Statements (52)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
gptkbp:alias |
gptkb:AN2
Oculorhombin paired box gene 6 |
gptkbp:conservedIn |
invertebrates
vertebrates |
gptkbp:discoveredBy |
gptkb:Peter_Gruss
|
gptkbp:domain |
homeodomain
PST-rich transactivation domain paired domain |
gptkbp:encodes |
Paired box protein Pax-6
|
gptkbp:expressedIn |
brain
eye pancreas |
gptkbp:foundIn |
gptkb:Mus_musculus
gptkb:Homo_sapiens gptkb:Drosophila_melanogaster |
gptkbp:function |
transcription factor
regulation of central nervous system development regulation of eye development |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:8616
|
https://www.w3.org/2000/01/rdf-schema#label |
Pax6
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_2_(mouse)
11p13 (human) |
gptkbp:mutationAssociatedWith |
gptkb:aniridia
congenital eye malformations Peter's anomaly |
gptkbp:OMIM |
607108
|
gptkbp:orthologIn |
eyeless (Drosophila)
|
gptkbp:regulates |
cell fate determination
neurogenesis lens development pituitary development cortical development anterior neural plate patterning crystallin gene expression diencephalon development forebrain patterning olfactory placode development olfactory system development pancreatic islet cell development progenitor cell proliferation retina development spinal cord development |
gptkbp:requires |
neural development
eye morphogenesis |
gptkbp:symbol |
gptkb:PAX6
|
gptkbp:UniProtID |
P26367
|
gptkbp:bfsParent |
gptkb:chromosome_7_(mouse)
|
gptkbp:bfsLayer |
7
|