|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:Merlin
Schwannomin
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:schwannomatosis
spinal tumors
juvenile cataracts
Neurofibromatosis type II
|
|
gptkbp:associatedWithTumor
|
vestibular schwannoma
ependymoma
meningioma
|
|
gptkbp:biologicalProcess
|
regulates cell growth
links cytoskeleton to membrane
|
|
gptkbp:discoveredBy
|
Gusella JF et al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:Merlin
|
|
gptkbp:Entrez_Gene_ID
|
4771
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
|
|
gptkbp:fullName
|
Neurofibromin 2
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:7773
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NF2
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:actin
gptkb:LATS1
gptkb:CD44
gptkb:YAP1
angiomotin
ezrin
moesin
radixin
|
|
gptkbp:length
|
595 amino acids
|
|
gptkbp:locatedOnChromosome
|
22q12.2
|
|
gptkbp:mouseModel
|
Nf2 knockout mouse
|
|
gptkbp:mutationAssociatedWith
|
germline
somatic
|
|
gptkbp:numberOfExons
|
17
|
|
gptkbp:OMIM
|
607379
|
|
gptkbp:orthologInMouse
|
Nf2
|
|
gptkbp:orthologInZebrafish
|
nf2a
|
|
gptkbp:pathway
|
gptkb:Hippo_signaling_pathway
cytoskeleton organization
cell adhesion
|
|
gptkbp:proteinFamily
|
C-terminal domain
FERM domain
ERM family
alpha-helical domain
|
|
gptkbp:UniProtID
|
P35240
|
|
gptkbp:bfsParent
|
gptkb:neurofibromatosis_type_II
gptkb:Neurofibromatosis_type_2
gptkb:neurofibromatosis_type_2
|
|
gptkbp:bfsLayer
|
7
|