Statements (34)
| Predicate | Object |
|---|---|
| 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 |
eye
heart teeth |
| gptkbp:fullName |
paired like homeodomain 2
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
9007
|
| https://www.w3.org/2000/01/rdf-schema#label |
PITX2
|
| 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 |
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
|