RYR3 (ryanodine receptor 3)

2013-05-01 Affiliation

Identity

HGNC

RYR3

LOCATION

15q13.3

LOCUSID

6263

ALIAS

RYR-3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198838	ENST00000389232	A0A0X1KG73
ENSG00000198838	ENST00000415757	Q15413
ENSG00000198838	ENST00000622037	A0A087X080
ENSG00000198838	ENST00000634418	A0A0U1RRH1
ENSG00000198838	ENST00000634730	A0A0U1RR54
ENSG00000198838	ENST00000634750	A0A0U1RR21
ENSG00000198838	ENST00000634891	Q15413
ENSG00000198838	ENST00000635790	A0A1B0GTF2
ENSG00000198838	ENST00000635842	A0A1B0GVA9
ENSG00000198838	ENST00000636568	A0A1B0GVS2
ENSG00000198838	ENST00000636845	A0A1B0GUB0
ENSG00000198838	ENST00000637948	A0A1B0GTT7
ENSG00000198838	ENST00000638032	A0A1B0GU27

Expression (GTEx)

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

Pathway	Source	External ID
Calcium signaling pathway	KEGG	ko04020
Alzheimer's disease	KEGG	ko05010
Calcium signaling pathway	KEGG	hsa04020
Alzheimer's disease	KEGG	hsa05010
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Muscle contraction	REACTOME	R-HSA-397014
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Stimuli-sensing channels	REACTOME	R-HSA-2672351
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775
Apelin signaling pathway	KEGG	hsa04371

References

Pubmed ID	Year	Title	Citations
31680123	2020	The genomic and clinical landscape of fetal akinesia.	17
31680123	2020	The genomic and clinical landscape of fetal akinesia.	17
31263958	2019	Altered ryanodine receptor gene expression in Hirschsprung's disease.	1
31263958	2019	Altered ryanodine receptor gene expression in Hirschsprung's disease.	1
29590321	2018	Polymorphisms Within RYR3 Gene Are Associated With Risk and Age at Onset of Hypertension, Diabetes, and Alzheimer's Disease.	13
29590321	2018	Polymorphisms Within RYR3 Gene Are Associated With Risk and Age at Onset of Hypertension, Diabetes, and Alzheimer's Disease.	13
28827537	2017	Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.	9
28827537	2017	Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.	9
27858853	2016	Genome-wide linkage analysis and regional fine mapping identified variants in the RYR3 gene as a novel quantitative trait locus for circulating adiponectin in Chinese population.	3
27858853	2016	Genome-wide linkage analysis and regional fine mapping identified variants in the RYR3 gene as a novel quantitative trait locus for circulating adiponectin in Chinese population.	3
25500725	2015	Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.	1
25966694	2015	Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.	102
25500725	2015	Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.	1
25966694	2015	Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.	102
24026422	2014	Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.	20

Citation

Dessen P

RYR3 (ryanodine receptor 3)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

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