Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
FKHL14
MFH-1 forkhead-related transcription factor 14 |
| gptkbp:associatedWith |
gptkb:hereditary_lymphedema
cancer metastasis varicose veins lymphedema-distichiasis syndrome |
| gptkbp:discoveredBy |
Kaestner et al.
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
FOXC2 protein
|
| gptkbp:Entrez_Gene_ID |
2303
ENSG00000176692 |
| gptkbp:expressedIn |
vascular endothelium
embryonic mesenchyme |
| gptkbp:fullName |
Forkhead box protein C2
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
3817
|
| https://www.w3.org/2000/01/rdf-schema#label |
FOXC2
|
| gptkbp:length |
501 amino acids
|
| gptkbp:locatedOnChromosome |
16q24.1
|
| gptkbp:memberOf |
forkhead box (FOX) family
|
| gptkbp:molecularWeight |
53 kDa
|
| gptkbp:mutationAssociatedWith |
nonsense
missense loss-of-function frameshift causes lymphedema-distichiasis syndrome |
| gptkbp:OMIM |
602402
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Foxc2
|
| gptkbp:proteinFamily |
forkhead box proteins
|
| gptkbp:regulates |
cell differentiation
cell proliferation angiogenesis cell migration glucose metabolism insulin sensitivity epithelial-mesenchymal transition adipose tissue metabolism lymphangiogenesis extracellular matrix remodeling renal development vascular smooth muscle cell differentiation adipocyte differentiation brown fat development lymphatic valve development podocyte function |
| gptkbp:subcellularLocation |
gptkb:nucleus
|
| gptkbp:UniProtID |
Q99958
|
| gptkbp:bfsParent |
gptkb:Forkhead_box_(FOX)_protein_family
|
| gptkbp:bfsLayer |
7
|