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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
merlin
bilateral acoustic neuroma gene
schwannomin
|
|
gptkbp:associatedWith
|
glioma
vestibular schwannoma
spinal tumors
ependymoma
meningioma
juvenile cataracts
Neurofibromatosis type II
cutaneous schwannomas
|
|
gptkbp:biologicalProcess
|
tumor suppressor
regulation of cell proliferation
regulation of cytoskeleton
regulation of cell adhesion
|
|
gptkbp:discoveredBy
|
Dr. Gareth R. Evans
|
|
gptkbp:discoveredIn
|
1993
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|
gptkbp:encodes
|
merlin protein
|
|
gptkbp:Entrez_Gene_ID
|
4771
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
gptkb:meninges
Schwann cells
lens of the eye
|
|
gptkbp:fullName
|
Neurofibromin 2 gene
|
|
gptkbp:gene
|
gptkb:NF2
|
|
gptkbp:geneType
|
protein-coding
|
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gptkbp:hasPseudogene
|
yes
|
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gptkbp:HGNC_ID
|
HGNC:7773
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NF2 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:locatedOnChromosome
|
chromosome 22
22q12.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:schwannoma
missense mutation
nonsense mutation
frameshift mutation
splice site mutation
ependymoma
meningioma
tumor formation
|
|
gptkbp:OMIM
|
607379
|
|
gptkbp:orthologInMouse
|
Nf2
|
|
gptkbp:orthologInZebrafish
|
nf2a
nf2b
|
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gptkbp:pathway
|
gptkb:Hippo_signaling_pathway
cell cycle regulation
contact inhibition
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P35240
|
|
gptkbp:bfsParent
|
gptkb:Neurofibromatosis
gptkb:neurofibromatosis_type_II
gptkb:Neurofibromatosis_type_2
gptkb:neurofibromatosis_type_2
|
|
gptkbp:bfsLayer
|
7
|