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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	6262
Gene name	Ryanodine receptor 2
Gene symbol	RYR2
Synonyms (NCBI Gene)	ARVC2ARVD2RYR-2RyRVACRDSVTSIP
Chromosome	1
Chromosome location	1q43
Summary	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

191

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

120

Show/Hide all (120)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	ISS
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IMP	11159936, 12919952, 15197150
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	12443530, 17921453, 19220289, 27733687, 33536282
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
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	IEA
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
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	17921453
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006941	Process	Striated muscle contraction	IBA
GO:0010460	Process	Positive regulation of heart rate	IEA
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	IDA	19220289
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	17875969
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	IBA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	27733687, 33536282
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
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	Intracellularly gated calcium channel activity	IDA	17921453
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0016020	Component	Membrane	IDA	12443530
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	10830164, 12919952
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IDA	17921453
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	16213210
GO:0019901	Function	Protein kinase binding	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	19131648
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0031000	Process	Response to caffeine	IDA	17921453
GO:0031000	Process	Response to caffeine	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	19095005
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
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
GO:0034704	Component	Calcium channel complex	IDA	10830164, 16213210
GO:0034704	Component	Calcium channel complex	IEA
GO:0035994	Process	Response to muscle stretch	IMP	15105296
GO:0042383	Component	Sarcolemma	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10830164
GO:0043924	Function	Suramin binding	IMP	19220289
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IDA	17921453
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:0051649	Process	Establishment of localization in cell	IEA
GO:0051775	Process	Response to redox state	IDA	19226252
GO:0055085	Process	Transmembrane transport	IEA
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:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071313	Process	Cellular response to caffeine	IDA	12919952
GO:0071313	Process	Cellular response to caffeine	IEA
GO:0071313	Process	Cellular response to caffeine	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
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	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	IEA
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	IEA
GO:0097050	Process	Type B pancreatic cell apoptotic process	IMP	15044459
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
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

