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