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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:membrane_associated_guanylate_kinase,_WW_and_PDZ_domain_containing_2
|
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gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
nephrotic syndrome
|
|
gptkbp:domain
|
gptkb:WW_domain
PDZ domain
guanylate kinase-like domain
|
|
gptkbp:encodes
|
gptkb:MAGI2_protein
|
|
gptkbp:Entrez_Gene_ID
|
23352
ENSG00000106077
|
|
gptkbp:expressedIn
|
gptkb:kidney
gptkb:testis
brain
|
|
gptkbp:firstDescribed
|
2001
|
|
gptkbp:function
|
scaffolding protein
|
|
gptkbp:HGNC_ID
|
HGNC:16808
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MAGI2
|
|
gptkbp:interactsWith
|
gptkb:nephrin
gptkb:PTEN
gptkb:beta-catenin
|
|
gptkbp:involvedIn
|
cell signaling
synaptic function
|
|
gptkbp:length
|
1461 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q21.11
|
|
gptkbp:molecularWeight
|
164 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:steroid-resistant_nephrotic_syndrome
|
|
gptkbp:OMIM
|
606382
|
|
gptkbp:orthologInMouse
|
gptkb:Magi2
|
|
gptkbp:regulates
|
gptkb:synaptic_plasticity
PTEN stability
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
postsynaptic density
|
|
gptkbp:UniProtID
|
Q86UL8
|
|
gptkbp:bfsParent
|
gptkb:PTEN
|
|
gptkbp:bfsLayer
|
5
|