ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

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	chr1:237205505-237997288, 1
External Links	HGNC: 10484 Entrez Gene: 6262 Ensembl: ENSG00000198626 UCSC: uc001hyl.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_45	chr1:235967993-237757467 (NCBI Build 36.1 (hg18))	1739833	1q43	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 54)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005262	calcium channel activity	molecular function	ISS	20

GO terms by database search (count: 53)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	biological process	ISS	1
GO:0005516	calmodulin binding	molecular function	IMP[19220289]; IPI; ISS	33
GO:0008627	intrinsic apoptotic signaling pathway in response to osmotic stress	biological process	IDA[15044459]	1
GO:0055117	regulation of cardiac muscle contraction	biological process	IMP[11159936]	4
GO:0016529	sarcoplasmic reticulum	cellular component	IDA[12919952]	12
GO:0043234	protein complex	cellular component	IDA[18468998]	47
GO:0001666	response to hypoxia	biological process	ISS	41
GO:0015278	calcium-release channel activity	molecular function	IDA[17921453]	4
GO:0005509	calcium ion binding	molecular function	IEA	140
GO:0006874	cellular calcium ion homeostasis	biological process	ISS	15
GO:0051284	positive regulation of sequestering of calcium ion	biological process	IDA[12919952]	1
GO:0005515	protein binding	molecular function	IPI[10830164]	1015
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	ISS	1
GO:0071313	cellular response to caffeine	biological process	IDA[12919952]; ISS	4
GO:0060402	calcium ion transport into cytosol	biological process	IDA[17921453]	4
GO:0086029	Purkinje myocyte to ventricular cardiac muscle cell signaling	biological process	ISS	1
GO:0086005	regulation of ventricular cardiac muscle cell action potential	biological process	ISS	5
GO:0003143	embryonic heart tube morphogenesis	biological process	ISS	3
GO:0005219	ryanodine-sensitive calcium-release channel activity	molecular function	IDA[17921453]	3
GO:0060048	cardiac muscle contraction	biological process	IMP[10830164]	9
GO:0002027	regulation of heart rate	biological process	IMP[11159936]	5
GO:0035584	calcium-mediated signaling using intracellular calcium source	biological process	IDA[17921453]	2
GO:0051209	release of sequestered calcium ion into cytosol	biological process	IDA[17921453]; ISS	9
GO:0033017	sarcoplasmic reticulum membrane	cellular component	ISS; TAS[19095005]	9
GO:0051775	response to redox state	biological process	IDA[19226252]	1
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	biological process	IC[19220289]; ISS	4
GO:0060070	canonical Wnt receptor signaling pathway	biological process	IEA	16
GO:0044325	ion channel binding	molecular function	ISS	16
GO:0034236	protein kinase A catalytic subunit binding	molecular function	IDA[10830164]	2
GO:0042802	identical protein binding	molecular function	IPI[10830164]	77
GO:0006816	calcium ion transport	biological process	IDA[17921453]	32
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	IC	3
GO:0072599	establishment of protein localization to endoplasmic reticulum	biological process	IDA[12443530]	1
GO:0003300	cardiac muscle hypertrophy	biological process	ISS	2
GO:0005218	intracellular ligand-gated calcium channel activity	molecular function	ISS	2
GO:0010460	positive regulation of heart rate	biological process	ISS	4
GO:0016020	membrane	cellular component	IDA[12443530]	155
GO:0043621	protein self-association	molecular function	IEA	9
GO:0034237	protein kinase A regulatory subunit binding	molecular function	IDA[10830164]	2
GO:0005886	plasma membrane	cellular component	ISS	839
GO:0070296	sarcoplasmic reticulum calcium ion transport	biological process	TAS[19095005]	1
GO:0030509	BMP signaling pathway	biological process	IEA	4
GO:0034704	calcium channel complex	cellular component	IDA[10830164]	4
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	biological process	IMP[12919952]; ISS	4
GO:0005513	detection of calcium ion	biological process	IDA[10830164]	4
GO:0043924	suramin binding	molecular function	IMP[19220289]	1
GO:0030018	Z disc	cellular component	ISS	17
GO:0048763	calcium-induced calcium release activity	molecular function	IDA[17921453]	1
GO:0019722	calcium-mediated signaling	biological process	ISS	8
GO:0014701	junctional sarcoplasmic reticulum membrane	cellular component	TAS[17569730]	4
GO:0031000	response to caffeine	biological process	IDA[17921453]	6
GO:1901896	positive regulation of calcium-transporting ATPase activity	biological process	IDA[12443530]	1
GO:0051480	cytosolic calcium ion homeostasis	biological process	ISS	6

