GCK Chromosome 7
Glucokinase
Upload your DNA to see your personal genotypes for variants in GCK.
What This Gene Does
This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Hexokinase family
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000106633
Associated Conditions (25)
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young
Permanent neonatal diabetes mellitus
Transient Neonatal Diabetes
Recessive
Hyperinsulinism due to glucokinase deficiency
Permanent neonatal diabetes mellitus 1
Type 2 diabetes mellitus
GCK-related disorder
Monogenic diabetes
Inborn genetic diseases
Diabetes mellitus
Neonatal diabetes mellitus
Microcephaly
normal intelligence and immunodeficiency
Thyroid cancer
nonmedullary
1
Familial hyperinsulinism
Gestational diabetes
+5 more conditions
Key Variants
RS1010302320
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
Health Risk
RS1064796993
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
Health Risk
RS1131691598
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS1170194230
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
Health Risk
RS1208845035
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
Health Risk
RS1240035630
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS1311596702
Conflicting classifications of pathogenicity
Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes, Recessive
Health Risk
RS1329261791
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS1372204515
Conflicting classifications of pathogenicity
Health Risk
RS139139350
Conflicting classifications of pathogenicity
Transient Neonatal Diabetes, Recessive, Maturity-onset diabetes of the young type 2
Health Risk
RS140894490
Conflicting classifications of pathogenicity
Transient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency
Health Risk
RS1415041911
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 2, Monogenic diabetes
Health Risk
All Variants (571)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2484514005 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2484514960 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484515022 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2484522134 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2484522183 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2484522455 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484522580 | Health Risk | Pathogenic | — |
| RS2484522855 | Health Risk | Pathogenic | — |
| RS2484522876 | Health Risk | Pathogenic | — |
| RS2484523041 | Health Risk | Pathogenic | — |
| RS2484523083 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484523726 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484523742 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484523834 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484524110 | Health Risk | Pathogenic | — |
| RS2484524286 | Health Risk | Pathogenic | Monogenic diabetes, GCK-related disorder, Monogenic diabetes |
| RS2484524391 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS2484524472 | Health Risk | Pathogenic | — |
| RS2484524511 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484529224 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484529250 | Health Risk | Pathogenic | — |
| RS2484529339 | Health Risk | Pathogenic | — |
| RS2484529445 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2484529492 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2484529561 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2484534778 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2484535524 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2 |
| RS2484535560 | Health Risk | Pathogenic | GCK-related disorder, Monogenic diabetes, GCK-related disorder |
| RS2484535683 | Health Risk | Pathogenic | Hyperinsulinism due to glucokinase deficiency, Hyperinsulinism due to glucokinase deficiency |
| RS2484535746 | Health Risk | Pathogenic | — |
| RS2484535997 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency |
| RS2484540549 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2484540589 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2484628372 | Health Risk | Pathogenic | GCK-related disorder, Monogenic diabetes, Maturity-onset diabetes of the young type 2 |
| RS556436603 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Monogenic diabetes, Monogenic diabetes |
| RS556581174 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 2, Monogenic diabetes |
| RS587780344 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Monogenic diabetes |
| RS587780345 | Health Risk | Pathogenic | Gestational diabetes, Type 2 diabetes mellitus, Permanent neonatal diabetes mellitus |
| RS587780347 | Health Risk | Pathogenic | Gestational diabetes, Gestational diabetes |
| RS746913146 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS747783371 | Health Risk | Pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS751505614 | Health Risk | Pathogenic | — |
| RS757888672 | Health Risk | Pathogenic | — |
| RS758737171 | Health Risk | Pathogenic | Inborn genetic diseases, Permanent neonatal diabetes mellitus, Inborn genetic diseases |
| RS759072800 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS762263694 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS765007563 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS769268803 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus |
| RS780612692 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2 |
| RS780716926 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 2, Monogenic diabetes, Maturity-onset diabetes of the young type 2 |