Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
paired box 8
thyroid-specific transcription factor |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
renal cell carcinoma
thyroid carcinoma congenital hypothyroidism |
| gptkbp:discoveredBy |
D. Mansouri et al.
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
Paired box protein Pax-8
|
| gptkbp:Entrez_Gene_ID |
7849
ENSG00000125618 |
| gptkbp:expressedIn |
gptkb:kidney
thyroid gland Müllerian duct derivatives |
| gptkbp:fullName |
Paired box gene 8
|
| gptkbp:function |
transcription factor
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:8617
|
| https://www.w3.org/2000/01/rdf-schema#label |
PAX8
|
| gptkbp:involvedIn |
thyroid development
urogenital tract development |
| gptkbp:length |
450 amino acids
|
| gptkbp:locatedOnChromosome |
2q13
|
| gptkbp:memberOf |
PAX gene family
|
| gptkbp:molecularWeight |
48 kDa
|
| gptkbp:mutationAssociatedWith |
congenital hypothyroidism
thyroid dysgenesis |
| gptkbp:OMIM |
167415
|
| gptkbp:orthologInMouse |
Pax8
|
| gptkbp:regulates |
thyroglobulin gene
thyroid peroxidase gene sodium/iodide symporter gene |
| gptkbp:symbol |
gptkb:PAX8
|
| gptkbp:UniProtID |
Q06710
|
| gptkbp:bfsParent |
gptkb:cancer
|
| gptkbp:bfsLayer |
4
|