|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
true
|
|
gptkbp:associatedWith
|
congenital anomalies of the kidney and urinary tract
papillorenal syndrome
renal-coloboma syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Peter_Gruss
|
|
gptkbp:encodes
|
Paired box protein Pax-2
|
|
gptkbp:Entrez_Gene_ID
|
5076
ENSG00000075891
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
optic nerve
|
|
gptkbp:firstDescribed
|
1992
|
|
gptkbp:fullName
|
paired box gene 2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:PAX5
gptkb:PAX8
gptkb:PAX6
|
|
gptkbp:HGNC_ID
|
HGNC:8615
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PAX2
|
|
gptkbp:involvedIn
|
eye development
kidney development
urogenital tract development
|
|
gptkbp:locatedInSpecies
|
gptkb:Homo_sapiens
|
|
gptkbp:locatedOnChromosome
|
10q24
|
|
gptkbp:mutationAssociatedWith
|
renal hypoplasia
optic nerve coloboma
|
|
gptkbp:OMIM
|
167409
|
|
gptkbp:orthologIn
|
Pax2 (mouse)
pax2a (zebrafish)
pax2b (zebrafish)
|
|
gptkbp:PDB
|
6PAX
|
|
gptkbp:regulates
|
cell differentiation
cell proliferation
true
|
|
gptkbp:symbol
|
gptkb:PAX2
|
|
gptkbp:UniProtID
|
Q02962
|
|
gptkbp:bfsParent
|
gptkb:chromosome_10
|
|
gptkbp:bfsLayer
|
6
|