ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	RYR3
Approved Name	ryanodine receptor 3
Location	15q14-q15
Position	chr15:33603177-34158303, +
External Links	HGNC: 10485 Entrez Gene: 6263 Ensembl: ENSG00000198838 UCSC: uc001zhi.2
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]_44	chr15:30688712-32587887 (NCBI Build 36.1 (hg18))	1871368	15q13.3-15q14	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 17)

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: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005509	calcium ion binding	Molecular Function		124
GO:0006816	calcium ion transport	Biological Process	IMP[9395096]	32
GO:0005516	calmodulin binding	Molecular Function		32
GO:0006941	striated muscle contraction	Biological Process		4
GO:0006874	cellular calcium ion homeostasis	Biological Process		16
GO:0016021	integral to membrane	Cellular Component		845
GO:0015278	calcium-release channel activity	Molecular Function	IMP[9395096]	4
GO:0005219	ryanodine-sensitive calcium-release channel activity	Molecular Function	TAS[19095005]	3
GO:0071318	cellular response to ATP	Biological Process		1
GO:0071313	cellular response to caffeine	Biological Process		4
GO:0071286	cellular response to magnesium ion	Biological Process		2
GO:0071277	cellular response to calcium ion	Biological Process		4
GO:0070588	calcium ion transmembrane transport	Biological Process		7
GO:0051289	protein homotetramerization	Biological Process		9
GO:0033017	sarcoplasmic reticulum membrane	Cellular Component		8
GO:0030314	junctional membrane complex	Cellular Component		3

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. 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...
hsa04970	Salivary secretion	22	Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. More...

Genes shared at least 5 GO terms with RYR3 (count: 2)

Gene Symbol	Pathway Count	Pathway List
RYR1	9	calcium ion binding; calcium channel activity; calcium ion transport; calmodulin binding; calcium-release channel activity; ryanodine-sensitive calcium-release channel activity; cellular response to caffeine; sarcoplasmic reticulum membrane; junctional membrane complex;
RYR2	9	calcium ion binding; calcium channel activity; calcium ion transport; calmodulin binding; cellular calcium ion homeostasis; calcium-release channel activity; ryanodine-sensitive calcium-release channel activity; cellular response to caffeine; sarcoplasmic reticulum membrane;

Genes shared at least 2 KEGG pathways with RYR3 (count: 21)

Gene Symbol	Pathway Count	Pathway List
ITPR1	3	Alzheimer's disease; Calcium signaling pathway; Salivary secretion;
ITPR2	3	Alzheimer's disease; Calcium signaling pathway; Salivary secretion;
NOS1	3	Alzheimer's disease; Calcium signaling pathway; Salivary secretion;
PLCB2	3	Alzheimer's disease; Calcium signaling pathway; Salivary secretion;
PLCB3	3	Alzheimer's disease; Calcium signaling pathway; Salivary secretion;
CACNA1C	2	Alzheimer's disease; Calcium signaling pathway;
CACNA1D	2	Alzheimer's disease; Calcium signaling pathway;
CACNA1F	2	Alzheimer's disease; Calcium signaling pathway;
CACNA1S	2	Alzheimer's disease; Calcium signaling pathway;
GRIN2A	2	Alzheimer's disease; Calcium signaling pathway;
PPP3R2	2	Alzheimer's disease; Calcium signaling pathway;
ADCY4	2	Calcium signaling pathway; Salivary secretion;
ADRA1A	2	Calcium signaling pathway; Salivary secretion;
ADRA1B	2	Calcium signaling pathway; Salivary secretion;
ADRA1D	2	Calcium signaling pathway; Salivary secretion;
ADRB1	2	Calcium signaling pathway; Salivary secretion;
ADRB2	2	Calcium signaling pathway; Salivary secretion;
ADRB3	2	Calcium signaling pathway; Salivary secretion;
ATP2B3	2	Calcium signaling pathway; Salivary secretion;
CHRM3	2	Calcium signaling pathway; Salivary secretion;
PRKCB	2	Calcium signaling pathway; Salivary secretion;

View in gBrowse

Region: chr15:33603177..34158303 View in gBrowse