|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
FOR
WOX1
SDR41C1
|
|
gptkbp:associated_syndrome
|
WOREE syndrome
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:cancer
prostate cancer
Epilepsy
osteosarcoma
spinocerebellar ataxia
|
|
gptkbp:discoveredBy
|
2000
|
|
gptkbp:domain
|
gptkb:WW_domain
short-chain dehydrogenase/reductase domain
|
|
gptkbp:Entrez_Gene_ID
|
51741
ENSG00000186153
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
|
|
gptkbp:first_described_in_year
|
2000
|
|
gptkbp:firstDescribed
|
gptkb:Nature_Genetics
Bednarek et al.
|
|
gptkbp:fullName
|
WW domain-containing oxidoreductase
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
12741
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
WWOX
|
|
gptkbp:interactsWith
|
gptkb:p73
ErbB4
AP-2gamma
Dvl-2
|
|
gptkbp:length
|
414
|
|
gptkbp:locatedIn
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:locatedOnChromosome
|
16
16q23.1
|
|
gptkbp:loss_of_function
|
associated with tumorigenesis
|
|
gptkbp:molecularWeight
|
46
|
|
gptkbp:mutationAssociatedWith
|
autosomal recessive spinocerebellar ataxia 12
epileptic encephalopathy, early infantile, 28
|
|
gptkbp:OMIM
|
605131
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Wwox
|
|
gptkbp:product
|
gptkb:WWOX_protein
|
|
gptkbp:regulates
|
apoptosis
cell growth
steroid metabolism
|
|
gptkbp:UniProtID
|
Q9NZC7
|
|
gptkbp:bfsParent
|
gptkb:chromosome_16_(human)
gptkb:chromosome_16
gptkb:chromosome_16q22.1
|
|
gptkbp:bfsLayer
|
7
|