Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
TCF14
HNF4-alpha |
| gptkbp:associatedWith |
gptkb:diabetes_mellitus
gptkb:MODY1 |
| gptkbp:binds |
DNA response elements
|
| gptkbp:clinicalTrialPhase |
genetic testing for MODY1
|
| gptkbp:discoveredBy |
gptkb:Francis_Collins
|
| gptkbp:encodes |
Hepatocyte nuclear factor 4-alpha protein
|
| gptkbp:Entrez_Gene_ID |
3172
ENSG00000101076 |
| gptkbp:expressedIn |
gptkb:kidney
liver intestine |
| gptkbp:fullName |
hepatocyte nuclear factor 4 alpha
|
| gptkbp:function |
transcription factor
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:5024
|
| https://www.w3.org/2000/01/rdf-schema#label |
HNF4A
|
| gptkbp:interactsWith |
coactivators
corepressors |
| gptkbp:locatedOnChromosome |
20q13.12
|
| gptkbp:mutationAssociatedWith |
gptkb:Maturity-onset_diabetes_of_the_young
nonsense missense frameshift splice site |
| gptkbp:OMIM |
600281
|
| gptkbp:orthologInMouse |
Hnf4a
|
| gptkbp:proteinFamily |
nuclear receptor
|
| gptkbp:regulates |
fatty acid oxidation
insulin secretion drug metabolism gluconeogenesis glucose transporter genes epithelial cell differentiation liver development albumin gene apolipoprotein genes pancreatic beta cell function genes involved in glucose metabolism bile acid metabolism genes involved in lipid metabolism intestinal gene expression renal gene expression |
| gptkbp:transcriptional_activity |
activator
|
| gptkbp:UniProtID |
P41235
|
| gptkbp:bfsParent |
gptkb:ENSG00000120738
|
| gptkbp:bfsLayer |
7
|