Gene

ryr2a

ID
ZDB-GENE-071001-1
Name
ryanodine receptor 2a (cardiac)
Symbol
ryr2a Nomenclature History
Previous Names
  • ryrba (1)
  • pc7 (1)
  • zmp:0000001097
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have calcium channel activity. Involved in smoothened signaling pathway. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 2; and catecholaminergic polymorphic ventricular tachycardia 1. Is expressed in brain; cardiac muscle; spinal cord; and trigeminal ganglion. Orthologous to human RYR2 (ryanodine receptor 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ryr2a Human Ortholog
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
Associated With ryr2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000699 RIH domain
Domain IPR001870 B30.2/SPRY domain
Domain IPR002048 EF-hand domain
Domain IPR003032 Ryanodine receptor Ryr
Domain IPR003877 SPRY domain
Domain IPR005821 Ion transport domain
Domain IPR009460 Ryanodine Receptor TM 4-6
Domain IPR013662 RyR/IP3R Homology associated domain
Domain IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
Domain IPR016093 MIR motif
Domain IPR035761 Ryanodine receptor, SPRY domain 1
Domain IPR035762 Ryanodine receptor, SPRY domain 3
Domain IPR035764 Ryanodine receptor, SPRY domain 2
Domain IPR048581 Ryanodine receptor, junctional solenoid domain
Family IPR013333 Ryanodine receptor
Family IPR015925 Ryanodine/Inositol 1,4,5-trisphosphate receptor
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR035910 RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily IPR036300 Mir domain superfamily
Homologous_superfamily IPR043136 B30.2/SPRY domain superfamily
Domain Details Per Protein
Protein 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:A0A8M9PWM5
InterPro
4608
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations
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