Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6262
Gene name Gene Name - the full gene name approved by the HGNC.	Ryanodine receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RYR2
Synonyms (NCBI Gene) Gene synonyms aliases	ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	VACRDS
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q43
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B

Show/Hide all(191)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41267517	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs112680790	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs117180147	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs121918597	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918598	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs121918599	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918600	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918601	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918602	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918603	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918604	G>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918605	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918606	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs144256966	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs149514924	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs185237690	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs186181155	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs186906598	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs187977513	A>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs188671846	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs190140598	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs193922622	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193922623	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922625	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922626	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200092869	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs200105499	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200121281	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200236750	C>T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200318013	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200450676	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200525962	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200642525	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201079716	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201131315	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201371633	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201500134	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201880756	C>A,T	Benign-likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs202015519	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs202176504	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs367992907	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs369512347	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs370332882	T>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs370996795	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs371147744	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs372601642	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs373024059	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs373606009	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs373721253	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs375213838	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377465289	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs397516503	A>-	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs397516508	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516510	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516524	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs397516539	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398123540	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs550691734	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs551099887	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs559154874	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs564806219	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs569571855	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs587782975	A>G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs727503396	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727504630	TC>AT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs727504718	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs730880187	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880191	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880196	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880199	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880200	C>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880201	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748937501	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs751428303	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs753175584	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs753850982	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs755065507	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs755520825	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs758500988	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs758785338	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs762521873	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs763374929	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs765238394	A>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs768538183	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs771994461	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs772984053	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs774625105	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs780266883	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786205454	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205455	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794727676	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs794728704	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728705	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728707	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728708	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728710	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728711	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728713	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728715	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728718	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728721	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728740	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728743	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728744	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728745	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728746	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728748	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728750	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728751	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728753	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728754	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728755	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728756	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728757	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728775	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728777	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728778	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728779	A>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728780	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728782	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728785	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728786	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728787	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728788	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728791	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728799	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728801	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728802	A>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728803	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728804	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728806	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728807	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728808	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728809	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728810	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728811	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728812	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728813	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728814	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728826	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728828	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728831	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728832	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728834	CGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728837	GC>AG	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs863223354	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863223355	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876661386	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs876661387	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs886037907	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886037908	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886038888	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs886039458	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886042568	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs886046270	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs1008224442	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs1057517873	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500137	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500142	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793256	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794753	T>A,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064796516	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085307997	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085308008	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1226397753	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1342435908	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1373714510	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1401116572	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1415931588	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553263732	GAG>AAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263875	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263907	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553283030	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1553322494	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553335836	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339084	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339086	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553343100	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553426678	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553454821	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553531703	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558103974	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558393802	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405816	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405887	GAG>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1558481148	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558698334	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1572627115	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573300872	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573911397	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573997412	CTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017941	hsa-miR-335-5p	Microarray	18185580
MIRT051746	hsa-let-7c-5p	CLASH	23622248
MIRT050849	hsa-miR-17-5p	CLASH	23622248
MIRT050316	hsa-miR-25-3p	CLASH	23622248
MIRT1323778	hsa-miR-1257	CLIP-seq
MIRT1323779	hsa-miR-1303	CLIP-seq
MIRT1323780	hsa-miR-1908	CLIP-seq
MIRT1323781	hsa-miR-193a-5p	CLIP-seq
MIRT1323782	hsa-miR-3128	CLIP-seq
MIRT1323783	hsa-miR-3180	CLIP-seq
MIRT1323784	hsa-miR-3180-3p	CLIP-seq
MIRT1323785	hsa-miR-3196	CLIP-seq
MIRT1323786	hsa-miR-4488	CLIP-seq
MIRT1323787	hsa-miR-4697-5p	CLIP-seq
MIRT1323788	hsa-miR-4719	CLIP-seq
MIRT1323789	hsa-miR-509-3p	CLIP-seq
MIRT1323790	hsa-miR-513b	CLIP-seq
MIRT1323791	hsa-miR-659	CLIP-seq
MIRT1323792	hsa-miR-663	CLIP-seq
MIRT1323793	hsa-miR-877	CLIP-seq
MIRT2096128	hsa-miR-450b-5p	CLIP-seq
MIRT2096129	hsa-miR-4698	CLIP-seq
MIRT1323781	hsa-miR-193a-5p	CLIP-seq
MIRT2320411	hsa-miR-4682	CLIP-seq
MIRT2320412	hsa-miR-4790-3p	CLIP-seq
MIRT1323789	hsa-miR-509-3p	CLIP-seq
MIRT2440018	hsa-miR-129-5p	CLIP-seq
MIRT2440019	hsa-miR-3124-3p	CLIP-seq
MIRT2440020	hsa-miR-3180-5p	CLIP-seq
MIRT2440021	hsa-miR-520a-5p	CLIP-seq
MIRT2440022	hsa-miR-525-5p	CLIP-seq

