Ryr2 Gene Summary [Mouse]
Enables several functions, including calmodulin binding activity; identical protein binding activity; and ryanodine-sensitive calcium-release channel activity. Involved in several processes, including cellular response to caffeine; cellular response to epinephrine stimulus; and regulation of heart contraction. Acts upstream of or within several processes, including cardiac muscle hypertrophy; left ventricular cardiac muscle tissue morphogenesis; and positive regulation of heart rate. Located in Z disc; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of calcium channel complex. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study catecholaminergic polymorphic ventricular tachycardia 1 and heart disease. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia 1. Orthologous to human RYR2 (ryanodine receptor 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ryr2 |
| Official Name | ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685] |
| Ensembl ID | ENSMUSG00000021313 |
| Bio databases IDs | |
| Aliases | ryanodine receptor 2, cardiac |
| Synonyms | 9330127I20Rik, ARVC2, ARVD2, Cardiac calcium release channel, ryanodine receptor 2, ryanodine receptor 2, cardiac, RyR, VACRDS, VTSIP |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ryr2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ryanodine-sensitive calcium-release channel
- protein kinase A binding
- protein kinase binding
- SPRY domain
- calmodulin binding
- calcium channel
- EF-hand domain pair
- enzyme binding
- RIH domain
- EFh
- MIR domain
- protein binding
- RyR domain
- identical protein binding
- beta-trefoil_MIR
- Ryanodine Receptor TM 4-6
- ion channel
- calcium-release channel
- binding protein
- RyR and IP3R Homology associated
- divergent region
- Inositol 1,4,5-trisphosphate/ryanodine receptor
- transmembrane domain
Pathways
Biological processes and signaling networks where the Ryr2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- heart failure
- catecholaminergic polymorphic ventricular tachycardia type 1
- impaired glucose tolerance
- cognitive impairment
- Alzheimer disease
- catecholaminergic polymorphic ventricular tachycardia
- Duchenne muscular dystrophy
- diverticular disease
- dilated cardiomyopathy
phenotypes
- decreased circulating glucose level
- increased startle reflex
- preweaning lethality complete penetrance
- abnormal afterhyperpolarization
- abnormal brain wave pattern
- abnormal cardiac muscle contractility
- abnormal cardiovascular system physiology
- abnormal epicardium morphology
- abnormal fetal cardiomyocyte morphology
- abnormal heart electrocardiography waveform feature
- abnormal heart left ventricle morphology
- abnormal heart morphology
- abnormal heart right ventricle morphology
- abnormal mesenteric lymph node morphology
- abnormal miniature excitatory postsynaptic currents
- abnormal myocardial fiber morphology
- abnormal myocardial fiber physiology
- abnormal myocardial trabeculae morphology
- abnormal nervous system electrophysiology
- abnormal sarcoplasmic reticulum morphology
- abnormal spleen white pulp morphology
- abnormal synaptic transmission
- absent heartbeat
- altered response of heart to induced stress
- altered response to myocardial infarction
- atrial fibrillation
- atrioventricular block
- cardiac fibrosis
- cardiac hypertrophy
- cardiomyopathy
- decreased body weight
- decreased cardiac muscle contractility
- decreased heart rate
- decreased survivor rate
- decreased ventricle muscle contractility
- disorganized myocardium
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality complete penetrance
- enlarged heart
- enlarged mesenteric lymph nodes
- fetal growth retardation
- heart left ventricle hypertrophy
- increased heart rate
- increased heart weight
- increased physiological sensitivity to xenobiotic
- increased response of heart to induced stress
- increased sensitivity to induced morbidity/mortality
- increased spleen weight
- increased susceptibility to pharmacologically induced seizures
- increased thymus weight
- irregular heartbeat
- large lymphoid organs
- lethality throughout fetal growth and development incomplete penetrance
- no abnormal phenotype detected
- postnatal lethality complete penetrance
- prenatal lethality complete penetrance
- thick interventricular septum
- thick ventricular wall
- thin interventricular septum
- thymus cortex hyperplasia
- tonic-clonic seizures
- ventricular fibrillation
- ventricular premature beat
- ventricular tachycardia
role in cell
- proliferation
- expression in
- apoptosis
- phosphorylation in
- cell viability
- number
- density
- morphology
- response by
- contraction by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- Cytoplasm
- perinuclear region
- cellular membrane
- sarcoplasmic reticulum
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- sarcomere
- cytosol
- cytoplasmic face of plasma membrane
- mitochondrial inner membrane
- nuclear rim
- nuclear envelope
- nuclear scaffolds
- nucleoplasmic reticulum
- sarcoplasmic reticulum vesicle
- sarcolemma
- Z line
- sarcoplasmic reticulum membrane
- late endosomes
- smooth endoplasmatic reticulum
- transverse tubules
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ryr2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of heart rate
- type B pancreatic cell apoptotic process
- striated muscle contraction
- cardiac muscle contraction
- calcium ion transport into cytosol
- response to hypoxia
- cellular response to epinephrine stimulus
- positive regulation of sequestering of calcium ion
- calcium ion transport
- establishment of localization in cell
- cellular response to caffeine
- release of sequestered calcium ion into cytosol
- response to muscle stretch
- cell communication by electrical coupling involved in cardiac conduction
- calcium-mediated signaling
- response to muscle activity
- Purkinje myocyte to ventricular cardiac muscle cell signaling
- regulation of ventricular cardiac muscle cell action potential
- cytosolic calcium ion homeostasis
- embryonic heart tube morphogenesis
- left ventricular cardiac muscle tissue morphogenesis
- cardiac muscle hypertrophy
- cellular calcium ion homeostasis
- detection of calcium ion
- regulation of heart rate
- response to redox state
- release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- sarcoplasmic reticulum calcium ion transport
- response to caffeine
- establishment of protein localization in endoplasmic reticulum
- regulation of cardiac muscle contraction by calcium ion signaling
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- regulation of cardiac muscle contraction
Cellular Component
Where in the cell the gene product is active
- Z disc
- calcium channel complex
- sarcoplasmic reticulum
- sarcolemma
- smooth endoplasmic reticulum
- membrane
- macromolecular complex
- junctional sarcoplasmic reticulum membrane
- plasma membrane
- sarcoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- calcium-release channel activity
- suramin binding
- calcium channel activity
- ryanodine-sensitive calcium-release channel activity
- calmodulin binding
- protein binding
- calcium-induced calcium release activity
- calcium ion binding
- protein kinase A regulatory subunit binding
- protein kinase A catalytic subunit binding
- enzyme binding