|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:cardiac_ryanodine_receptor
|
|
gptkbp:associatedWith
|
gptkb:arrhythmogenic_right_ventricular_dysplasia
gptkb:catecholaminergic_polymorphic_ventricular_tachycardia
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for RYR2 mutations
|
|
gptkbp:discoveredBy
|
gptkb:Andrew_Marks
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodedBy
|
gptkb:RYR2_gene
|
|
gptkbp:expressedIn
|
brain
heart
|
|
gptkbp:fullName
|
gptkb:Ryanodine_receptor_2
|
|
gptkbp:function
|
calcium release channel
regulation of cardiac muscle contraction
|
|
gptkbp:gene
|
gptkb:RYR2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RYR-2
|
|
gptkbp:interactsWith
|
gptkb:calmodulin
gptkb:FKBP12.6
gptkb:calsequestrin_2
gptkb:junctin
gptkb:triadin
|
|
gptkbp:locatedOnChromosome
|
1q43
|
|
gptkbp:location
|
sarcoplasmic reticulum
|
|
gptkbp:modulatedBy
|
gptkb:dantrolene
caffeine
phosphorylation
oxidation
ryanodine
nitrosylation
|
|
gptkbp:molecularWeight
|
approximately 565 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
180902
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:PDB
|
gptkb:5GO9
gptkb:5TAL
6JI8
|
|
gptkbp:relatedTo
|
excitation-contraction coupling
calcium-induced calcium release
|
|
gptkbp:subunit
|
homotetramer
|
|
gptkbp:targetOfDrug
|
arrhythmia treatment
|
|
gptkbp:UniProtID
|
gptkb:Q92736
|
|
gptkbp:bfsParent
|
gptkb:RYR2
|
|
gptkbp:bfsLayer
|
7
|