Ryanodine receptor 2

Ryanodine receptor 2 (cardiac)

Identifiers

RYR2; ARVC2; ARVD2; RYR-2; RyR; VTSIP

External IDs

OMIM: 180902 MGI: 99685 HomoloGene: 37423 IUPHAR: RyR2 ChEMBL: 4403 GeneCards: RYR2 Gene

Gene Ontology
Molecular function	• intracellular ligand-gated calcium channel activity • ryanodine-sensitive calcium-release channel activity • calcium channel activity • calcium ion binding • protein binding • calmodulin binding • calcium-release channel activity • protein kinase A catalytic subunit binding • protein kinase A regulatory subunit binding • identical protein binding • protein self-association • suramin binding • ion channel binding • calcium-induced calcium release activity
Cellular component	• plasma membrane • junctional sarcoplasmic reticulum membrane • membrane • sarcoplasmic reticulum • Z disc • sarcoplasmic reticulum membrane • calcium channel complex • protein complex
Biological process	• response to hypoxia • regulation of heart rate • embryonic heart tube morphogenesis • left ventricular cardiac muscle tissue morphogenesis • cardiac muscle hypertrophy • detection of calcium ion • calcium ion transport • cellular calcium ion homeostasis • intrinsic apoptotic signaling pathway in response to osmotic stress • positive regulation of heart rate • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • calcium-mediated signaling • BMP signaling pathway • response to caffeine • ion transmembrane transport • calcium-mediated signaling using intracellular calcium source • release of sequestered calcium ion into cytosol • positive regulation of sequestering of calcium ion • cytosolic calcium ion homeostasis • response to redox state • transmembrane transport • regulation of cardiac muscle contraction • cardiac muscle contraction • canonical Wnt receptor signaling pathway • calcium ion transport into cytosol • sarcoplasmic reticulum calcium ion transport • cellular response to caffeine • establishment of protein localization to endoplasmic reticulum • regulation of ventricular cardiac muscle cell action potential • Purkinje myocyte to ventricular cardiac muscle cell signaling • cell communication by electrical coupling involved in cardiac conduction • positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction • positive regulation of calcium-transporting ATPase activity
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1:
237.21 – 238.13 Mb

Chr 13:
11.55 – 12.11 Mb

PubMed search

[1]

[2]

Ryanodine receptor 2 (RYR2) is a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene.^[1]^[2]^[3]

1 Function
2 Clinical significance
3 See also
4 Interactions
5 References
6 Further reading
7 External links

Function [edit]

The RYR2 protein functions as a component of a calcium channel that supplies ions to the cardiac muscle. The channel is composed of RYR2 tetramers and FK506-binding proteins found in a 1:4 stoichiometric ratio. Calcium channel function is affected by the specific type of FK506 isomer interacting with the RYR2 protein, due to binding differences and other factors.^[4] RYR2 channels control many cellular functions, including mitochondrial metabolism, gene expression and cell survival, in addition to their most studied role in cardiomyocyte contraction.^[5]

Clinical significance [edit]

Mutations in the RYR2 gene are associated with catecholaminergic polymorphic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, and arrhythmogenic right ventricular dysplasia.^[6]

Mice with genetically reduced Ryr2 exhibit a lower basal heart rate and fatal arrythmias.^[7]

Interactions [edit]

Ryanodine receptor 2 has been shown to interact with:

References [edit]

^ Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH (September 1990). "Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum". J Biol Chem 265 (23): 13472–83. PMID 2380170.
^ Otsu K, Fujii J, Periasamy M, Difilippantonio M, Uppender M, Ward DC, MacLennan DH (October 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, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A (February 2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Hum Mol Genet 10 (3): 189–94. doi:10.1093/hmg/10.3.189. PMID 11159936.
^ Guo T, Cornea RL, Huke S, Camors E, Yang Y, Picht E, Fruen BR, Bers DM (June 2010). "Kinetics of FKBP12.6 binding to ryanodine receptors in permeabilized cardiac myocytes and effects on Ca sparks". Circ. Res. 106 (11): 1743–52. doi:10.1161/CIRCRESAHA.110.219816. PMC 2895429. PMID 20431056.
^ Bround, Michael; Michael Rich Wambolt, Dan S. Luciani, Jerzy E. Kulpa, Brian Rodrigues, Roger W. Brownsey, Michael F. Allard, James D. Johnson (15). "Cardiomyocyte ATP production, metabolic flexibility, and survival require calcium flux through cardiac ryanodine receptors in vivo". Journal of Biological Chemistry. PMID 23678000.
^ "Entrez Gene: RYR2 ryanodine receptor 2 (cardiac)".
^ Bround MJ, Asghari P, Wambolt RB, Bohunek L, Smits C, Philit M, Kieffer TJ, Lakatta EG, Boheler KR, Moore ED, Allard MF, Johnson JD (September 2012). "Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice". Cardiovasc. Res. doi:10.1093/cvr/cvs260. PMID 22869620.
^ ^a ^b ^c ^d Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR (May 2000). "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts". Cell 101 (4): 365–76. doi:10.1016/S0092-8674(00)80847-8. PMID 10830164.
^ Marx SO, Reiken S, Hisamatsu Y, Gaburjakova M, Gaburjakova J, Yang YM, Rosemblit N, Marks AR (May 2001). "Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippers". J. Cell Biol. 153 (4): 699–708. doi:10.1083/jcb.153.4.699. PMC 2192391. PMID 11352932.
^ Meyers MB, Pickel VM, Sheu SS, Sharma VK, Scotto KW, Fishman GI (November 1995). "Association of sorcin with the cardiac ryanodine receptor". J. Biol. Chem. 270 (44): 26411–8. doi:10.1074/jbc.270.44.26411. PMID 7592856.

External links [edit]

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor (1, 2, 3) · Ryanodine receptor (1, 2, 3)

Voltage-gated	L-type/Ca_vα (1.1, 1.2, 1.3, 1.4) · N-type/Ca_vα2.2 · P-type/Ca_vα(2.1) · Q-type/Ca_vα2.1 · R-type/Ca_vα2.3 · T-type/Ca_vα(3.1, 3.2, 3.3) α₂δ-subunits (1, 2) · β-subunits (β1, β2, β3, β4) · γ-subunits (γ1, γ2, γ3, γ4) Cation channels of sperm (1, 2, 3, 4) · Two-pore channel (1, 2)

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel (α, β, γ, δ)

Proton-gated	Amiloride-sensitive cation channel (1, 2, 3, 4)

Voltage-gated	Na_vα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) · Na_vβ (1, 2, 3, 4)

K⁺: Potassium channel

Calcium-activated	BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3) · IK channel (IK1) · K_Ca (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1)

Inward-rectifier	K_ATP · K_ir (1.1, 2.1, 2.2, 2.3, 2.4, 2.6) · GIRK/K_ir (3.1, 3.2, 3.3, 3.4) · K_ir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)

Tandem pore domain	K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)

Voltage-gated	K_vα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4) K_vα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3) K_vβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker gene

Miscellaneous

Cl^-: Chloride channel	ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B)

H⁺: Proton channel	HVCN1

M⁺: CNG cation channel	α (1, 2, 3, 4) · β (1, 2, 3) · HCN (FC, 1, 2, 3, 4)

M⁺: TRP cation channel	TRPA (1) · TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) · TRPM (1, 2, 3, 4, 5, 6, 7, 8) · TRPML (1, 2, 3) · TRPN · TRPP (1, 2) · TRPV (1, 2, 3, 4, 5, 6)

H₂O (+ solutes): Porin	Aquaporin (0, 1, 2, 3, 4, 5, 6, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family

Cytoplasm: Gap junction	Connexin: A (GJA1, GJA3, GJA4, GJA5, GJA8, GJA9, GJA10) · B (GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GJB7) · C (GJC1, GJC2, GJC3) · D (GJD2, GJD3, GJD4)) Innexin

By gating mechanism

Ion channel class	Ligand-gated · Light-gated · Voltage-gated · Stretch-activated

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.

Contents

Function [edit]

Clinical significance [edit]

See also [edit]

Interactions [edit]

References [edit]

Further reading [edit]

External links [edit]