Gene
ryr2b
- ID
- ZDB-GENE-061226-3
- Name
- ryanodine receptor 2b (cardiac)
- Symbol
- ryr2b Nomenclature History
- Previous Names
-
- ryr2
- ryrbb (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable ryanodine-sensitive calcium-release channel activity. Predicted to be involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum and striated muscle contraction. Predicted to act upstream of or within calcium ion transmembrane transport and intracellular calcium ion homeostasis. Predicted to be located in membrane and sarcoplasmic reticulum. Predicted to be part of calcium channel complex. Predicted to be active in Z disc; endoplasmic reticulum; and sarcolemma. Is expressed in cardiac muscle; heart; heart primordium; and heart tube. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| catecholaminergic polymorphic ventricular tachycardia 1 | Alliance | Ventricular tachycardia, catecholaminergic polymorphic, 1 | 604772 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 115000 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-hand domain | EF-hand domain pair | Ion transport domain | Ryanodine/Inositol 1,4,5-trisphosphate receptor | Ryanodine Receptor TM 4-6 |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PCJ9 | InterPro | 936 | |||||
| UniProtKB:A0A8M9PCK4 | InterPro | 3947 | |||||
| UniProtKB:A0A8M9P9G0 | InterPro | 4917 | |||||
| UniProtKB:A0AB32T6W5 | InterPro | 4881 | |||||
| UniProtKB:A0AB32TNI4 | InterPro | 3951 |
Interactions and Pathways
No data available
Plasmids