MIM	HGNC	e!Ensembl
180902	10484	ENSG00000198626

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

14259

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs2149404327	RCV002260442
Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic; Pathogenic	rs1060500137, rs794728706, rs794728708, rs190140598, rs794728817, rs794728754, rs397516510, rs2527697526, rs1685193967	RCV003147725 RCV000477870 RCV001332696 RCV000515377 RCV001801232 RCV001535748 RCV001254617 RCV003148098 RCV001262223
Cardiac arrhythmia	Likely pathogenic	rs193922622	RCV001841540
Cardiomyopathy	Pathogenic; Likely pathogenic	rs190140598, rs794728826, rs794728803, rs121918597, rs121918600, rs1401116572, rs1682404578	RCV001194068 RCV000769807 RCV001798636 RCV001798004 RCV003149571 RCV003532205 RCV001170258
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1695348814, rs374306538, rs1234449785, rs749930577, rs1663930286, rs794728708, rs190140598, rs794728721, rs794728740, rs794728753, rs794728754, rs794728756, rs794728785, rs794728787, rs794728802 View all (15 more)	RCV005271157 RCV002331653 RCV005405781 RCV002335778 RCV002389580 RCV002345634 RCV000620075 RCV002426877 RCV000617576 RCV002336457 RCV002362937 RCV002372117 RCV000247473 RCV004984725 RCV002415777 RCV000621431 RCV002390463 RCV002390465 RCV005480332 RCV004983280 RCV003361019 RCV003298032 RCV000617445 RCV000780694 RCV002338969 RCV002446768 RCV005404571 RCV000620678 RCV000620059 RCV005400733 RCV005403741 RCV000621755 RCV002366033
Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic; Pathogenic	rs1694311922, rs2149437479, rs190140598, rs794728753, rs121918602, rs1064796516, rs1553426678, rs397516508, rs397516539	RCV001338818 RCV001379326 RCV000219729 RCV000217048 RCV000151756 RCV004772935 RCV000534378 RCV000036672 RCV000036762
Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic; Pathogenic	rs1695348814, rs1663402590, rs760237464, rs1362710187, rs2149437479, rs2149437640, rs1701129738, rs794728747, rs2148789775, rs2149353116, rs2149354389, rs2149314726, rs2150146622, rs2102926494, rs2148724390 View all (129 more)	RCV002543807 RCV002543597 RCV003106213 RCV003104059 RCV003225185 RCV003104058 RCV002550280 RCV002550966 RCV002551541 RCV002550270 RCV002557515 RCV002255104 RCV001842247 RCV002562193 RCV002552904 RCV002553463 RCV002642006 RCV002549075 RCV002562806 RCV002562809 RCV002550308 RCV002571341 RCV002573405 RCV002563617 RCV002573533 RCV002579534 RCV002573516 RCV002545311 RCV002571223 RCV002642075 RCV002555798 RCV002074452 RCV002074457 RCV002291154 RCV000157444 RCV000157470 RCV002471405 RCV002471814 RCV002471915 RCV002472263 RCV003074912 RCV003084856 RCV002651430 RCV002651432 RCV000477870 RCV000208033 RCV000515377 RCV002288789 RCV001801232 RCV002515328 RCV002516910 RCV002517795 RCV001535748 RCV000208074 RCV002516885 RCV002517785 RCV002516896 RCV002515334 RCV002516898 RCV002515335 RCV001332695 RCV002517801 RCV002516899 RCV001248790 RCV002517804 RCV002517805 RCV002515339 RCV000445354 RCV002517808 RCV002649377 RCV002807315 RCV002846703 RCV002963374 RCV003026117 RCV003023553 RCV003043629 RCV003025288 RCV003148099 RCV000240630 RCV000240650 RCV003225661 RCV000013820 RCV000013821 RCV000013822 RCV000013823 RCV003151726 RCV003151727 RCV000013826 RCV000013827 RCV000013828 RCV003525711 RCV003526956 RCV003526768 RCV003527196 RCV003527236 RCV003527493 RCV003526316 RCV003639640 RCV003639940 RCV003640103 RCV003638194 RCV003638385 RCV003639361 RCV004595233 RCV002522771 RCV002526389 RCV002522780 RCV003103762 RCV002523420 RCV000853603 RCV002527816 RCV002527785 RCV003638678 RCV002526075 RCV002527801 RCV002528364 RCV002470934 RCV002529895 RCV002529923 RCV004786309 RCV002513428 RCV000678970 RCV001248793 RCV002533476 RCV002547161 RCV002547124 RCV002532206 RCV002533506 RCV002531451 RCV002533719 RCV002533615 RCV000790451 RCV002537344 RCV002534800 RCV002534771 RCV002538149 RCV002537074 RCV002537325 RCV002538155 RCV002535983 RCV002537232 RCV000853598 RCV002552507 RCV002554543 RCV002553827 RCV001089520 RCV001089518 RCV001198673 RCV002562463 RCV002560297 RCV002562356 RCV002563753 RCV002563674 RCV001258372 RCV001258371 RCV002544987 RCV002543200
Catecholaminergic polymorphic ventricular tachycardia 2	Likely pathogenic	rs1553322494	RCV000498399
Childhood-onset schizophrenia	Likely pathogenic	rs863223354, rs863223355	RCV000202345 RCV000202329
Conduction disorder of the heart	Likely pathogenic	rs1572627115, rs1688456281	RCV000845375 RCV001256931
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs730880199	RCV000157468
Long QT syndrome	Pathogenic; Likely pathogenic	rs794728721, rs794728740, rs794728783, rs121918602	RCV000190228 RCV003318367 RCV000190127 RCV000190229
Paroxysmal familial ventricular fibrillation	Likely pathogenic; Pathogenic	rs761834154	RCV003325995
RYR2-related disorder	Pathogenic; Likely pathogenic	rs794728708, rs794728712	RCV005222807 RCV003387588
Squamous cell lung carcinoma	Pathogenic	rs1553339086	RCV005896757
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Pathogenic; Likely pathogenic	rs2149352030, rs2149354389, rs1060500137, rs2527697526, rs2547411368, rs1658967336	RCV001814321 RCV001814322 RCV003147726 RCV003148100 RCV003990364 RCV001814262
Ventricular fibrillation	Pathogenic	rs190140598	RCV000202619

