SCP2, sterol carrier protein 2, 6342

N. diseases: 50; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0751448
Disease: Polyneuropathy, Familial
Polyneuropathy, Familial 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0751449
Disease: Acquired Polyneuropathy
Acquired Polyneuropathy 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.300 Biomarker disease CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C3150990
Disease: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY 		0.700 GeneticVariation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease BEFREE The triple negative human breast cancer cell lines MDA-MB231 and its sub-progenies SCP2 and SCP25, SUM159PT, SUM149PT, SUM229PE and SUM1315MO2 were treated with 5 ng/ml TGFβ and the protein expression levels were measured by Western blot. 22995475 2012
CUI: C0013421
Disease: Dystonia
Dystonia 		0.310 GeneticVariation phenotype BEFREE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE Studies in vitro have suggested that both sterol carrier protein-2/sterol carrier protein-x (<i>Scp-2/Scp-x</i>) and liver fatty acid binding protein [<i>Fabp1</i> (L-FABP)] gene products facilitate hepatic uptake and metabolism of lipotoxic dietary phytol. 28411199 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 AlteredExpression disease BEFREE Primarily in female mice, hepatic cholesterol accumulation induced by SCP-2 overexpression was associated with increased levels of LDL-receptor, HDL-receptor scavenger receptor-B1 (SR-B1) (as well as PDZK1 and/or membrane-associated protein 17 kDa), SCP-2, liver fatty acid binding protein (L-FABP), and 3alpha-hydroxysteroid dehydrogenase, without alteration of other proteins involved in cholesterol uptake (caveolin), esterification (ACAT2), efflux (ATP binding cassette A-1 receptor, ABCG5/8, and apolipoprotein A1), or oxidation/transport of bile salts (cholesterol 7alpha-hydroxylase, sterol 27alpha-hydroxylase, Na(+)/taurocholate cotransporter, Oatp1a1, and Oatp1a4). 19289417 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.030 Biomarker disease BEFREE In vitro studies suggest that liver fatty acid binding protein (L-FABP) and sterol carrier protein-2/sterol carrier protein-x (SCP2/SCPx) gene products facilitate uptake and metabolism and detoxification of dietary-derived phytol in mammals. 27940000 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.020 AlteredExpression disease BEFREE Based on the results, the promoting effects of EPA-PC on NAFLD may be partly associated with the suppression of cholesterol synthesis via HMGR inhibition and the enhancement of fecal cholesterol excretion through increased SCP2 transcription. 28012135 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.020 Biomarker disease BEFREE Although singly ablating Fabp1 or Scp2/Scpx genes may exacerbate the impact of high fat diet (HFD) on whole body phenotype and non-alcoholic fatty liver disease (NAFLD), concomitant upregulation of the non-ablated gene, preference for ad libitum fed HFD, and sex differences complicate interpretation. 29307784 2018
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.020 Biomarker disease BEFREE The SCP2 gene was overexpressed in patients with cholesterol gallstone, indicating that SCP2 may be one of the important causes of cholesterol gallstone. 15730934 2005
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		0.020 AlteredExpression disease BEFREE Moreover, SCP2 was expressed at higher levels in hereditary cholesterol gallstone patients than that of non-hereditary cholesterol gallstone patients. 21310066 2011
CUI: C4023113
Disease: Small vessel vasculitis
Small vessel vasculitis 		0.020 Biomarker disease BEFREE Furthermore, immunization with rSCP2<sub>518-532</sub> accelerated the development of SVV in the rat model. 27863214 2017
CUI: C4023113
Disease: Small vessel vasculitis
Small vessel vasculitis 		0.020 Biomarker disease BEFREE In line with this, CD1d-restricted type II NKT cells that recognize type II collagen peptide have been demonstrated to act as anti-inflammatory cells in diverse inflammation-induction models in mice, whereas pro-inflammatory CD1d-restricted type II NKT cells reactive with sterol carrier protein 2 peptide have been demonstrated to be involved in the development of small vessel vasculitis in rats. 29599785 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE The sterol carrier protein SCP-x/pro-SCP-2 gene has transcriptional activity and regulates the Alzheimer disease gamma-secretase. 17485462 2007
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE SCP2/SCPx deficiency attenuated atherosclerosis in LS mice by >80% and significantly reduced plasma cholesterol and triglyceride levels. 29700117 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE SCP2/SCPx deficiency attenuated atherosclerosis in LS mice by >80% and significantly reduced plasma cholesterol and triglyceride levels. 29700117 2018
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 Biomarker group BEFREE Type II Natural Killer T Cells that Recognize Sterol Carrier Protein 2 Are Implicated in Vascular Inflammation in the Rat Model of Systemic Connective Tissue Diseases. 27863214 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 AlteredExpression disease BEFREE In vivo, SCP2 overexpression and high cholesterol diet could promote tumor growth. 31519191 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 Biomarker disease BEFREE SCP-1 and SCP-2 also increased the activities of glutathione peroxidase (GSH-Px), catalase (CAT) and superoxide dismutase (SOD), as well as decreased the content of malondialdehyde (MDA) in the hyperglycemia mice. 30529353 2019
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.010 Biomarker disease BEFREE Here, we show that the phosphatase SCP1 and its isoforms SCP2/3 dephosphorylate PML at S518, thereby blocking PML ubiquitination and degradation mediated by the prolyl isomerase Pin1 and the ubiquitin ligase KLHL20. 25293974 2014
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma 		0.010 AlteredExpression disease BEFREE Forced expression of SCP2 promoted PA cell lines proliferation in vitro. 31519191 2019
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		0.010 Biomarker disease BEFREE A sterol-carrier protein-2 (SCP-2) knockout mouse model shares a similar clinical phenotype to Refsum's disease, but no mutations in SCP-2 have been described to-date in man. 11948235 2002