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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CMT1D
gptkb:Krox-20
EGR-2
|
|
gptkbp:associatedWith
|
gptkb:Dejerine–Sottas_disease
Charcot-Marie-Tooth disease type 1D
Congenital hypomyelinating neuropathy
|
|
gptkbp:discoveredBy
|
James L. Milbrandt
|
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gptkbp:encodes
|
gptkb:EGR2_protein
|
|
gptkbp:Entrez_Gene_ID
|
1959
ENSG00000118308
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|
gptkbp:expressedIn
|
Schwann cells
|
|
gptkbp:firstDescribed
|
1987
|
|
gptkbp:fullName
|
Early Growth Response 2
|
|
gptkbp:function
|
transcription factor
regulation of myelination
peripheral nerve development
|
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gptkbp:geneType
|
protein-coding
|
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gptkbp:HGNC_ID
|
gptkb:EGR2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EGR2 gene
|
|
gptkbp:locatedOnChromosome
|
10
10q21.3
|
|
gptkbp:mutationAssociatedWith
|
demyelinating neuropathy
peripheral nerve dysfunction
|
|
gptkbp:OMIM
|
129010
|
|
gptkbp:orthologInMouse
|
gptkb:Egr2
|
|
gptkbp:proteinFamily
|
gptkb:EGR_family
|
|
gptkbp:regulates
|
cell differentiation
cell proliferation
myelin basic protein (MBP)
myelin protein zero (MPZ)
peripheral myelin protein 22 (PMP22)
myelin gene expression
|
|
gptkbp:transcriptionFactorClass
|
zinc finger
|
|
gptkbp:UniProtID
|
P11161
|
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gptkbp:bfsParent
|
gptkb:Charcot-Marie-Tooth_disease_type_1
gptkb:EGR2_protein
gptkb:Krox-20
gptkb:NGFI-C
gptkb:early_growth_response_2
gptkb:Dejerine–Sottas_disease
|
|
gptkbp:bfsLayer
|
8
|