Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
JM2
scurfin |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
autoimmune diseases
IPEX syndrome |
| gptkbp:discoveredIn |
2001
|
| gptkbp:encodes |
FOXP3 protein
|
| gptkbp:Entrez_Gene_ID |
50943
|
| gptkbp:expressedIn |
gptkb:regulatory_T_cells
|
| gptkbp:fullName |
Forkhead box P3
|
| gptkbp:function |
transcription factor
regulation of immune response development of regulatory T cells |
| gptkbp:HGNC_ID |
HGNC:6106
|
| https://www.w3.org/2000/01/rdf-schema#label |
FOXP3
|
| gptkbp:length |
11 exons
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
gptkb:Xp11.23 |
| gptkbp:mutationAssociatedWith |
immune dysregulation
|
| gptkbp:OMIM |
300292
|
| gptkbp:orthologInMouse |
Foxp3
|
| gptkbp:proteinFamily |
forkhead/winged-helix family
|
| gptkbp:regulates |
immune tolerance
T cell function |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9BZS1
|
| gptkbp:bfsParent |
gptkb:Forkhead_box_(FOX)_protein_family
gptkb:regulatory_T_cells gptkb:Treg_cells |
| gptkbp:bfsLayer |
7
|