventricular Myocytes. |
Volume: |
290 |
Issue: |
33 |
Pages: |
20477-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhong X |
Year: |
2018 |
Journal: |
Biochem J |
Title: |
Reduced expression of cardiac ryanodine receptor protects against stress-induced ventricular tachyarrhythmia, but increases the susceptibility to cardiac alternans. |
Volume: |
475 |
Issue: |
1 |
Pages: |
169-183 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kannankeril PJ |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. |
Volume: |
103 |
Issue: |
32 |
Pages: |
12179-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mathur N |
Year: |
2009 |
Journal: |
Circ Arrhythm Electrophysiol |
Title: |
Sudden infant death syndrome in mice with an inherited mutation in RyR2. |
Volume: |
2 |
Issue: |
6 |
Pages: |
677-85 |
|
•
•
•
•
•
|
Publication |
First Author: |
van Oort RJ |
Year: |
2010 |
Journal: |
Hypertension |
Title: |
Accelerated development of pressure overload-induced cardiac hypertrophy and dysfunction in an RyR2-R176Q knockin mouse model. |
Volume: |
55 |
Issue: |
4 |
Pages: |
932-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nakamura Y |
Year: |
2019 |
Journal: |
JCI Insight |
Title: |
Ryanodine receptor-bound calmodulin is essential to protect against catecholaminergic polymorphic ventricular tachycardia. |
Volume: |
4 |
Issue: |
11 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Cerrone M |
Year: |
2005 |
Journal: |
Circ Res |
Title: |
Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. |
Volume: |
96 |
Issue: |
10 |
Pages: |
e77-82 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kashimura T |
Year: |
2010 |
Journal: |
Circ Res |
Title: |
In the RyR2(R4496C) mouse model of CPVT, β-adrenergic stimulation induces Ca waves by increasing SR Ca content and not by decreasing the threshold for Ca waves. |
Volume: |
107 |
Issue: |
12 |
Pages: |
1483-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sedej S |
Year: |
2010 |
Journal: |
Cardiovasc Res |
Title: |
Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation. |
Volume: |
87 |
Issue: |
1 |
Pages: |
50-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fernández-Velasco M |
Year: |
2009 |
Journal: |
Circ Res |
Title: |
Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. |
Volume: |
104 |
Issue: |
2 |
Pages: |
201-9, 12p following 209 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sedej S |
Year: |
2014 |
Journal: |
J Am Coll Cardiol |
Title: |
Subclinical abnormalities in sarcoplasmic reticulum Ca(2+) release promote eccentric myocardial remodeling and pump failure death in response to pressure overload. |
Volume: |
63 |
Issue: |
15 |
Pages: |
1569-79 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wehrens XH |
Year: |
2006 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Ryanodine receptor/calcium release channel PKA phosphorylation: a critical mediator of heart failure progression. |
Volume: |
103 |
Issue: |
3 |
Pages: |
511-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shan J |
Year: |
2010 |
Journal: |
J Clin Invest |
Title: |
Phosphorylation of the ryanodine receptor mediates the cardiac fight or flight response in mice. |
Volume: |
120 |
Issue: |
12 |
Pages: |
4388-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shan J |
Year: |
2010 |
Journal: |
J Clin Invest |
Title: |
Role of chronic ryanodine receptor phosphorylation in heart failure and β-adrenergic receptor blockade in mice. |
Volume: |
120 |
Issue: |
12 |
Pages: |
4375-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lehnart SE |
Year: |
2008 |
Journal: |
J Clin Invest |
Title: |
Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. |
Volume: |
118 |
Issue: |
6 |
Pages: |
2230-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Manotheepan R |
Year: |
2016 |
Journal: |
Cardiovasc Res |
Title: |
Exercise training prevents ventricular tachycardia in CPVT1 due to reduced CaMKII-dependent arrhythmogenic Ca2+ release. |
Volume: |
111 |
Issue: |
3 |
Pages: |
295-306 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wegener JW |
Year: |
2024 |
Journal: |
Life Sci Alliance |
Title: |
A dual-targeted drug inhibits cardiac ryanodine receptor Ca(2+) leak but activates SERCA2a Ca(2+) uptake. |
Volume: |
7 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mohamed BA |
Year: |
2018 |
Journal: |
Sci Transl Med |
Title: |
Sarcoplasmic reticulum calcium leak contributes to arrhythmia but not to heart failure progression. |
Volume: |
10 |
Issue: |
458 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wegener JW |
Year: |
2021 |
Journal: |
Front Physiol |
Title: |
The RyR2-R2474S Mutation Sensitizes Cardiomyocytes and Hearts to Catecholaminergic Stress-Induced Oxidation of the Mitochondrial Glutathione Pool. |
Volume: |
12 |
|
Pages: |
777770 |
|
•
•
•
•
•
|
Publication |
First Author: |
Nishio H |
Year: |
2014 |
Journal: |
Leg Med (Tokyo) |
Title: |
Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model. |
Volume: |
16 |
Issue: |
6 |
Pages: |
326-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamaguchi N |
Year: |
2013 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
Cardiac hypertrophy associated with impaired regulation of cardiac ryanodine receptor by calmodulin and S100A1. |
Volume: |
305 |
Issue: |
1 |
Pages: |
H86-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Goddard CA |
Year: |
2008 |
Journal: |
Acta Physiol (Oxf) |
Title: |
Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts. |
Volume: |
194 |
Issue: |
2 |
Pages: |
123-40 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen W |
Year: |
2014 |
Journal: |
Nat Med |
Title: |
The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+-triggered arrhythmias. |
Volume: |
20 |
Issue: |
2 |
Pages: |
184-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hotta S |
Year: |
2007 |
Journal: |
J Physiol |
Title: |
Ryanodine receptor type 2 deficiency changes excitation-contraction coupling and membrane potential in urinary bladder smooth muscle. |
Volume: |
582 |
Issue: |
Pt 2 |
Pages: |
489-506 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhong X |
Year: |
2016 |
Journal: |
Biochem J |
Title: |
Suppression of ryanodine receptor function prolongs Ca2+ release refractoriness and promotes cardiac alternans in intact hearts. |
Volume: |
473 |
Issue: |
21 |
Pages: |
3951-3964 |
|
•
•
•
•
•
|
Publication |
First Author: |
Becerra R |
Year: |
2016 |
Journal: |
Am J Physiol Heart Circ Physiol |
Title: |
Reversible redox modifications of ryanodine receptor ameliorate ventricular arrhythmias in the ischemic-reperfused heart. |
Volume: |
311 |
Issue: |
3 |
Pages: |
H713-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang Y |
Year: |
2014 |
Journal: |
Circ Res |
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