Show/Hide all(83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	ISS
GO:0002027	Process	Regulation of heart rate	IMP	11159936, 12919952, 15197150
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	ISS
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA	21873635
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	17921453
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005513	Process	Detection of calcium ion	IDA	10830164
GO:0005515	Function	Protein binding	IPI	10830164, 11237759, 17921453, 20195357, 23233753
GO:0005516	Function	Calmodulin binding	IDA	22067155, 26164367, 27516456
GO:0005516	Function	Calmodulin binding	IMP	19220289
GO:0005516	Function	Calmodulin binding	IPI	23040497
GO:0005516	Function	Calmodulin binding	ISS
GO:0005790	Component	Smooth endoplasmic reticulum	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0006816	Process	Calcium ion transport	IDA	17921453
GO:0006874	Process	Cellular calcium ion homeostasis	ISS
GO:0010460	Process	Positive regulation of heart rate	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC	19220289
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	17875969
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP	12919952
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0014850	Process	Response to muscle activity	IMP	17875969
GO:0015278	Function	Calcium-release channel activity	IDA	17921453
GO:0015278	Function	Calcium-release channel activity	ISS
GO:0016020	Component	Membrane	IDA	12443530
GO:0016529	Component	Sarcoplasmic reticulum	IDA	10830164, 12919952
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IPI	16213210
GO:0030018	Component	Z disc	IBA	21873635
GO:0030018	Component	Z disc	IDA	19131648
GO:0030018	Component	Z disc	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IBA	21873635
GO:0031000	Process	Response to caffeine	IDA	17921453
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA	21873635
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	19095005
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034236	Function	Protein kinase A catalytic subunit binding	IDA	10830164
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	10830164
GO:0034704	Component	Calcium channel complex	IBA	21873635
GO:0034704	Component	Calcium channel complex	IDA	10830164, 16213210
GO:0035584	Process	Calcium-mediated signaling using intracellular calcium source	IDA	17921453
GO:0035994	Process	Response to muscle stretch	IMP	15105296
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	10830164
GO:0043621	Function	Protein self-association	IEA
GO:0043924	Function	Suramin binding	IMP	19220289
GO:0044325	Function	Ion channel binding	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IBA	21873635
GO:0048763	Function	Calcium-induced calcium release activity	IDA	17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA	21873635
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	12443530, 17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051284	Process	Positive regulation of sequestering of calcium ion	IDA	12443530, 12919952
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0051775	Process	Response to redox state	IDA	19226252
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	11159936
GO:0060048	Process	Cardiac muscle contraction	IMP	10830164
GO:0060402	Process	Calcium ion transport into cytosol	IDA	17921453
GO:0070296	Process	Sarcoplasmic reticulum calcium ion transport	TAS	19095005
GO:0071313	Process	Cellular response to caffeine	IDA	12919952
GO:0071313	Process	Cellular response to caffeine	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	TAS	23507255
GO:0072599	Process	Establishment of protein localization to endoplasmic reticulum	IDA	12443530
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	ISS
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IC
GO:0097050	Process	Type B pancreatic cell apoptotic process	IMP	15044459
GO:0098735	Process	Positive regulation of the force of heart contraction	IMP	15105296
GO:0098904	Process	Regulation of AV node cell action potential	IMP	17875969
GO:0098907	Process	Regulation of SA node cell action potential	IMP	17875969
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	17875969
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17875969
GO:1901896	Process	Positive regulation of ATPase-coupled calcium transmembrane transporter activity	IDA	12443530
GO:1903779	Process	Regulation of cardiac conduction	TAS

MIM	HGNC	e!Ensembl
180902	10484	ENSG00000198626

Protein

UniProt ID

Q92736

Protein name

Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)

