ZFIN ID: ZDB-GENE-071001-1
Gene Name: ryanodine receptor 2a (cardiac)
Gene Symbol: ryr2a    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Name: zmp:0000001097

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene 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: Alliance (1),  Gene:100126126 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa22177 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • z44 Small Deletion Exon 5 Frameshift, Premature Stop TALEN
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    TALEN1-ryr2a 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH ryr2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    arrhythmogenic right ventricular dysplasia 2 Alliance Arrhythmogenic right ventricular dysplasia 2 600996
    catecholaminergic polymorphic ventricular tachycardia 1 Alliance Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
    DISEASE ASSOCIATED WITH ryr2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process smoothened signaling pathway (more)
    Molecular Function calcium channel activity (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR002048 EF-hand domain
    Homologous_superfamily IPR011992 EF-hand domain pair
    Domain IPR013662 RyR/IP3R Homology associated domain
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ryr2a No data available
    MARKER RELATIONSHIPS No data available
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_021480192 (1)
    Genomic GenBank:CABZ01084956 (1) 30758 bp
    Select Tool
    Polypeptide UniProtKB:A7M794 (1) 277 aa
    Sequence Clusters UniGene:157354 (1)
    Sequence Information (all 25)
    ORTHOLOGY for ryr2a ( Chr: 12 )
    CITATIONS (20)