|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:RYR-2
gptkb:cardiac_muscle_ryanodine_receptor
gptkb:cardiac_ryanodine_receptor
|
|
gptkbp:associatedWith
|
gptkb:arrhythmogenic_right_ventricular_dysplasia
gptkb:catecholaminergic_polymorphic_ventricular_tachycardia
|
|
gptkbp:biologicalProcess
|
calcium channel activity
excitation-contraction coupling
regulation of heart contraction
|
|
gptkbp:cellularComponent
|
sarcoplasmic reticulum membrane
|
|
gptkbp:discoveredBy
|
Andrew R. Marks (and colleagues)
|
|
gptkbp:encodes
|
ryanodine receptor 2 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000198626
6262
|
|
gptkbp:expressedIn
|
heart
|
|
gptkbp:fullName
|
gptkb:ryanodine_receptor_2
|
|
gptkbp:function
|
calcium release channel in cardiac muscle
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
10483
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RYR2
|
|
gptkbp:length
|
4967 amino acids
|
|
gptkbp:locatedOnChromosome
|
1q43
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
|
|
gptkbp:OMIM
|
180902
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ryr2
|
|
gptkbp:PDB
|
gptkb:5GO9
gptkb:5TAL
gptkb:5TAP
gptkb:5TAQ
gptkb:5TAR
gptkb:5TBC
gptkb:5TBE
gptkb:5TBF
gptkb:5TBG
gptkb:5TBH
gptkb:5TBI
gptkb:5TBJ
gptkb:5TBK
gptkb:5TBL
gptkb:5TBM
gptkb:5TBN
gptkb:5TBO
gptkb:5TBP
gptkb:5TBQ
gptkb:5TBR
gptkb:5TBS
gptkb:5TBT
gptkb:5TBU
5TAS
5TAT
5TAU
5TAV
5TAW
5TAX
5TAY
5TAZ
5TB0
5TB1
5TB2
5TB3
5TB4
5TB5
5TB6
5TB7
5TB8
5TB9
5TBA
5TBB
5TBD
5TBV
5TBW
5TBX
5TBY
5TBZ
5TC0
5TC1
5TC2
5TC3
5TC4
5TC5
5TC6
5TC7
5TC8
5TC9
5TCA
5TCB
5TCC
5TCD
5TCE
5TCF
5TCG
5TCH
5TCI
5TCJ
5TCK
5TCL
5TCM
5TCN
5TCO
5TCP
5TCQ
5TCR
5TCS
5TCT
5TCU
5TCV
5TCW
5TCX
5TCY
5TCZ
6JI8
|
|
gptkbp:proteinFamily
|
gptkb:ryanodine_receptor_family
|
|
gptkbp:UniProtID
|
gptkb:Q92736
|
|
gptkbp:bfsParent
|
gptkb:RYR
|
|
gptkbp:bfsLayer
|
6
|