|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:RYR-2
gptkb:CPVT1
ARVD2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:amendedBy
|
phosphorylation
oxidation
nitrosylation
|
|
gptkbp:associatedWith
|
gptkb:arrhythmogenic_right_ventricular_dysplasia
gptkb:catecholaminergic_polymorphic_ventricular_tachycardia
sudden cardiac death
|
|
gptkbp:biologicalProcess
|
calcium channel activity
excitation-contraction coupling
regulation of heart rate
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Andrew R. Marks
|
|
gptkbp:encodes
|
gptkb:ryanodine_receptor_2
|
|
gptkbp:Entrez_Gene_ID
|
6262
|
|
gptkbp:expressedIn
|
brain
heart
|
|
gptkbp:firstDescribed
|
1989
|
|
gptkbp:fullName
|
gptkb:ryanodine_receptor_2
|
|
gptkbp:function
|
calcium release channel in cardiac muscle
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
10484
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RYR2 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:calmodulin
gptkb:protein_kinase_A
gptkb:FKBP12.6
|
|
gptkbp:length
|
4967 amino acids
approximately 791 kb
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q43
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
|
|
gptkbp:numberOfExons
|
105
|
|
gptkbp:OMIM
|
180902
|
|
gptkbp:orthologInMouse
|
gptkb:Ryr2
|
|
gptkbp:pathway
|
cardiac muscle contraction
calcium signaling pathway
adrenergic signaling in cardiomyocytes
|
|
gptkbp:proteinFamily
|
gptkb:ryanodine_receptor_family
|
|
gptkbp:referenceGenome
|
gptkb:NM_001035
|
|
gptkbp:referenceSequenceProtein
|
NP_001026
|
|
gptkbp:subcellularLocation
|
sarcoplasmic reticulum membrane
|
|
gptkbp:UniProtID
|
gptkb:Q92736
|
|
gptkbp:bfsParent
|
gptkb:ryanodine_receptor_family
|
|
gptkbp:bfsLayer
|
7
|