Gene
ryr2a
- ID
- ZDB-GENE-071001-1
- Name
- ryanodine receptor 2a (cardiac)
- Symbol
- ryr2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable calcium channel activity. Involved in neural tube patterning and smoothened signaling pathway. Predicted to be located in sarcoplasmic reticulum membrane. Is expressed in brain; cardiac muscle; spinal cord; and trigeminal ganglion. 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
- 5 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 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | EF-hand domain | EF-hand domain pair | Inositol 1,4,5-trisphosphate/ryanodine receptor | Ion transport domain | Mir domain superfamily | MIR motif | RIH domain | Ryanodine/Inositol 1,4,5-trisphosphate receptor | Ryanodine receptor | Ryanodine receptor, junctional solenoid domain | Ryanodine receptor Ryr | Ryanodine receptor, SPRY domain 1 | Ryanodine receptor, SPRY domain 2 | Ryanodine receptor, SPRY domain 3 | Ryanodine Receptor TM 4-6 | RyR/IP3 receptor binding core, RIH domain superfamily | RyR/IP3R Homology associated domain | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB32U380 | InterPro | 4550 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available