Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	RYR2
Previous Symbol	ARVD2
Symbol Alias	ARVC2, VTSIP
Approved Name	ryanodine receptor 2 (cardiac)
Previous Name	arrhythmogenic right ventricular dysplasia 2
Location	1q43
Position	chr1:237042205-237833988, 1
External Links	HGNC: 10484 Entrez Gene: 6262 Ensembl: ENSG00000198626 UCSC: uc001hyl.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Prabhu, S.,2012		We found a significant interaction between SNPs located within genes encoding two calcium channel subunits: RYR2 on chr1q43 and CACNA2D4 on chr12p13 (LD-contrast test, )	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 69)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	ISS	360
GO:0005516	calmodulin binding	molecular function	IMP[19220289]; IPI[23040497]; ISS	20
GO:0005262	calcium channel activity	molecular function	ISS	9
GO:0006816	calcium ion transport	biological process	IDA[17921453]	14
GO:0016020	membrane	cellular component	IDA[12443530]	137
GO:0005509	calcium ion binding	molecular function	IEA	50

GO terms by database search (count: 63)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030018	Z disc	cellular component	ISS	16
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling	biological process	ISS	1
GO:0060070	canonical Wnt signaling pathway	biological process	IEA	9
GO:0035584	calcium-mediated signaling using intracellular calcium source	biological process	IDA[17921453]	4
GO:0044325	ion channel binding	molecular function	ISS	14
GO:0003300	cardiac muscle hypertrophy	biological process	ISS	1
GO:0002027	regulation of heart rate	biological process	IMP[11159936]	5
GO:0034237	protein kinase A regulatory subunit binding	molecular function	IDA[10830164]	1
GO:0031000	response to caffeine	biological process	IDA[17921453]	3
GO:0014850	response to muscle activity	biological process	IMP[17875969]	2
GO:0006874	cellular calcium ion homeostasis	biological process	ISS	16
GO:0098910	regulation of atrial cardiac muscle cell action potential	biological process	IMP[17875969]	3
GO:0019899	enzyme binding	molecular function	IPI[16213210]	34
GO:0015278	calcium-release channel activity	molecular function	IDA[17921453]	1
GO:0098911	regulation of ventricular cardiac muscle cell action potential	biological process	IMP[17875969]	3
GO:0098907	regulation of SA node cell action potential	biological process	IMP[17875969]	2
GO:0043924	suramin binding	molecular function	IMP[19220289]	1
GO:0010460	positive regulation of heart rate	biological process	ISS	3
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0001666	response to hypoxia	biological process	ISS	24
GO:0051775	response to redox state	biological process	IDA[19226252]	4
GO:0019722	calcium-mediated signaling	biological process	ISS	9
GO:0005218	intracellular ligand-gated calcium channel activity	molecular function	ISS	1
GO:0005790	smooth endoplasmic reticulum	cellular component	IEA	3
GO:0086094	positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction	biological process	IEA	1
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:1901896	positive regulation of calcium-transporting ATPase activity	biological process	IDA[12443530]	1
GO:0051209	release of sequestered calcium ion into cytosol	biological process	IDA[12443530]; ISS	7
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	biological process	ISS	1
GO:0043621	protein self-association	molecular function	IEA	4
GO:0051284	positive regulation of sequestering of calcium ion	biological process	IDA[12443530]	1
GO:0098735	positive regulation of the force of heart contraction	biological process	IMP[15105296]	2
GO:0030509	BMP signaling pathway	biological process	IEA	6
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	biological process	IMP[12919952]; ISS	1
GO:0005515	protein binding	molecular function	IPI[10830164]	563
GO:0005219	ryanodine-sensitive calcium-release channel activity	molecular function	IDA[17921453]	1
GO:0086005	ventricular cardiac muscle cell action potential	biological process	ISS	3
GO:0098904	regulation of AV node cell action potential	biological process	IMP[17875969]	2
GO:0055117	regulation of cardiac muscle contraction	biological process	IMP[11159936]	6
GO:0071313	cellular response to caffeine	biological process	IDA[12919952]; ISS	1
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	IC	7
GO:0034704	calcium channel complex	cellular component	IDA[10830164]	2
GO:0033017	sarcoplasmic reticulum membrane	cellular component	ISS; TAS[19095005]	2
GO:0060402	calcium ion transport into cytosol	biological process	IDA[17921453]	3
GO:0071872	cellular response to epinephrine stimulus	biological process	ISS; TAS[23507255]	3
GO:0048763	calcium-induced calcium release activity	molecular function	IDA[17921453]	1
GO:0014701	junctional sarcoplasmic reticulum membrane	cellular component	TAS[17569730]	1
GO:0051480	cytosolic calcium ion homeostasis	biological process	ISS	1
GO:0042802	identical protein binding	molecular function	IPI[10830164]	44
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	biological process	IC[19220289]; ISS	4
GO:0034236	protein kinase A catalytic subunit binding	molecular function	IDA[10830164]	4
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	biological process	IMP[17875969]	3
GO:0097050	type B pancreatic cell apoptotic process	biological process	IMP[15044459]	2
GO:0043234	protein complex	cellular component	IDA[18468998]	27
GO:0003143	embryonic heart tube morphogenesis	biological process	ISS	2
GO:0035994	response to muscle stretch	biological process	IMP[15105296]	1
GO:0072599	establishment of protein localization to endoplasmic reticulum	biological process	IDA[12443530]	1
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0016529	sarcoplasmic reticulum	cellular component	IDA[10830164]	6
GO:0005513	detection of calcium ion	biological process	IDA[10830164]	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0060048	cardiac muscle contraction	biological process	IMP[10830164]	5
GO:0070296	sarcoplasmic reticulum calcium ion transport	biological process	TAS[19095005]	4

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
no1Pathway	Actions of Nitric Oxide in the Heart	9

Gene related interactors from protein-protein interactions data in HPRD (count: 11)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RYR2	ITPR1	NO	in vivo	12754204
RYR2	ALB	NO	in vivo	15174051
RYR2	SRI	NO	in vivo	7592856
RYR2	HOMER1	NO	in vitro;in vivo	12887973
RYR2	PRKACA	NO	in vitro;in vivo	10830164
RYR2	FKBP1B	NO	in vitro;in vivo;yeast 2-hybrid	12446682 , 12443530 , 10830164 , 11237759
RYR2	SMAD5	NO	yeast 2-hybrid	15231748
RYR2	RYR3	NO	in vivo	12213830
RYR2	RYR1	NO	in vivo	12213830
RYR2	PRKAR2A	NO	in vitro;in vivo	10830164
RYR2	AKAP6	NO	in vivo	11352932

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
21912391	genes significantly affected in female MDD subjects	Pos	RYR2

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Region: chr1:237042205..237833988 View in gBrowse