RYR2 (ryanodine receptor 2)

2007-06-01  

Identity

HGNC
RYR2
LOCATION
1q43
LOCUSID
6262
ALIAS
ARVC2,ARVD2,RYR-2,RyR,VACRDS,VTSIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6262
MIM: 180902
HGNC: 10484
Ensembl: ENSG00000198626

Variants:

dbSNP: 6262
ClinVar: 6262
TCGA: ENSG00000198626
COSMIC: RYR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198626ENST00000360064H7BY35
ENSG00000198626ENST00000366574Q92736
ENSG00000198626ENST00000609119A0A590UK06
ENSG00000198626ENST00000659194A0A590UJZ8
ENSG00000198626ENST00000660292A0A590UKB7
ENSG00000198626ENST00000661330A0A590UJF6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Calcium signaling pathwayKEGGhsa04020
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123311catecholaminergic polymorphic ventricular tachycardiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociatedPD25753936, 27839692
PA445549RhabdomyolysisDiseaseClinicalAnnotationassociatedPD21386754
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD25753936, 27839692
PA448897cerivastatinChemicalClinicalAnnotationassociatedPD21386754
PA451363simvastatinChemicalClinicalAnnotationassociatedPD25753936, 27839692

References

Pubmed IDYearTitleCitations
378900992024Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.1
384445852024Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.0
384799592024RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.0
378900992024Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.1
384445852024Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.0
384799592024RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy.0
360829682023A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia.1
364530192023Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis.3
365833842023RyR2 Serine-2030 PKA Site Governs Ca(2+) Release Termination and Ca(2+) Alternans.0
366934542023Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.2
371222072023Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants.4
374929472023RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.0
374955812023Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR).2
375324952023[Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene].0
376397762023Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China.0

Citation

Dessen P

RYR2 (ryanodine receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47558