GCKR (glucokinase regulator)

2008-07-01  

Identity

HGNC
GCKR
LOCATION
2p23.3
LOCUSID
2646
ALIAS
FGQTL5,GKRP

Other Information

Locus ID:

NCBI: 2646
MIM: 600842
HGNC: 4196
Ensembl: ENSG00000084734

Variants:

dbSNP: 2646
ClinVar: 2646
TCGA: ENSG00000084734
COSMIC: GCKR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084734ENST00000264717A0A0C4DFN2
ENSG00000084734ENST00000411584H7C4D3
ENSG00000084734ENST00000417872Q14397
ENSG00000084734ENST00000453813H7C1B4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
381013972024ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits.2
381013972024ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits.2
370810702023Waist circumference mediates the association between rs1260326 in GCKR gene and the odds of lean NAFLD.4
375249272023GCKR and ADIPOQ gene polymorphisms in women with gestational diabetes mellitus.1
376488932023Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISI(Matusda) in the middle-aged T2D individuals.1
378295572023Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.1
370810702023Waist circumference mediates the association between rs1260326 in GCKR gene and the odds of lean NAFLD.4
375249272023GCKR and ADIPOQ gene polymorphisms in women with gestational diabetes mellitus.1
376488932023Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISI(Matusda) in the middle-aged T2D individuals.1
378295572023Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.1
352762412022Association of glucokinase gene and glucokinase regulatory protein gene polymorphisms with gestational diabetes mellitus: A case-control study.6
353280452022Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.10
356579902022Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.2
362432332022GCKR and GCK polymorphisms are associated with increased risk of end-stage kidney disease in Chinese patients with type 2 diabetes: The Hong Kong Diabetes Register (1995-2019).4
352762412022Association of glucokinase gene and glucokinase regulatory protein gene polymorphisms with gestational diabetes mellitus: A case-control study.6

Citation

Dessen P

GCKR (glucokinase regulator)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50240/gckr-(glucokinase-regulator)