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 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

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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	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

Transcripts

Genome Browsers

NCBI

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
Gene Tree: Ensembl

Citations