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MIRAGE
ryanodine receptor 2
Summary
- Gene Symbol
-
- RYR2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Calmodulin-binding
- Cardiomyopathy
- Coiled coil
- Developmental protein
- Disease variant
- Ligand-gated ion channel
- Phosphoprotein
- Proteomics identification
- Receptor
- Reference proteome
- Repeat
- Sarcoplasmic reticulum
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q92736 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to hypoxia |
|
|
| response to hypoxia |
|
|
| regulation of heart rate |
|
|
| regulation of heart rate |
|
|
| embryonic heart tube morphogenesis |
|
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane |
|
|
| membrane |
|
|
| sarcoplasmic reticulum |
|
|
| sarcoplasmic reticulum |
|
|
| sarcomere |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ion channel activity |
|
|
| monoatomic ion channel activity |
|
|
| ryanodine-sensitive calcium-release channel activity |
|
|
| ryanodine-sensitive calcium-release channel activity |
|
|
| ryanodine-sensitive calcium-release channel activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- ryanodine receptor
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060675 | catecholaminergic polymorphic ventricular tachycardia 1 | |
| DOID:0050431 | arrhythmogenic right ventricular cardiomyopathy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 20191 | MGI:99685 | |
| 689560 | RGD:620314 |
