RYR3 (ryanodine receptor 3)

2013-05-01  

Identity

HGNC
RYR3
LOCATION
15q13.3
LOCUSID
6263
ALIAS
RYR-3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6263
MIM: 180903
HGNC: 10485
Ensembl: ENSG00000198838

Variants:

dbSNP: 6263
ClinVar: 6263
TCGA: ENSG00000198838
COSMIC: RYR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198838ENST00000389232A0A0X1KG73
ENSG00000198838ENST00000415757Q15413
ENSG00000198838ENST00000622037A0A087X080
ENSG00000198838ENST00000634418A0A0U1RRH1
ENSG00000198838ENST00000634730A0A0U1RR54
ENSG00000198838ENST00000634750A0A0U1RR21
ENSG00000198838ENST00000634891Q15413
ENSG00000198838ENST00000635790A0A1B0GTF2
ENSG00000198838ENST00000635842A0A1B0GVA9
ENSG00000198838ENST00000636568A0A1B0GVS2
ENSG00000198838ENST00000636845A0A1B0GUB0
ENSG00000198838ENST00000637948A0A1B0GTT7
ENSG00000198838ENST00000638032A0A1B0GU27

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Alzheimer's diseaseKEGGko05010
Calcium signaling pathwayKEGGhsa04020
Alzheimer's diseaseKEGGhsa05010
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Apelin signaling pathwayKEGGhsa04371

References

Pubmed IDYearTitleCitations
259666942015Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218109882011Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification.48
13202901992Expression of a ryanodine receptor-Ca2+ channel that is regulated by TGF-beta.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
93845751997Requirement for the ryanodine receptor type 3 for efficient contraction in neonatal skeletal muscles.43
195816032009Association between statin-associated myopathy and skeletal muscle damage.43
215310432012Altered ryanodine receptor expression in mild cognitive impairment and Alzheimer's disease.42
105081601999Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning.38
200099182010A genome-wide association study of carotid atherosclerosis in HIV-infected men.24

Citation

Dessen P

RYR3 (ryanodine receptor 3)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53267/ryr3