Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:alveolar_rhabdomyosarcoma
Waardenburg syndrome type 1 Waardenburg syndrome type 3 |
| gptkbp:discoveredBy |
gptkb:Peter_Gruss
|
| gptkbp:encodes |
Paired box protein Pax-3
|
| gptkbp:Entrez_Gene_ID |
5077
|
| gptkbp:expressedIn |
gptkb:neural_crest_cells
muscle precursor cells |
| gptkbp:fullName |
Paired box gene 3
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
HGNC:8615
|
| https://www.w3.org/2000/01/rdf-schema#label |
PAX3
|
| gptkbp:involvedIn |
embryonic development
myogenesis neural crest development |
| gptkbp:locatedOnChromosome |
chromosome 2
2q36.1 |
| gptkbp:mutationAssociatedWith |
hearing loss
pigmentation abnormalities |
| gptkbp:OMIM |
606597
|
| gptkbp:orthologInMouse |
Pax3
|
| gptkbp:proteinFamily |
homeodomain
paired box domain PAX gene family |
| gptkbp:regulates |
gptkb:c-Met
gptkb:MITF Myf5 |
| gptkbp:UniProtID |
P23760
|
| gptkbp:bfsParent |
gptkb:PAX3-FOXO1_fusion
|
| gptkbp:bfsLayer |
6
|