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gptkbp:instanceOf
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gptkb:protein
|
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gptkbp:alternativeName
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gptkb:PHOX2B_protein
Homeobox protein PHOX2B
Paired-like homeobox 2B
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gptkbp:associatedWith
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gptkb:neuroblastoma
gptkb:congenital_central_hypoventilation_syndrome
gptkb:Hirschsprung_disease
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gptkbp:domain
|
homeobox domain
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gptkbp:encodedBy
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PHOX2B gene
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gptkbp:Entrez_Gene_ID
|
8929
ENSG00000109132
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gptkbp:expressedIn
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gptkb:nervous_system
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gptkbp:function
|
gptkb:transcription_factor
regulation of autonomic nervous system development
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gptkbp:gene
|
gptkb:PHOX2B
|
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gptkbp:HGNC_ID
|
9146
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gptkbp:locatedOnChromosome
|
gptkb:4p13
|
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gptkbp:molecularWeight
|
33.5 kDa
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gptkbp:mutationAssociatedWith
|
autonomic dysfunction
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gptkbp:OMIM
|
603851
|
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gptkbp:organism
|
gptkb:Homo_sapiens
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gptkbp:orthologInMouse
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gptkb:Phox2b
|
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gptkbp:orthologInZebrafish
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gptkb:phox2bb
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gptkbp:postTranslationalModification
|
phosphorylation
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gptkbp:regulates
|
noradrenergic neuron development
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gptkbp:sequence
|
314 amino acids
|
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gptkbp:subcellularLocation
|
gptkb:nucleus
|
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gptkbp:transcription_regulation
|
activator
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gptkbp:UniProtID
|
Q99453
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gptkbp:bfsParent
|
gptkb:PHOX2B
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gptkbp:bfsLayer
|
7
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|
http://www.w3.org/2000/01/rdf-schema#label
|
PHOX2B HUMAN
|