GCK (glucokinase)

2007-04-01  

Identity

HGNC
GCK
LOCATION
7p13
LOCUSID
2645
ALIAS
FGQTL3,GK,GLK,HHF3,HK4,HKIV,HXKP,LGLK,MODY2,PNDM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2645
MIM: 138079
HGNC: 4195
Ensembl: ENSG00000106633

Variants:

dbSNP: 2645
ClinVar: 2645
TCGA: ENSG00000106633
COSMIC: GCK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106633ENST00000336642H7BXV0
ENSG00000106633ENST00000345378P35557
ENSG00000106633ENST00000395796P35557
ENSG00000106633ENST00000403799P35557
ENSG00000106633ENST00000403799Q53Y25
ENSG00000106633ENST00000437084C9JQD1
ENSG00000106633ENST00000616242P35557

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Galactose metabolismKEGGko00052
Starch and sucrose metabolismKEGGko00500
Amino sugar and nucleotide sugar metabolismKEGGko00520
Insulin signaling pathwayKEGGko04910
Type II diabetes mellitusKEGGko04930
Maturity onset diabetes of the youngKEGGko04950
Glycolysis / GluconeogenesisKEGGhsa00010
Galactose metabolismKEGGhsa00052
Starch and sucrose metabolismKEGGhsa00500
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Insulin signaling pathwayKEGGhsa04910
Type II diabetes mellitusKEGGhsa04930
Maturity onset diabetes of the youngKEGGhsa04950
Metabolic pathwaysKEGGhsa01100
Neomycin, kanamycin and gentamicin biosynthesisKEGGko00524
Neomycin, kanamycin and gentamicin biosynthesisKEGGhsa00524
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Nucleotide sugar biosynthesis, glucose => UDP-glucoseKEGGhsa_M00549
Nucleotide sugar biosynthesis, glucose => UDP-glucoseKEGGM00549
Insulin secretionKEGGhsa04911
Prolactin signaling pathwayKEGGhsa04917
Prolactin signaling pathwayKEGGko04917
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Hexose transportREACTOMER-HSA-189200
Glucose transportREACTOMER-HSA-70153
Regulation of Glucokinase by Glucokinase Regulatory ProteinREACTOMER-HSA-170822
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745
SLC transporter disordersREACTOMER-HSA-5619102
Defective TRP may confer susceptibility towards thyroid papillary carcinoma (TPC)REACTOMER-HSA-5619107

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
200818582010New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.925
190609072009Variants in MTNR1B influence fasting glucose levels.298
208586832010Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.170
196439132009The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.117
197902562009Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.117
186518362008Glucokinase and molecular aspects of liver glycogen metabolism.105
201858072010Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.101
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
173274362007Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.74

Citation

Dessen P

GCK (glucokinase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46922/gck