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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
PSD-93
chapsyn-110
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
schizophrenia
intellectual disability
|
|
gptkbp:component
|
gptkb:plasma_membrane
postsynaptic density
|
|
gptkbp:discoveredBy
|
researchers in the 1990s
|
|
gptkbp:encodes
|
Disks large homolog 2 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:DLG2
1740
ENSG00000150672
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
brain
|
|
gptkbp:function
|
protein binding
scaffolding protein
synaptic signaling
scaffold protein binding
|
|
gptkbp:GOProcess
|
regulation of synaptic plasticity
synapse organization
|
|
gptkbp:hasParalog
|
gptkb:DLG1
gptkb:DLG3
gptkb:DLG4
|
|
gptkbp:HGNC_ID
|
2904
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DLG2 gene
|
|
gptkbp:interactsWith
|
gptkb:NMDA_receptor
gptkb:DLG1
gptkb:DLG3
DLG4 (PSD-95)
|
|
gptkbp:length
|
927 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
11q14.1-q14.2
|
|
gptkbp:memberOf
|
membrane-associated guanylate kinase (MAGUK) family
|
|
gptkbp:mutationAssociatedWith
|
neurodevelopmental disorders
|
|
gptkbp:OMIM
|
602078
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Dlg2
|
|
gptkbp:product
|
membrane-associated guanylate kinase
|
|
gptkbp:proteinFamily
|
SH3 domain
PDZ domain
guanylate kinase-like domain
|
|
gptkbp:RefSeq
|
NM_001365
|
|
gptkbp:UniProtID
|
Q15700
|
|
gptkbp:bfsParent
|
gptkb:DISCB
|
|
gptkbp:bfsLayer
|
7
|