Protein function

Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardi

PDB

4JKQ , 6Y4O , 6Y4P , 7KL5 , 7U9Q , 7U9R , 7U9T , 7U9X , 7U9Z , 7UA1 , 7UA3 , 7UA4 , 7UA5 , 7UA9 , 8UQ2 , 8UQ3 , 8UQ4 , 8UQ5 , 8UXC , 8UXE , 8UXF , 8UXG , 8UXH , 8UXI , 8UXL , 8UXM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08709	Ins145_P3_rec	9 → 223	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
PF02815	MIR	226 → 406	MIR domain	Domain
PF01365	RYDR_ITPR	453 → 648	RIH domain	Family
PF00622	SPRY	672 → 807	SPRY domain	Family
PF02026	RyR	862 → 952	RyR domain	Family
PF02026	RyR	976 → 1066	RyR domain	Family
PF00622	SPRY	1100 → 1220	SPRY domain	Family
PF00622	SPRY	1425 → 1560	SPRY domain	Family
PF01365	RYDR_ITPR	2123 → 2336	RIH domain	Family
PF02026	RyR	2701 → 2791	RyR domain	Family
PF02026	RyR	2821 → 2905	RyR domain	Family
PF08454	RIH_assoc	3830 → 3948	RyR and IP3R Homology associated	Family
PF06459	RR_TM4-6	4333 → 4599	Ryanodine Receptor TM 4-6	Family
PF00520	Ion_trans	4707 → 4878	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. {ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:9607712}.

Sequence

MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP
DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL
LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD
LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH
MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV
TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV
CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR
STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR
ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL
IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL
LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF
LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD
DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE
NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY
KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL
GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK
VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI
QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG
TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF
KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG
FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ
VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG
GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK
PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN
VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR
NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI
KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ
CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV
DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP
DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK
EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE
SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH
RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK
DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK
KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR
ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN
LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY
LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML
VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG
NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG
RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF
CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL
CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL
RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL
SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY
KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG
YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK
EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI
LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE
KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF
LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED
LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI
YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP
MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA
VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT
TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV
VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI
CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD
TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV
ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR
VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME
KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY
LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF
RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE
QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ
DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF
LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY
EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG
SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM
QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS
LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE
GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF
GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE
KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY
NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV
LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ
PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS
DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA
AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA
IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF
FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN

