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)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 17)
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.
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|
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).
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|
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.
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|
Genes shared at least 5 GO terms with RYR3 (count: 2)
Genes shared at least 2 KEGG pathways with RYR3 (count: 21)
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