|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NBPhox
gptkb:PHOX2B_HUMAN
gptkb:PMX2B
|
|
gptkbp:associatedWith
|
gptkb:neuroblastoma
gptkb:congenital_central_hypoventilation_syndrome
gptkb:Hirschsprung_disease
|
|
gptkbp:discoveredBy
|
gptkb:Jean-François_Brunet
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:paired-like_homeobox_2b_protein
|
|
gptkbp:Entrez_Gene_ID
|
8929
ENSG00000109132
|
|
gptkbp:expressedIn
|
embryonic development
peripheral nervous system
autonomic nervous system
brainstem
|
|
gptkbp:function
|
transcription factor
neural development
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0003700
GO:0006355
GO:0007420
GO:0045664
GO:0048699
|
|
gptkbp:hasHomeoboxDomain
|
yes
|
|
gptkbp:hasRefSeqID
|
NM_003924
|
|
gptkbp:hasRefSeqProtein
|
NP_003915
|
|
gptkbp:HGNC_ID
|
9143
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PHOX2B
|
|
gptkbp:length
|
314 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
gptkb:4p13
|
|
gptkbp:mutationAssociatedWith
|
nonsense mutation
frameshift mutation
autonomic nervous system dysfunction
polyalanine expansion
|
|
gptkbp:OMIM
|
603851
|
|
gptkbp:orthologInMouse
|
gptkb:Phox2b
|
|
gptkbp:orthologInZebrafish
|
gptkb:phox2bb
|
|
gptkbp:PDB
|
2L5X
2LK2
|
|
gptkbp:product
|
gptkb:PHOX2B_protein
|
|
gptkbp:regulates
|
gptkb:RET_gene
autonomic neuron differentiation
dopaminergic neuron development
noradrenergic neuron development
|
|
gptkbp:UniProtID
|
Q99453
|
|
gptkbp:bfsParent
|
gptkb:neuroblastoma
|
|
gptkbp:bfsLayer
|
6
|