Show/Hide Unknown Diseases (48)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs577119352	RCV005891687
Arrhythmogenic right ventricular dysplasia 1	Uncertain significance	rs794728739, rs75901196	RCV001256778 RCV000211530
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	rs193922626	RCV000490834
Brugada syndrome	Uncertain significance	rs1553515461	RCV000584816
Cardiac arrest	Uncertain significance	rs730880198, rs869025507	RCV000157467 RCV000208358
Cervical cancer	Benign; Likely benign	rs577119352, rs199569629, rs184640069	RCV005891689 RCV005896755 RCV005904050
Clear cell carcinoma of kidney	Benign; Likely benign	rs561321743, rs56226196	RCV005888557 RCV005889023
Congestive heart failure	Uncertain significance	rs552050895	RCV000852417
Death in infancy	Conflicting classifications of pathogenicity	rs200236750	RCV000234976
Diastolic dysfunction	Uncertain significance	rs730880188	RCV000157449
Dilated cardiomyopathy 1C	Uncertain significance	rs765617616	RCV005054288
Dilated cardiomyopathy with left ventricular noncompaction	Conflicting classifications of pathogenicity	rs376788358	RCV000678751
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2547412755	RCV004557929
Familial cancer of breast	Benign; Likely benign	rs577119352, rs790897, rs147479514, rs790889	RCV005891686 RCV005888793 RCV005888799 RCV005889022
Familial pancreatic carcinoma	Benign; Likely benign	rs12127746, rs138346854	RCV005918338 RCV005903986
Gastric cancer	Likely benign; Benign	rs77082151, rs746044321, rs147479514, rs56226196, rs72549414	RCV005917547 RCV005926663 RCV005888800 RCV005889025 RCV005889031
Heart disease	Conflicting classifications of pathogenicity	rs376389213	RCV000208243
Hepatocellular carcinoma	Benign	rs72549414, rs477245	RCV005889028 RCV005902347
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs571985775, rs561321743, rs2009813, rs765369749, rs761505396, rs749032742, rs1553515422, rs377068202, rs200525962, rs764144130, rs1558350625, rs372880584, rs555692728, rs1572625235, rs1677785308 View all (4 more)	RCV000852418 RCV000852596 RCV000768527 RCV000768529 RCV001293045 RCV000498149 RCV000498468 RCV000768528 RCV001293091 RCV000768530 RCV000768525 RCV000768526 RCV001293046 RCV000852414 RCV001093545 RCV000999600 RCV000999590 RCV001089622 RCV001293090
Hypertrophic cardiomyopathy 4	Uncertain significance	rs1114167339	RCV000491281
Left ventricular noncompaction	Conflicting classifications of pathogenicity; Uncertain significance	rs571985775, rs1553325274	RCV000577938 RCV000577933
Long QT syndrome 1	Uncertain significance	rs773957909	RCV001256780
Lung cancer	Benign; Likely benign	rs182050281, rs199569629, rs790897, rs147479514, rs56226196, rs72549414, rs1023214	RCV005886818 RCV005896756 RCV005888798 RCV005888803 RCV005889027 RCV005889033 RCV005902209
Lymphoma	Benign; Likely benign	rs12127746, rs138346854	RCV005918339 RCV005903988
Malignant lymphoma, large B-cell, diffuse	Benign	rs1023214	RCV005902208
Malignant tumor of esophagus	Benign; Likely benign	rs577119352, rs199569629, rs790897, rs72549414, rs74724096	RCV005891688 RCV005896754 RCV005888794 RCV005889029 RCV005904202
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs12127746, rs790897, rs138346854	RCV005918336 RCV005888795 RCV005903985
Ovarian cancer	Benign	rs12127746	RCV005918337
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs12127746, rs790897, rs147479514, rs72549414, rs138346854, rs6657332, rs6699085	RCV005918340 RCV005888796 RCV005888801 RCV005889032 RCV005903989 RCV005906866 RCV005906868
Polymorphic ventricular tachycardia	Uncertain significance	rs201211033, rs376612295, rs189345192, rs786205273	RCV000148834 RCV000148835 RCV000148836 RCV000171566
Premature coronary artery atherosclerosis	Uncertain significance	rs745569662	RCV003444002
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs201675951, rs730880376, rs200420897, rs371966353, rs2546907092, rs759424061, rs747700917, rs750117613, rs193922624, rs1572596015, rs753758467	RCV000143946 RCV000157445 RCV000157460 RCV000157461 RCV002465035 RCV000208232 RCV000208270 RCV000208489 RCV000157452 RCV000850343 RCV000853123
Primary familial dilated cardiomyopathy	Uncertain significance	rs776550479, rs1386204884	RCV000845458 RCV000627134
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs201675951, rs530277653, rs727503400, rs561321743, rs730880189, rs730880190, rs568936247, rs201081663, rs730880197, rs869025510, rs869025511, rs869025512, rs869025513, rs377712921, rs869025516, rs869025515, rs780752317 View all (2 more)	RCV000157455 RCV000143949 RCV000157456 RCV000157448 RCV000157450 RCV000157451 RCV000157459 RCV000157463 RCV000157466 RCV000208419 RCV000208027 RCV000208461 RCV000208294 RCV000208123 RCV000208370 RCV000208318 RCV000208149
Sarcoma	Benign; Likely benign	rs56226196, rs72549414, rs138346854, rs114118501, rs184640069	RCV005889024 RCV005889030 RCV005903987 RCV005903965 RCV005904051
Squamous cell carcinoma of the head and neck	Likely benign	rs780244775	RCV005911324
Sudden cardiac arrest	Uncertain significance	rs1247067433	RCV001254774
Sudden cardiac death	Uncertain significance; Conflicting classifications of pathogenicity	rs1553341966, rs200525962	RCV000498389 RCV000157454
Sudden death	Conflicting classifications of pathogenicity	rs377068202	RCV000678750
Sudden unexplained death	Conflicting classifications of pathogenicity; Uncertain significance	rs200525962, rs1573821155	RCV001254751 RCV000853467
Syncope	Uncertain significance	rs1572596015	RCV000850327
Thymoma	Benign; Likely benign	rs790897, rs147479514, rs138346854	RCV005888797 RCV005888802 RCV005903990
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	rs2149344987, rs778111237, rs56226196	RCV005923936 RCV005892110 RCV005889026
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs376389213	RCV005893801
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	rs114307260, rs147479514, rs138346854, rs376243998, rs397516499	RCV005916436 RCV005888804 RCV005903991 RCV005908920 RCV005866838
Ventricular fibrillation, paroxysmal familial, type 1	Uncertain significance; Conflicting classifications of pathogenicity	rs730880200, rs193922623	RCV000157469 RCV000157446
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs752144775	RCV000208338
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	rs370103782, rs747447414, rs200070226, rs1009381849, rs773915323, rs201500134, rs201669522	RCV000656164 RCV000656162 RCV000656153 RCV000656175 RCV000656197 RCV000656198 RCV000656194

Show/Hide Text Mining Associations (106)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)