|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ARD
PDX2
RIEG
RIEG1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
congenital heart defects
Axenfeld-Rieger syndrome
iridogoniodysgenesis syndrome
|
|
gptkbp:discoveredBy
|
multiple researchers
|
|
gptkbp:encodes
|
Paired-like homeodomain transcription factor 2
|
|
gptkbp:Entrez_Gene_ID
|
5308
ENSG00000164093
|
|
gptkbp:expressedIn
|
gptkb:eye
heart
teeth
|
|
gptkbp:fullName
|
paired like homeodomain 2
|
|
gptkbp:function
|
gptkb:transcription_factor
|
|
gptkbp:HGNC_ID
|
9007
|
|
gptkbp:length
|
317 amino acids (isoform A)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
4q25
|
|
gptkbp:mutationAssociatedWith
|
developmental disorders
|
|
gptkbp:OMIM
|
601542
|
|
gptkbp:orthologInMouse
|
Pitx2
|
|
gptkbp:proteinFamily
|
gptkb:homeobox_genes
|
|
gptkbp:regulates
|
cardiac development
tooth development
left-right asymmetry during development
ocular development
|
|
gptkbp:UniProtID
|
Q99697
|
|
gptkbp:bfsParent
|
gptkb:Familial_atrial_fibrillation
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PITX2
|