Sequence length

4967

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	Source
Unknown
Catecholaminergic Polymorphic Ventricular Tachycardia	catecholaminergic polymorphic ventricular tachycardia 1		GenCC
Arrhythmogenic right ventricular cardiomyopathy	arrhythmogenic right ventricular dysplasia 2		GenCC
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy		GenCC
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy		GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (106)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	34794751
Acrocephalosyndactylia	Associate	23829686
Acute Kidney Injury	Associate	30678657
Adenocarcinoma of Lung	Associate	30075702, 31480292
Alzheimer Disease	Associate	21531043, 28476886
Arrhythmias Cardiac	Associate	12106942, 15131021, 16436635, 17062961, 17234962, 17556193, 17984046, 19926015, 20427316, 21659649, 22174035, 22221940, 23040497, 23651034, 25440180 View all (20 more)
Arrhythmogenic Right Ventricular Dysplasia	Associate	12919952, 20045464, 22174035, 25041964, 25445213, 27927985, 33831308, 35526016, 36693454
Arrhythmogenic Right Ventricular Dysplasia Familial 2	Associate	15131021, 20045464, 25041964
Asthma	Associate	23829686, 36233078
Atrial Fibrillation	Inhibit	21179275
Atrial Fibrillation	Associate	22814392, 27733687, 27857207, 30219899, 30678657, 36335801
Autism Spectrum Disorder	Associate	30665119
Autistic Disorder	Associate	26742492
Autosomal Recessive Primary Microcephaly	Associate	32048431
Bradycardia	Associate	16272262, 29434162, 36070930
Breast Neoplasms	Associate	18431693, 34888385
Brugada Syndrome	Associate	26230511
Calcium Metabolism Disorders	Associate	36335801, 37387319
Carcinoma Non Small Cell Lung	Associate	26288819, 34877784
Cardiac Conduction System Disease	Associate	36070930
Cardio Renal Syndrome	Associate	37391705
Cardiomegaly	Associate	22814392
Cardiomyopathies	Associate	28359509, 35526016, 36357925
Cardiomyopathy Dilated	Associate	31024045, 37391705
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	33984427
Cardiomyopathy Hypertrophic	Associate	22515980, 29930088
Cardiomyopathy Right Ventricular Dilated	Associate	25041964
Cardiovascular Diseases	Associate	20009918
Channelopathies	Associate	19926015, 22814392, 29544605, 30849713, 35543671, 39180845
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	36578478
Cleft Palate	Associate	30403697, 37967257
Cognition Disorders	Associate	21531043
Cognitive Dysfunction	Associate	21531043
Colorectal Neoplasms	Associate	29575536, 35975176
Colorectal Neoplasms	Stimulate	36453019
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	37387319
Coronary Artery Disease	Associate	26196381
Crisponi syndrome	Associate	12919952
Death	Associate	16436635, 17062961, 31995186, 34930847
Death Sudden	Associate	12106942, 15131021, 16272262, 16436635, 17062961, 17222736, 20427316, 21659649, 22221940, 31913406, 32101375, 32663189, 33686871, 33825858, 34930847
Death Sudden Cardiac	Associate	21699856, 23595086, 23651034, 25036739, 26196381, 33200177, 33315912, 37210947, 37894987
Delirium	Associate	30678657
Dermatitis Exfoliative	Associate	30849713
Developmental Disabilities	Associate	22814392
Drowning	Associate	21964171
Edema	Associate	25069764
Esophageal Squamous Cell Carcinoma	Associate	36168622
Essential Hypertension	Associate	40118787
Genetic Diseases Inborn	Associate	32077934
Glucose Galactose Malabsorption	Associate	9546812
Heart Arrest	Associate	21659649, 28158428, 30849713, 31875585, 31994352, 32663189, 33315912, 35439358
Heart Diseases	Associate	16436635, 22814392, 24427266, 27452199, 29434162, 32077934, 36070930, 36084744, 37387319
Heart Failure	Associate	22814392, 25036739, 28359509, 35526016, 37391705, 37894987
Heart Valve Diseases	Inhibit	21179275
Heat Stress Disorders	Associate	39457051
Hepatitis B Chronic	Associate	36233078
Hypersensitivity Delayed	Associate	22174035
Hypertension	Associate	40118787
Hypoxia	Inhibit	35703484
Hypoxia Brain	Inhibit	35703484
Inflammation	Associate	23829686
Iron Overload	Associate	37387319
Isolated Noncompaction of the Ventricular Myocardium	Associate	30471092, 31875585, 33984427, 39595626
Jervell Lange Nielsen Syndrome	Associate	29037160
Leukemic Infiltration	Associate	17062961
Long QT Syndrome	Associate	19926015, 21964171, 22956155, 26309258, 28449774, 29434162, 35354758, 36480497, 36496072
Lymphatic Diseases	Associate	17062961
Malignant Hyperthermia	Associate	27558158
Melanoma	Associate	31647501
Mental Disorders	Associate	26508570
Muscular Dystrophies	Associate	32980690
Myasthenia Gravis	Associate	9546812
Myocardial Infarction	Associate	30678657
Myopathy Central Core	Associate	34813985
Myositis	Associate	28771594
Neoplasm Metastasis	Associate	36453019
Neoplasms	Associate	18431693, 29575536, 34888385, 36167878, 36168622, 36453019
Neurodegenerative Diseases	Associate	21531043
Non Muscle Invasive Bladder Neoplasms	Associate	33388091
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	33500567
Osteoglophonic dwarfism	Stimulate	31564830
Paroxysmal ventricular fibrillation	Associate	17984046, 25036739, 33664309, 33825858, 39180845
Polymorphic catecholergic ventricular tachycardia	Associate	12106942, 12919952, 16272262, 16436635, 16823244, 17556193, 19084807, 19216760, 19926015, 20045464, 21659649, 21699856, 21964171, 22174035, 22178870 View all (60 more)
Pre Eclampsia	Inhibit	20178461
Primary Release Disorder Of Platelets	Associate	33825858
Renal Insufficiency	Associate	37391705
Respiratory Tract Diseases	Associate	23829686
Schizophrenia Childhood	Associate	26508570
Seizures	Associate	22814392, 30849713
Sick Sinus Syndrome	Associate	25440180
Spasms Infantile	Associate	29667327
Stomach Neoplasms	Associate	32801999
Stroke	Associate	30678657
Sudden Infant Death	Associate	17556193, 29544605
Sudden Unexpected Death in Epilepsy	Associate	23098067, 34816733
Syncope	Associate	12106942, 16272262, 16436635, 17062961, 19926015, 21659649, 25463374, 31994352
Tachycardia Ventricular	Associate	12919952, 15131021, 16436635, 17234962, 17984046, 19926015, 21659649, 22221940, 22677073, 23040497, 23595086, 25041964, 25440180, 25463374, 25835811 View all (12 more)
Takotsubo Cardiomyopathy	Associate	28818208
Thrombosis	Associate	36453019
Thymoma	Associate	9546812
Torsades de Pointes	Associate	27756708, 33664309
Urinary Bladder Neoplasms	Associate	36578478
Ventricular Dysfunction Left	Associate	36084744
Ventricular Fibrillation	Associate	33686871, 34730774, 35354758
Ventricular Premature Complexes	Associate	19216760, 22221940, 25463374, 27756708, 37122207
Xeroderma pigmentosum variant type	Associate	16272262

RYR2 (ryanodine receptor 2)