Entity Details

Primary name GCK
Entity type gene
Source Source Link

Details

PrimaryID2645
RefseqGeneNG_008847
SymbolGCK
Nameglucokinase
Chromosome7
Location7p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsHXK4_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001678 cellular glucose homeostasis
GO:0004340 glucokinase activity
GO:0005524 ATP binding
GO:0005536 glucose binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0006096 glycolytic process
GO:0006110 regulation of glycolytic process
GO:0008865 fructokinase activity
GO:0019158 mannokinase activity
GO:0032024 positive regulation of insulin secretion
GO:0032869 cellular response to insulin stimulus
GO:0042593 glucose homeostasis
GO:0044320 cellular response to leptin stimulus
GO:0045721 negative regulation of gluconeogenesis
GO:0045725 positive regulation of glycogen biosynthetic process
GO:0050796 regulation of insulin secretion
GO:0051156 glucose 6-phosphate metabolic process
GO:0051594 detection of glucose
GO:0061621 canonical glycolysis

Diseases

Show/Hide Table
Disease IDSourceNameDescription
125851 OMIMMaturity-onset diabetes of the young 2 (MODY2)A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by variants affecting the gene represented in this entry.
606176 OMIMDiabetes mellitus, permanent neonatal, 1 (PNDM1)An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. The disease is caused by variants affecting the gene represented in this entry.
602485 OMIMFamilial hyperinsulinemic hypoglycemia 3 (HHF3)Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. The disease is caused by variants affecting the gene represented in this entry.
125853 OMIMDiabetes mellitus, non-insulin-dependent (NIDDM)A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.