SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 123; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation group BEFREE In humans, inactivating mutations in GLUT2 cause Fanconi-Bickel syndrome, which is characterised by hepatomegaly and kidney disease; defects in insulin secretion are rare in adult patients, but GLUT2 mutations cause transient neonatal diabetes. 25421524 2015
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation group BEFREE FBS is caused by mutations in the glucose and galactose transporter gene SLC2A2 (HGNC ID11006) [Santeret al.(1997); Nat Genet 17: 324–326] and is characterized by hepatic glycogen accumulation with hepatomegaly, fasting hypoglycemia, short stature, impaired glucose tolerance, hyperlipidemia, and tubular nephropathy. 21271664 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation group BEFREE The T-allele of SLC2A2_16459CT was associated with a decreased risk of diabetic nephropathy (odds ratio 0.79 [95% CI 0.66-0.96], P = 0.016), whereas the T-allele of KNG_7965CT and the A-allele of ADIPOQ_prom2GA were associated with increased risk of nephropathy (1.17 [1.03-1.32], P = 0.016; 1.46 [1.11-1.93], P = 0.006, respectively). 17065357 2006
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation group BEFREE This system enables testing of putative modulators of GLUT2 translocation, which are potential drugs for conditions of impaired glucose homeostasis and associated nephropathy. 29218530 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE IL12A was amplified as single gene in three tumors and in a subline of the DU145 cell line, SLC2A2 in one tumor. 11074522 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Northern blot analysis of RNA obtained from the tumor showed a high abundance of the low Km glucose transporter GLUT1 but no transcript for the high Km glucose transporter GLUT2. 9251924 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Glut-1 and Glut-4 mRNA levels in IL-1beta mice were similar to mRNA levels in pair-fed mice bearing nonsecreting tumor. mRNA level of Glut-2, the major Glut of the liver, was down-regulated by IL-1beta. 15297440 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE The genes which were selected for their known function and their potential involvement in tumour development included the genes for ribosomal protein L22 (RPL22), butyrylcholinesterase (BCHE), glucose transporter 2 (SLC2A2), transferrin receptor (TFRC), thrombopoietin (THPO) and the phosphatidylinositol-3 kinase catalytic alpha polypeptide (PIK3CA). 10492640 1999
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 GeneticVariation group BEFREE Genetic variant SLC2A2 [corrected] Is associated with risk of cardiovascular disease – assessing the individual and cumulative effect of 46 type 2 diabetes related genetic variants. 23185617 2012
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 GeneticVariation group BEFREE The association between SLC2A2 rs8192675 and high-density lipoproteins suggests the polymorphism may play a role in influencing high-density lipoproteins and thus metabolic risk of cardiovascular disease. 23341889 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.030 GeneticVariation group BEFREE Genome-wide association studies have reported that GLUT2 variants increase the risks of fasting hyperglycaemia, transition to type 2 diabetes, hypercholesterolaemia and cardiovascular diseases. 25421524 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 Biomarker group BEFREE Together, our reverse chromosome painting data and our PCR analysis indicate gene amplification at 3q26 in 40% of all squamous cell lung carcinomas with BCHE and SLC2A2 as possible target genes of the amplification unit in squamous cell lung carcinoma. 9187134 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 Biomarker group BEFREE Recently, we reported amplifications on chromosomal bands 3q26.1-q26.3 with the genes BCHE and SLC2A2 amplified in 40% of squamous cell lung carcinomas. 10853020 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 AlteredExpression group BEFREE Increased adipose cell size, hepatic fat deposition, malondialdehyde (MDA) content and NEFA level, down-regulation of IRS1, IRS2, PI3K, Akt, p-Akt, Glut2 and PGC1ɑ expression concomitant with up-regulation of mTOR, GSK3β, TNF-ɑ, FOXO1, p-mTOR and p-p70S6K expression in the liver tissue, as well as hypertension and left ventricular diastolic dysfunction were observed in HFC-fed minipigs. 30686655 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.020 Biomarker group BEFREE GLUT5- and GLUT2-mediated fructose effects on intestinal electrolyte transporters, hepatic uric acid metabolism, as well as renal and cardiomyocyte function, may play a role in fructose-induced hypertension. 23129794 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE GLUT2 protein expression was significantly reduced in human HCC as compared to normal liver tissue and its expression in HCC was inversely associated to malignancy (p < 0.001). 31407220 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 Biomarker group BEFREE The contribution of GLUT2 to human metabolic diseases previously appeared modest. 19223655 2009
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 Biomarker group BEFREE Presence of wild-type facilitated glucose transporter, Glut2, in mouse embryos has been shown to increase risk for NTDs in hyperglycemic pregnancy. 25776730 2015
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 GeneticVariation group BEFREE We report a patient harbouring a homozygous mutation of SLC2A2 who presented a dramatic exacerbation of metabolic acidosis in the context of a viral infection, owing to both ketosis and major urinary bicarbonate loss. 25165176 2014
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 Biomarker group BEFREE The effect of FFA on sterol regulatory element-binding protein (SREBP)-1c lipogenic pathway, and expression of genes involved in beta-cell functions, including AMPK (AMP-activated protein kinase), UCP-2 (uncoupling protein-2), IRS-2 (insulin receptor substrate-2), PDX-1 (pancreatic duodenal homeobox-1), GLUT-2 (glucose transporter-2) and B cell lymphoma/leukaemia-2 (Bcl-2) were investigated. 19758361 2010
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
0.010 Biomarker group BEFREE Elevated levels of glucose and/or its metabolites in renal tubular cells may be necessary but not sufficient for the development of both the renal tubulopathy and diabetic-like glomerular disease in GLUT2 deficiency. 16288895 2005
CUI: C1257958
Disease: Glucose Metabolism Disorders
Glucose Metabolism Disorders
0.010 Biomarker group BEFREE These findings clearly indicate that SNAAP has significant potency in radiation-induced glucose metabolism disorder through modulating the JNK pathway in the liver as well as the PDX1/GLUT2 in the pancreas. 31132438 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 AlteredExpression group BEFREE GLUT2 protein expression was significantly reduced in human HCC as compared to normal liver tissue and its expression in HCC was inversely associated to malignancy (p < 0.001). 31407220 2019
CUI: C0349588
Disease: Short stature
Short stature
0.300 Biomarker phenotype GENOMICS_ENGLAND Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. 22060631 2012
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.300 Biomarker phenotype GENOMICS_ENGLAND Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. 22060631 2012