Ryanodine receptor 2

RYR2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4JKQ
Identifiers
Aliases	RYR2, ARVC2, ARVD2, RYR-2, RyR, VTSIP, ryanodine receptor 2, VACRDS
External IDs	OMIM: 180902; MGI: 99685; HomoloGene: 37423; GeneCards: RYR2; OMA:RYR2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	237,833,988 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	12,106,945 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; myocardium of left ventricle; ; cardiac muscle tissue of right atrium; ; apex of heart; ; right auricle; ; endothelial cell; ; Brodmann area 23; ; vena cava; ; primary visual cortex; ; right hemisphere of cerebellum;
	Top expressed in
	myocardium of ventricle; ; cardiac muscle tissue of left ventricle; ; right ventricle; ; interventricular septum; ; atrium; ; atrioventricular valve; ; lateral septal nucleus; ; dentate gyrus; ; primary motor cortex; ; anterior amygdaloid area;
	More reference expression data
	n/a
Gene ontology
Molecular function	transmembrane transporter binding; calcium channel activity; calcium-induced calcium release activity; protein kinase A catalytic subunit binding; organic cyclic compound binding; protein self-association; ion channel activity; protein binding; identical protein binding; enzyme binding; suramin binding; protein kinase A regulatory subunit binding; protein kinase binding; calcium-release channel activity; ryanodine-sensitive calcium-release channel activity; calcium ion binding; calmodulin binding;
Cellular component	integral component of membrane; calcium channel complex; membrane; sarcomere; junctional sarcoplasmic reticulum membrane; sarcoplasmic reticulum; Z discdkac; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; plasma membrane; protein-containing complex; cytoplasmic vesicle membrane; sarcolemma;
Biological process	response to muscle stretch; release of sequestered calcium ion into cytosol; calcium ion transport into cytosol; regulation of cardiac conduction; regulation of cardiac muscle contraction by calcium ion signaling; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; response to hypoxia; cardiac muscle contraction; regulation of cytosolic calcium ion concentration; positive regulation of the force of heart contraction; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; cardiac muscle hypertrophy; ventricular cardiac muscle cell action potential; cell communication by electrical coupling involved in cardiac conduction; cellular calcium ion homeostasis; establishment of protein localization to endoplasmic reticulum; ion transport; BMP signaling pathway; left ventricular cardiac muscle tissue morphogenesis; regulation of heart rate; positive regulation of heart rate; detection of calcium ion; response to redox state; cellular response to epinephrine stimulus; multicellular organism development; ion transmembrane transport; positive regulation of sequestering of calcium ion; embryonic heart tube morphogenesis; calcium ion transmembrane transport; cellular response to caffeine; sarcoplasmic reticulum calcium ion transport; canonical Wnt signaling pathway; regulation of SA node cell action potential; response to caffeine; regulation of cardiac muscle contraction; regulation of ventricular cardiac muscle cell action potential; regulation of AV node cell action potential; calcium-mediated signaling using intracellular calcium source; response to muscle activity; calcium ion transport; calcium-mediated signaling; type B pancreatic cell apoptotic process; regulation of atrial cardiac muscle cell action potential; positive regulation of ATPase-coupled calcium transmembrane transporter activity; Purkinje myocyte to ventricular cardiac muscle cell signaling; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6262
	20191
	ENSG00000198626
	ENSMUSG00000021313
	Q92736
	E9Q401
	NM_001035
	NM_023868
	NP_001026
	NP_076357
	Wikidata
View/Edit Human	View/Edit Mouse

Ryanodine receptor 2 (RYR2) is one of a class of ryanodine receptors and a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.^[5]^[6]^[7] In the process of cardiac calcium-induced calcium release, RYR2 is the major mediator for sarcoplasmic release of stored calcium ions.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198626 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021313 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (August 1990). "Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum". The Journal of Biological Chemistry. 265 (23): 13472–83. doi:10.1016/S0021-9258(18)77371-7. PMID 2380170.
^ Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC, MacLennan DH (August 1993). "Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes". Genomics. 17 (2): 507–9. doi:10.1006/geno.1993.1357. PMID 8406504.
^ Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. (February 2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Human Molecular Genetics. 10 (3): 189–94. doi:10.1093/hmg/10.3.189. hdl:11577/2459215. PMID 11159936.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198626 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021313 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2380170-5] Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (August 1990). "Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum". The Journal of Biological Chemistry. 265 (23): 13472–83. doi:10.1016/S0021-9258(18)77371-7. PMID 2380170.

[pmid8406504-6] Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC, MacLennan DH (August 1993). "Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes". Genomics. 17 (2): 507–9. doi:10.1006/geno.1993.1357. PMID 8406504.

[pmid11159936-7] Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. (February 2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Human Molecular Genetics. 10 (3): 189–94. doi:10.1093/hmg/10.3.189. hdl:11577/2459215. PMID 11159936.

[1]

[2]

[3]

[4]

[5]

[6]

[7]