|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
Oculorhombin
paired box gene 6
PAX-6
aniridia type II protein
|
|
gptkbp:associatedWith
|
gptkb:Wilms_tumor
gptkb:intellectual_disability
gptkb:WAGR_syndrome
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
|
gptkb:eye
brain
pancreas
|
|
gptkbp:firstDescribed
|
1991
|
|
gptkbp:function
|
gptkb:transcription_factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:8616
|
|
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:Pax6
gptkb:human_chromosome_11
gptkb:PAX2
gptkb:11p13
gptkb:Pax_gene_family
gptkb:NM_002529
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PAX6
|