INS gene in humans
E481234
The INS gene in humans is the gene that produces insulin, a key hormone that regulates blood glucose levels and is central to the development of diabetes when dysfunctional.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| INS gene | 0 |
Statements (51)
| Predicate | Object |
|---|---|
| instanceOf |
human gene
ⓘ
protein-coding gene ⓘ |
| associatedWithDisease |
hyperinsulinemia
ⓘ
insulinoma ⓘ maturity-onset diabetes of the young ⓘ metabolic syndrome ⓘ neonatal diabetes mellitus ⓘ type 1 diabetes mellitus ⓘ type 2 diabetes mellitus ⓘ |
| associatedWithTrait |
fasting plasma glucose level
ⓘ
insulin secretion ⓘ insulin sensitivity ⓘ |
| biologicalProcess |
carbohydrate metabolism
ⓘ
glucose homeostasis ⓘ lipid metabolism ⓘ protein metabolism ⓘ regulation of blood glucose ⓘ |
| encodes |
insulin
ⓘ
preproinsulin NERFINISHED ⓘ proinsulin ⓘ |
| expressedIn |
islets of Langerhans
NERFINISHED
ⓘ
pancreas ⓘ pancreatic beta cell ⓘ |
| foundInSpecies | Homo sapiens NERFINISHED ⓘ |
| hasEnsemblID | ENSG00000254647 ⓘ |
| hasEntrezGeneID | 3630 ⓘ |
| hasHGNCID | 6081 ⓘ |
| hasPolymorphism | variable number tandem repeat at 5′ region ⓘ |
| hasStrandOrientation | plus strand ⓘ |
| hasUniProtID | P01308 ⓘ |
| locatedInChromosomalBand | 11p15.5 ⓘ |
| locatedOnChromosome | chromosome 11 ⓘ |
| memberOfPathway |
MAPK signaling pathway
NERFINISHED
ⓘ
PI3K-Akt signaling pathway NERFINISHED ⓘ insulin signaling pathway NERFINISHED ⓘ |
| molecularFunction |
growth factor activity
ⓘ
hormone activity ⓘ |
| orthologOf |
mouse Ins2 gene
ⓘ
rat Ins1 gene ⓘ |
| polymorphismAssociatedWith |
birth weight variation
ⓘ
type 1 diabetes risk ⓘ |
| proteinProduct |
C-peptide
NERFINISHED
ⓘ
insulin A chain NERFINISHED ⓘ insulin B chain ⓘ insulin precursor ⓘ |
| regulatedBy |
FOXA2 transcription factor
NERFINISHED
ⓘ
MAFA transcription factor NERFINISHED ⓘ NEUROD1 transcription factor NERFINISHED ⓘ PDX1 transcription factor NERFINISHED ⓘ glucose ⓘ |
| transcriptProduces | INS mRNA ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.