GCKR (glucokinase regulator)

2008-07-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD32451486
PA448073ethanolChemicalClinicalAnnotationassociatedPD32451486

References

Pubmed IDYearTitleCitations
200818582010New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.925
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
203831462010New loci associated with kidney function and chronic kidney disease.337
200818572010Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.262
195035972009Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.228
206575962010Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.199
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
208848462010Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.135
184395482008Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.131
196439132009The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.117

Citation

Dessen P

GCKR (glucokinase regulator)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50240/gckr