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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ALSFTD2
gptkb:FLJ25777
gptkb:MGC23919
gptkb:MGC52271
gptkb:PPP1R63
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_ALS
gptkb:sporadic_ALS
amyotrophic lateral sclerosis
neurodegeneration
frontotemporal dementia
RNA foci
TDP-43 pathology
dipeptide repeat proteins
familial FTD
sporadic FTD
|
|
gptkbp:discoveredIn
|
2011
|
|
gptkbp:Entrez_Gene_ID
|
203228
ENSG00000147894
|
|
gptkbp:expressedIn
|
gptkb:spinal_cord
brain
|
|
gptkbp:fullName
|
gptkb:Chromosome_9_open_reading_frame_72
|
|
gptkbp:function
|
autophagy regulation
regulation of endosomal trafficking
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:28245
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
C9orf72 (human)
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
11 exons
481 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:9p21.2
gptkb:chromosome_9
|
|
gptkbp:mutationAssociatedWith
|
hexanucleotide repeat expansion
|
|
gptkbp:OMIM
|
614260
|
|
gptkbp:orthologInMouse
|
gptkb:C9orf72_(mouse)
|
|
gptkbp:pathway
|
immune response
autophagy
endosomal transport
|
|
gptkbp:product
|
gptkb:C9orf72_protein
|
|
gptkbp:proteinFamily
|
DENN domain
DENN domain-containing proteins
longin domain
|
|
gptkbp:repeatExpansionMotif
|
GGGGCC
|
|
gptkbp:subcellularLocation
|
gptkb:lysosome
gptkb:endosome
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:symbol
|
gptkb:C9orf72
|
|
gptkbp:UniProtID
|
Q96LT7
|
|
gptkbp:bfsParent
|
gptkb:C9orf72_(mouse)
|
|
gptkbp:bfsLayer
|
6
|