Gene table of RYR2 : ryanodine receptor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RYR2	OMIM link	Number of associated genes	genes
PS107970	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
PS604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	15	TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
115000	CARDIAC ARRHYTHMIA	ClinVar	link to OMIM	25	KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1

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Annotation of the gene RYR2

Associated genes in ENSEMBL

ENSG00000198626

Associated proteins - SwissProt Accession ID

Q92736

Associated PDB IDs

4jkq

Cytogenetic Band

1q43

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Pancreatic secretion	hsa04972	6.07
Dilated cardiomyopathy	hsa05414	6.08
Calcium signaling pathway	hsa04020	5.22
cAMP signaling pathway	hsa04024	5.05
Insulin secretion	hsa04911	6.18
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32
Circadian entrainment	hsa04713	6.11
Cardiac muscle contraction	hsa04260	6.34
Adrenergic signaling in cardiomyocytes	hsa04261	5.44
Oxytocin signaling pathway	hsa04921	5.4

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
calcium channel activity	GO:0005262	5.03
cation binding	GO:0043169	1.4
enzyme binding	GO:0019899	2.27
ligand-gated ion channel activity	GO:0015276	4.8
molecular transducer activity	GO:0060089	2.32
protein kinase A binding	GO:0051018	6.02
protein kinase A catalytic subunit binding	GO:0034236	7.03
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion channel binding	GO:0044325	5.02
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
sulfur compound binding	GO:1901681	4.32
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
receptor activity	GO:0004872	2.32
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
calmodulin binding	GO:0005516	4.55
calcium-induced calcium release activity	GO:0048763	9.05
cation transmembrane transporter activity	GO:0008324	3.32
ryanodine-sensitive calcium-release channel activity	GO:0005219	8.35
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
intracellular ligand-gated ion channel activity	GO:0005217	6.41
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
protein self-association	GO:0043621	5.93
substrate-specific transmembrane transporter activity	GO:0022891	2.9
suramin binding	GO:0043924	9.74
substrate-specific transporter activity	GO:0022892	2.72
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
ligand-gated calcium channel activity	GO:0099604	6.97
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
protein kinase A regulatory subunit binding	GO:0034237	6.97