| Primary Identifier | MGI:99685 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 20191 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including calmodulin binding activity; identical protein binding activity; and ryanodine-sensitive calcium-release channel activity. Involved in several processes, including cellular response to caffeine; cellular response to epinephrine stimulus; and regulation of heart contraction. Acts upstream of or within several processes, including cardiac muscle hypertrophy; left ventricular cardiac muscle tissue morphogenesis; and positive regulation of heart rate. Located in Z disc; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of calcium channel complex. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study catecholaminergic polymorphic ventricular tachycardia 1 and heart disease. 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). PHENOTYPE: Homozygous null mice show embryonic lethality during organogenesis and altered cardiomyocyte morphology. Homozygotes for a phosphorylation defective allele show decreased susceptibility to myocardial infarction-induced heart failure. Homozygotes for the R420W allele show lymphoid organ hypertrophy. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
