PAX6

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName Oculorhombin
paired box gene 6
PAX-6
aniridia type II protein
gptkbp:associatedWith gptkb:Wilms_tumor
gptkb:WAGR_syndrome
intellectual disability
genitourinary anomalies
gptkbp:biologicalProcess transcription regulation
DNA binding
gptkbp:chromosomeArm gptkb:11p13
gptkbp:conservedIn invertebrates
vertebrates
gptkbp:discoveredBy David J. Price
gptkbp:domain homeodomain
paired domain
proline-serine-threonine-rich region
gptkbp:encodes Paired box protein Pax-6
gptkbp:Entrez_Gene_ID 5080
ENSG00000007372
gptkbp:expressedIn brain
eye
pancreas
gptkbp:firstDescribed 1991
gptkbp:function transcription factor
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:8616
https://www.w3.org/2000/01/rdf-schema#label PAX6
gptkbp:involvedIn eye development
pancreas development
central nervous system development
gptkbp:length 14 exons
gptkbp:locatedOnChromosome 11
gptkbp:mutationAssociatedWith gptkb:aniridia
congenital cataracts
Peter's anomaly
foveal hypoplasia
gptkbp:OMIM 607108
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse gptkb:Pax6
gptkbp:orthologInZebrafish pax6a
pax6b
gptkbp:regulates cell differentiation
organogenesis
Paired box (PAX) family
gptkbp:symbol gptkb:PAX6
gptkbp:UniProtID P26367
gptkbp:bfsParent gptkb:PAX2
gptkb:11p13
gptkbp:bfsLayer 7