Gene table of RYR1 : ryanodine receptor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RYR1	OMIM link	Number of associated genes	genes
255310	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	ClinVar, HUMSAVAR	link to OMIM	5	TPM3, RYR1, ACTA1, SEPN1, MYH7
255320	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	RYR1
117000	CENTRAL CORE DISEASE OF MUSCLE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	RYR1
PS145600	MALIGNANT HYPERTHERMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	RYR1, CACNA1S

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Annotation of the gene RYR1

Associated genes in ENSEMBL

ENSG00000196218

Associated proteins - SwissProt Accession ID

P21817

Associated PDB IDs

Cytogenetic Band

19q13.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Calcium signaling pathway	hsa04020	5.22
Circadian entrainment	hsa04713	6.11
Oxytocin signaling pathway	hsa04921	5.4
Long-term depression	hsa04730	6.74

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
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion binding	GO:0043167	1.36
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
ligand-gated ion channel activity	GO:0015276	4.8
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
transmembrane transporter activity	GO:0022857	2.82
calcium ion binding	GO:0005509	3.17
protease binding	GO:0002020	5.08
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
voltage-gated cation channel activity	GO:0022843	4.83
intracellular ligand-gated ion channel activity	GO:0005217	6.41
ryanodine-sensitive calcium-release channel activity	GO:0005219	8.35
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transporter activity	GO:0022892	2.72
calmodulin binding	GO:0005516	4.55
ligand-gated calcium channel activity	GO:0099604	6.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific channel activity	GO:0022838	3.67
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
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
voltage-gated calcium channel activity	GO:0005245	6.0
voltage-gated ion channel activity	GO:0005244	4.49
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32