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04020	Calcium signaling pathway	66

Genes shared at least 5 GO terms with RYR2 (count: 24)

Gene Symbol	Pathway Count	Pathway List
RYR1	16	calmodulin binding; sarcoplasmic reticulum; response to hypoxia; calcium-release channel activity; calcium ion binding; cellular response to caffeine; ryanodine-sensitive calcium-release channel activity; release of sequestered calcium ion into cytosol; sarcoplasmic reticulum membrane; calcium channel activity; calcium ion transport; plasma membrane; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; junctional sarcoplasmic reticulum membrane; response to caffeine; cytosolic calcium ion homeostasis;
RYR3	8	calmodulin binding; calcium-release channel activity; calcium ion binding; cellular calcium ion homeostasis; cellular response to caffeine; ryanodine-sensitive calcium-release channel activity; sarcoplasmic reticulum membrane; calcium ion transport;
PLN	8	sarcoplasmic reticulum; protein complex; protein binding; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; identical protein binding; calcium ion transport; membrane; cytosolic calcium ion homeostasis;
CACNA1C	7	calmodulin binding; protein binding; calcium ion transport into cytosol; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; cell communication by electrical coupling involved in cardiac conduction; plasma membrane; Z disc;
ATP2A1	7	sarcoplasmic reticulum; calcium ion binding; protein binding; sarcoplasmic reticulum membrane; calcium ion transport; membrane; calcium channel complex;
TRPC1	7	protein complex; protein binding; ion channel binding; calcium channel activity; calcium ion transport; plasma membrane; cytosolic calcium ion homeostasis;
SYT1	6	calmodulin binding; calcium ion binding; protein binding; identical protein binding; plasma membrane; detection of calcium ion;
CAMK2D	6	calmodulin binding; cardiac muscle contraction; sarcoplasmic reticulum membrane; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; calcium ion transport; plasma membrane;
CAV3	6	regulation of cardiac muscle contraction; protein binding; regulation of heart rate; ion channel binding; plasma membrane; Z disc;
PAK1	6	protein complex; response to hypoxia; protein binding; identical protein binding; plasma membrane; Z disc;
DRD2	6	response to hypoxia; cellular calcium ion homeostasis; protein binding; regulation of heart rate; release of sequestered calcium ion into cytosol; plasma membrane;
CDH23	6	calcium ion binding; protein binding; calcium ion transport; membrane; plasma membrane; cytosolic calcium ion homeostasis;
SCN3B	6	regulation of ventricular cardiac muscle cell action potential; cardiac muscle contraction; ion channel binding; positive regulation of heart rate; plasma membrane; Z disc;
NOS1	5	calmodulin binding; regulation of cardiac muscle contraction; sarcoplasmic reticulum; response to hypoxia; protein binding;
TRDN	5	sarcoplasmic reticulum; ion channel binding; plasma membrane; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; junctional sarcoplasmic reticulum membrane;
AKAP7	5	sarcoplasmic reticulum; protein complex; protein binding; protein kinase A regulatory subunit binding; plasma membrane;
STK11	5	protein complex; protein binding; canonical Wnt receptor signaling pathway; identical protein binding; membrane;
GOPC	5	protein complex; protein binding; ion channel binding; membrane; plasma membrane;
PANX1	5	protein complex; ion channel binding; calcium channel activity; calcium ion transport; plasma membrane;
ITPR1	5	response to hypoxia; protein binding; release of sequestered calcium ion into cytosol; calcium ion transport; intracellular ligand-gated calcium channel activity;
CCR5	5	protein binding; calcium ion transport; plasma membrane; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; calcium-mediated signaling;
GRIN3A	5	protein binding; calcium channel activity; identical protein binding; calcium ion transport; membrane;
TCAP	5	protein binding; cardiac muscle contraction; ion channel binding; cardiac muscle hypertrophy; Z disc;
AXIN1	5	protein binding; canonical Wnt receptor signaling pathway; identical protein binding; protein self-association; plasma membrane;

Genes shared at least 2 KEGG pathways with RYR2 (count: 0)

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Region: chr1:237205505..237997288 View in gBrowse