|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:AMPH2
gptkb:MGC10442
gptkb:SH3P9
gptkb:BRI
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:centronuclear_myopathy
|
|
gptkbp:chromosomeArm
|
2q14.3
|
|
gptkbp:discoveredBy
|
1997
|
|
gptkbp:encodes
|
gptkb:amphiphysin_II
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000136717
274
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
|
|
gptkbp:fullName
|
gptkb:Bridging_Integrator_1
|
|
gptkbp:function
|
endocytosis
T-tubule biogenesis
membrane dynamics
|
|
gptkbp:HGNC_ID
|
1052
|
|
gptkbp:highest_expression
|
gptkb:skeletal_muscle
brain
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BIN1
|
|
gptkbp:interactsWith
|
gptkb:MYC
gptkb:clathrin
gptkb:dynamin
phosphoinositides
|
|
gptkbp:locatedOnChromosome
|
2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Alzheimer's_disease
gptkb:centronuclear_myopathy
|
|
gptkbp:numberOfExons
|
20
|
|
gptkbp:OMIM
|
601248
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Bin1
|
|
gptkbp:proteinFamily
|
gptkb:amphiphysin_family
gptkb:BAR_domain
SH3 domain
CLAP domain
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
muscle development
membrane curvature
neuronal function
endocytic vesicle formation
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
gptkb:plasma_membrane
T-tubule
|
|
gptkbp:tissue_specificity
|
ubiquitous
|
|
gptkbp:UniProtID
|
gptkb:O00499
|
|
gptkbp:bfsParent
|
gptkb:Alzheimer's_disease_pathway
gptkb:DNM2_gene
|
|
gptkbp:bfsLayer
|
7
|