RYR2 Gene Summary [Human]
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RYR2 |
| Official Name | ryanodine receptor 2 [Source:HGNC Symbol;Acc:HGNC:10484] |
| Ensembl ID | ENSG00000198626 |
| Bio databases IDs | |
| Aliases | ryanodine receptor 2 |
| Synonyms | 9330127I20Rik, ARVC2, ARVD2, Cardiac calcium release channel, ryanodine receptor 2, ryanodine receptor 2, cardiac, RyR, VACRDS, VTSIP |
| Species | Human, Homo sapiens |
| 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 human 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 human 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
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 human 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