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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCKR
glucokinase regulator
Chromosome 2 · 2p23.3
NCBI Gene: 2646Ensembl: ENSG00000084734.9HGNC: HGNC:4196UniProt: A0A0C4DFN2
232PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinase inhibitor activityfructose-6-phosphate bindingglucose sensor activitygouttype 2 diabetes mellitusdiabetes mellitusAbnormality of the skeletal system
✦AI Summary

GCKR encodes glucokinase regulator protein (GKRP), a key modulator of hepatic glucose metabolism and a pleiotropic locus in metabolic disease. Functionally, GCKR regulates glucokinase by forming an inactive cytoplasmic complex with this enzyme and promoting its nuclear localization, thereby sequestering a reserve pool of glucokinase that can be rapidly mobilized postprandially 12. This inhibitory interaction is dynamically regulated by fructose metabolites: fructose 6-phosphate increases GCKR-glucokinase affinity, while fructose 1-phosphate strongly decreases it 12. Recent mechanistic studies reveal that GCKR variants influence hepatic reductive stress (NADH/NAD+ ratio), which activates the transcription factor ChR2 and orchestrates metabolic traits including hepatic steatosis, circulating FGF21, and acylglycerol species 3. Clinically, GCKR variants are among the most strongly associated genetic factors with non-alcoholic fatty liver disease (NAFLD) across diverse populations 45. The GCKR-rs1260326 T allele elevates NASH severity specifically in diabetic individuals but provides protection from fibrosis in non-diabetic states, highlighting metabolic state-dependent genotype-phenotype relationships 6. Individuals carrying high-risk GCKR variants show 2.5–6-fold increased risk of NAFLD progression, cirrhosis, and hepatocellular carcinoma 47.

Sources cited
1
GCKR regulates glucokinase by forming an inactive complex and its affinity is modulated by fructose metabolites
PMID: 23621087
2
GCKR inhibits glucokinase activity through complex formation; fructose 6-phosphate increases and fructose 1-phosphate decreases GCKR-GCK affinity
PMID: 23733961
3
GCKR influences hepatic reductive stress which activates ChREBP and mediates multiple metabolic traits including hepatic fat and circulating metabolites
PMID: 38101397
4
GCKR variants are validated NAFLD-associated loci; individuals in top genetic risk percentiles show 2.5–6-fold increased risk of NAFLD, cirrhosis, and HCC
PMID: 37709864
5
GCKR/C2ORF16 on chromosome 2 shows genome-wide significance in GWAS of histologically-characterized NAFLD
PMID: 32298765
6
GCKR-rs1260326-T allele elevates NASH disease severity under diabetic conditions but protects from fibrosis in non-diabetic states through mitochondrial dysfunction
PMID: 36240780
7
GCKR genetic polymorphisms are independent risk factors for NAFLD-associated hepatocellular carcinoma
PMID: 34453963
8
GCKR rs780094 polymorphism is moderately associated with gestational diabetes mellitus risk
PMID: 30074065
Disease Associationsⓘ20
goutOpen Targets
0.48Moderate
type 2 diabetes mellitusOpen Targets
0.48Moderate
diabetes mellitusOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
HypercholesterolemiaOpen Targets
0.43Moderate
metabolic diseaseOpen Targets
0.43Moderate
cholelithiasisOpen Targets
0.42Moderate
familial hyperlipidemiaOpen Targets
0.41Moderate
gestational diabetesOpen Targets
0.40Moderate
hyperlipidemiaOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.39Weak
uterine fibroidOpen Targets
0.39Weak
familial lipoprotein lipase deficiencyOpen Targets
0.37Weak
Intrahepatic cholestasis of pregnancyOpen Targets
0.37Weak
gallstonesOpen Targets
0.37Weak
bipolar disorderOpen Targets
0.36Weak
Crohn's diseaseOpen Targets
0.35Weak
nephrolithiasisOpen Targets
0.35Weak
liver diseaseOpen Targets
0.35Weak
chronic kidney diseaseOpen Targets
0.34Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
G6PC2Protein interaction99%AMDHD2Protein interaction87%MTNR1BProtein interaction87%KHKProtein interaction85%DGKBProtein interaction75%TM6SF2Protein interaction74%
Tissue Expression6 tissues
Liver
100%
Ovary
4%
Brain
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GCKRG6PC2AMDHD2MTNR1BKHKDGKBTM6SF2
PROTEIN STRUCTURE
Preparing viewer…
PDB4BB9 · 1.47 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.70–1.14]
RankingsWhere GCKR stands among ~20K protein-coding genes
  • #1,725of 20,598
    Most Researched232 · top 10%
  • #11,791of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedGCKR
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Epidemiology and risk-stratification of NAFLD-associated HCC.
PMID: 34453963
J Hepatol · 2021
1.00
2
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
PMID: 37709864
Nat Genet · 2023
0.90
3
Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.
PMID: 24830394
PLoS Genet · 2014
0.80
4
En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH.
PMID: 36240780
Cell · 2022
0.70
5
GCKR and ADIPOQ gene polymorphisms in women with gestational diabetes mellitus.
PMID: 37524927
Acta Diabetol · 2023
0.68