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	RYR1
Previous Symbol	MHS, MHS1, CCO
Symbol Alias	RYR
Approved Name	ryanodine receptor 1 (skeletal)
Previous Name	central core disease of muscle
Location	19q13.1
Position	chr19:38924340-39078204, +
External Links	HGNC: 10483 Entrez Gene: 6261 Ensembl: ENSG00000196218 UCSC: uc002oit.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 31)

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		40

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0071313	cellular response to caffeine	Biological Process		4
GO:0048741	skeletal muscle fiber development	Biological Process		1
GO:0043931	ossification involved in bone maturation	Biological Process		2
GO:0051480	cytosolic calcium ion homeostasis	Biological Process		6
GO:0051209	release of sequestered calcium ion into cytosol	Biological Process		9
GO:0031674	I band	Cellular Component	IDA[11206130]	6
GO:0031000	response to caffeine	Biological Process		6
GO:0043588	skin development	Biological Process		7
GO:0033017	sarcoplasmic reticulum membrane	Cellular Component		8
GO:0016529	sarcoplasmic reticulum	Cellular Component		11
GO:0015278	calcium-release channel activity	Molecular Function	TAS[9030597]	4
GO:0030315	T-tubule	Cellular Component		12
GO:0030314	junctional membrane complex	Cellular Component		3
GO:0014701	junctional sarcoplasmic reticulum membrane	Cellular Component	TAS[19095005]	4
GO:0006936	muscle contraction	Biological Process		18
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	Biological Process		4
GO:0014802	terminal cisterna	Cellular Component	ISS[1374404]	1
GO:0005886	plasma membrane	Cellular Component	IDA[11206130]	772
GO:0005887	integral to plasma membrane	Cellular Component	TAS[2298749]	220
GO:0005938	cell cortex	Cellular Component	IDA[11206130]	26
GO:0006816	calcium ion transport	Biological Process		32
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005516	calmodulin binding	Molecular Function		32
GO:0005737	cytoplasm	Cellular Component	IDA[11206130]	690
GO:0005790	smooth endoplasmic reticulum	Cellular Component	TAS[2298749]	2
GO:0003151	outflow tract morphogenesis	Biological Process		12
GO:0005219	ryanodine-sensitive calcium-release channel activity	Molecular Function	TAS[19095005]	3
GO:0005245	voltage-gated calcium channel activity	Molecular Function		22
GO:0001666	response to hypoxia	Biological Process	IDA[19120137]	34
GO:0002020	protease binding	Molecular Function		13

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04730	Long-term depression	27	Cerebellar long-term depression (LTD), thought to be a molec...... Cerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and Purkinje cells (PCs) induced by the conjunctive activation of PFs and climbing fiber (CF). Multiple signal transduction pathways have been shown to be involved in this process. Activation of PFs terminating on spines in dendritic branchlets leads to glutamate release and activation of both AMPA and mGluRs. Activation of CFs, which make multiple synaptic contacts on proximal dendrites, also via AMPA receptors, opens voltage-gated calcium channels (VGCCs) and causes a generalized influx of calcium. These cellular signals, generated from two different synaptic origins, trigger a cascade of events culminating in a phosphorylation-dependent, long-term reduction in AMPA receptor sensitivity at the PF-PC synapse. This may take place either through receptor internalization and/or through receptor desensitization. More...
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...

Genes shared at least 5 GO terms with RYR1 (count: 10)

Gene Symbol	Pathway Count	Pathway List
RYR2	16	cellular response to caffeine; cytosolic calcium ion homeostasis; release of sequestered calcium ion into cytosol; response to caffeine; sarcoplasmic reticulum membrane; sarcoplasmic reticulum; calcium-release channel activity; junctional sarcoplasmic reticulum membrane; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; plasma membrane; calcium ion transport; calcium ion binding; calmodulin binding; ryanodine-sensitive calcium-release channel activity; calcium channel activity; response to hypoxia;
RYR3	9	cellular response to caffeine; sarcoplasmic reticulum membrane; calcium-release channel activity; junctional membrane complex; calcium ion transport; calcium ion binding; calmodulin binding; ryanodine-sensitive calcium-release channel activity; calcium channel activity;
CACNA1S	9	I band; sarcoplasmic reticulum; T-tubule; muscle contraction; plasma membrane; calcium ion transport; cytoplasm; voltage-gated calcium channel activity; calcium channel activity;
TRDN	6	sarcoplasmic reticulum; junctional sarcoplasmic reticulum membrane; muscle contraction; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; plasma membrane; cytoplasm;
TRPC1	5	cytosolic calcium ion homeostasis; plasma membrane; integral to plasma membrane; calcium ion transport; calcium channel activity;
CAMK2D	5	sarcoplasmic reticulum membrane; T-tubule; plasma membrane; calcium ion transport; calmodulin binding;
CACNA2D1	5	sarcoplasmic reticulum; T-tubule; calcium ion transport; voltage-gated calcium channel activity; calcium channel activity;
CCR5	5	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; plasma membrane; integral to plasma membrane; calcium ion transport; cytoplasm;
CACNA1C	5	plasma membrane; calmodulin binding; cytoplasm; voltage-gated calcium channel activity; calcium channel activity;
GRM7	5	plasma membrane; integral to plasma membrane; cell cortex; calcium ion binding; voltage-gated calcium channel activity;

Genes shared at least 2 KEGG pathways with RYR1 (count: 9)

Gene Symbol	Pathway Count	Pathway List
CACNA1A	2	Long-term depression; Calcium signaling pathway;
GRM1	2	Long-term depression; Calcium signaling pathway;
GRM5	2	Long-term depression; Calcium signaling pathway;
ITPR1	2	Long-term depression; Calcium signaling pathway;
ITPR2	2	Long-term depression; Calcium signaling pathway;
NOS1	2	Long-term depression; Calcium signaling pathway;
PLCB2	2	Long-term depression; Calcium signaling pathway;
PLCB3	2	Long-term depression; Calcium signaling pathway;
PRKCB	2	Long-term depression; Calcium signaling pathway;

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Region: chr19:38924340..39078204 View in gBrowse