Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:PHOX2B
paired-like homeobox 2b |
| gptkbp:associatedWith |
gptkb:congenital_central_hypoventilation_syndrome
gptkb:Hirschsprung_disease |
| gptkbp:discoveredBy |
gptkb:Jean-François_Brunet
|
| gptkbp:encodes |
Paired-like homeobox 2b protein
|
| gptkbp:Entrez_Gene_ID |
8929
|
| gptkbp:expressedIn |
gptkb:neural_crest
brainstem |
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
9212
|
| https://www.w3.org/2000/01/rdf-schema#label |
Phox2b
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:mutationAssociatedWith |
autonomic dysfunction
|
| gptkbp:OMIM |
603851
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Phox2b
|
| gptkbp:proteinFamily |
homeobox protein
|
| gptkbp:regulates |
autonomic nervous system development
|
| gptkbp:UniProtID |
Q99453
|
| gptkbp:bfsParent |
gptkb:PHOX2B
|
| gptkbp:bfsLayer |
7
|