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 calcium-induced calcium release activity and ryanodine-sensitive calcium-release channel activity. Predicted to act upstream of or within calcium ion transmembrane transport and cellular 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; arrhythmogenic right ventricular dysplasia 2; and catecholaminergic polymorphic ventricular tachycardia 1. Orthologous to human RYR2 (ryanodine receptor 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 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 ryr2b 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 ryr2b 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	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