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gptkbp:instanceOf
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gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:ANK2
gptkb:ankyrin_2
|
|
gptkbp:associatedWith
|
gptkb:arrhythmia
long QT syndrome type 4
|
|
gptkbp:discoveredBy
|
gptkb:Vann_Bennett
|
|
gptkbp:domain
|
death domain
ankyrin repeat domain
C-terminal regulatory domain
spectrin-binding domain
|
|
gptkbp:encodedBy
|
ANK2 gene
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:foundIn
|
humans
mice
|
|
gptkbp:function
|
scaffolding protein
links integral membrane proteins to the spectrin-actin cytoskeleton
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ankyrin-B
|
|
gptkbp:interactsWith
|
inositol 1,4,5-trisphosphate receptor
Na/Ca exchanger
Na/K ATPase
|
|
gptkbp:locale
|
gptkb:endoplasmic_reticulum
gptkb:plasma_membrane
gptkb:T-tubules
|
|
gptkbp:locatedOnChromosome
|
4q25-q27
|
|
gptkbp:molecularWeight
|
220 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
sudden cardiac death
frameshift
arrhythmogenic cardiomyopathy
sinus node disease
|
|
gptkbp:OMIM
|
106410
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:PDB
|
4RLS
4RLV
4RLW
|
|
gptkbp:phosphorylates
|
Serine 378
Threonine 99
|
|
gptkbp:regulates
|
calcium homeostasis
membrane protein targeting
cardiac excitability
|
|
gptkbp:reviewedBy
|
gptkb:Nature
gptkb:Circulation_Research
|
|
gptkbp:UniProtID
|
gptkb:Q01484
|
|
gptkbp:bfsParent
|
gptkb:ANK2
|
|
gptkbp:bfsLayer
|
7
|