Pax6

GPTKB entity

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