SOAT2, sterol O-acyltransferase 2, 8435

N. diseases: 25; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.300 Biomarker disease CTD_human Celiac disease biomarkers identified by transcriptome analysis of small intestinal biopsies. 30097691 2018
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
0.200 Biomarker disease RGD Acyl-coenzyme A:cholesterol acyltransferase-2 (ACAT-2) is responsible for elevated intestinal ACAT activity in diabetic rats. 15242859 2004
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.200 Biomarker disease RGD The CRF animals showed a significant reduction in creatinine clearance, marked hypertriglyceridemia, modest hypercholesterolemia, and significant upregulation of hepatic tissue ACAT-2 protein and mRNA abundance. 12217884 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.200 Biomarker group RGD Up-regulation of acyl-coenzyme A:cholesterol acyltransferase (ACAT) in nephrotic syndrome. 11967026 2002
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease RGD Upregulation of acyl-CoA: cholesterol acyltransferase in chronic renal failure. 12217884 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE Depletion of the cholesterol esterifying enzyme acyl-Coenzyme A: cholesterol acyltransferase 2 (ACAT2, encoded by Soat2) protects mice from atherosclerosis, diet-induced hypercholesterolemia, and hepatic steatosis when fed high-cholesterol diet. 30630736 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE Depletion of the cholesterol esterifying enzyme acyl-Coenzyme A: cholesterol acyltransferase 2 (ACAT2, encoded by Soat2) protects mice from atherosclerosis, diet-induced hypercholesterolemia, and hepatic steatosis when fed high-cholesterol diet. 30630736 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.020 AlteredExpression disease BEFREE The ACAT-2 and CYP7A1 mRNA expression were significantly decreased in HC diet supplemented with STG, while the mRNA levels of LDLR were markedly increased. 30937311 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 GeneticVariation disease BEFREE Rs28765985 of ACAT-2 gene are associated with CAD in Uygur subjects. 30696703 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.020 Biomarker disease BEFREE Here we aimed to investigate whether depletion of Soat2 per se can reduce hepatic steatosis, also in the presence of very low levels of cholesterol in the diet, and the underlying mechanisms. 30630736 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
0.020 Biomarker disease BEFREE Together, these data imply that SOAT2 inhibition, if applied concurrently with enzyme replacement therapy for LAL deficiency, may blunt the re-esterification of newly released unesterified cholesterol thereby improving clinical outcomes. 29246491 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 Biomarker group BEFREE These new analogues are the most potent and selective SOAT2 inhibitors to be used as synthetic compounds and attractive seed compounds for the development of drug for dyslipidemia, including atherosclerotic disease and steatosis. 29323466 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.020 Biomarker disease BEFREE These new analogues are the most potent and selective SOAT2 inhibitors to be used as synthetic compounds and attractive seed compounds for the development of drug for dyslipidemia, including atherosclerotic disease and steatosis. 29323466 2018
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
0.020 Biomarker disease BEFREE These studies illustrate how the severity of disease in a mouse model for CESD can be substantially ameliorated by elimination of SOAT2 function. 25450374 2014
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE Acyl-CoA: cholesterol acyltransferase-2 (ACAT2), an intracellular cholesterol esterification enzyme found only in the intestine and liver, has been demonstrated to be associated with hypercholesterolemia and atherosclerosis in mice. 16195894 2005
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE Acyl-CoA: cholesterol acyltransferase-2 (ACAT2), an intracellular cholesterol esterification enzyme found only in the intestine and liver, has been demonstrated to be associated with hypercholesterolemia and atherosclerosis in mice. 16195894 2005
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.020 Biomarker disease BEFREE Acyl-CoA: cholesterol acyltransferase-2 (ACAT2), an intracellular cholesterol esterification enzyme found only in the intestine and liver, has been demonstrated to be associated with hypercholesterolemia and atherosclerosis in mice. 16195894 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 GeneticVariation disease BEFREE To explore the possible impact of ACAT2 gene variants on CAD susceptibility and plasma lipid levels, three polymorphisms, 41A>G (Glu>Gly), 734C>T (Thr>Ile), and IVS4-57_58 ins48 bp (D/I), were genotyped in 809 CAD patients (CAD+) and 1,304 controls (CAD-) from three distinct Singaporean ethnic groups (1,228 Chinese, 367 Malays and 518 Indians). 16195894 2005
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.020 Biomarker group BEFREE To investigate the relationship between ACAT-2 and dyslipidemia, we determined the structure of the human ACAT-2 gene and then studied the relationship between mutations of the ACAT-2 gene and dyslipidemia. 11325614 2001
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.010 Biomarker disease BEFREE Here we aimed to investigate whether depletion of Soat2 per se can reduce hepatic steatosis, also in the presence of very low levels of cholesterol in the diet, and the underlying mechanisms. 30630736 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 AlteredExpression group BEFREE CKD also resulted in increased enzymatic activity of HMG-CoA reductase and ACAT2 together with decreased enzyme activity of lipase and LCAT. 31828139 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 AlteredExpression group BEFREE The existence of a new class of potent and selective SOAT2 inhibitors provides an opportunity for exploring if suppression of this enzyme could potentially become an adjunctive therapy for liver disease in NPC1 deficiency. 29878847 2018
CUI: C0240225
Disease: Liver mass
Liver mass
0.010 GeneticVariation phenotype BEFREE In the chow-fed mice, NPC1:SOAT2 double knockouts, compared with their littermates lacking only NPC1, had 20% less liver mass, 28% lower hepatic UC concentrations, and plasma alanine aminotransferase and aspartate aminotransferase activities that were decreased by 48% and 36%, respectively. mRNA expression levels for several markers of inflammation were all significantly lower in the NPC1 mutants lacking SOAT2. 29878847 2018
Acid cholesteryl ester hydrolase deficiency, type 2
0.010 Biomarker disease BEFREE Together, these data imply that SOAT2 inhibition, if applied concurrently with enzyme replacement therapy for LAL deficiency, may blunt the re-esterification of newly released unesterified cholesterol thereby improving clinical outcomes. 29246491 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE In mouse models, previous work has demonstrated that either antisense oligonucleotide (ASO) or small molecule inhibitors of SOAT2 can effectively reduce CVD progression, and even promote regression of established CVD. 26729489 2016