Hs04532971_cn

• Gene Symbol: RYR2
• Assay Reference Genome Location: Chr.1:237052021 on build GRCh38
• Cytoband: 1q43

Target Gene Details

• Entrez Gene ID: 6262
• Gene Name: ryanodine receptor 2
• Gene Aliases: ARVC2, ARVD2, RYR-2, RyR, VTSIP
• Location: Chr.1:237042208-237833988 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RYR2	NM_001035.2			NP_001026.2
	XM_006711802.3			XP_006711865.1
	XM_006711803.3			XP_006711866.1
	XM_006711804.3			XP_006711867.1
	XM_006711805.3			XP_006711868.1
	XM_006711806.3			XP_006711869.1
	XM_006711807.3			XP_006711870.1
	XM_006711808.3			XP_006711871.1
	XM_006711809.3			XP_006711872.1
	XM_006711810.3			XP_006711873.1
	XM_017002028.1			XP_016857517.1
	X98330.1			CAA66975.1
	Y08218.1			CAA69395.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1000707	Chr.1:237019112 - 237359712 on Build GRCh38	Gain	RYR2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

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
positive regulation of heart rate
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
regulation of cardiac muscle contraction by calcium ion signaling
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
response to muscle activity
calcium-mediated signaling
BMP signaling pathway
response to caffeine
ion transmembrane transport
calcium-mediated signaling using intracellular calcium source
response to muscle stretch
release of sequestered calcium ion into cytosol
positive regulation of sequestering of calcium ion
regulation of cytosolic calcium ion concentration
response to redox state
regulation of cardiac muscle contraction
cardiac muscle contraction
canonical Wnt signaling pathway
calcium ion transport into cytosol
sarcoplasmic reticulum calcium ion transport
cellular response to caffeine
cellular response to epinephrine stimulus
establishment of protein localization to endoplasmic reticulum
ventricular cardiac muscle cell action potential
Purkinje myocyte to ventricular cardiac muscle cell signaling
cell communication by electrical coupling involved in cardiac conduction
type B pancreatic cell apoptotic process
positive regulation of the force of heart contraction
regulation of AV node cell action potential
regulation of SA node cell action potential
regulation of atrial cardiac muscle cell action potential
regulation of ventricular cardiac muscle cell action potential
positive regulation of calcium-transporting ATPase activity
regulation of cardiac conduction

Function(s)

ryanodine-sensitive calcium-release channel activity
calcium channel activity
calcium ion binding
protein binding
calmodulin binding
calcium-release channel activity
enzyme binding
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