VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
0.010 Biomarker phenotype BEFREE This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS. 28218286 2017
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.300 Biomarker disease CTD_human The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, β-tubulin, α-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients. 21751358 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Moreover, global transcriptional profiling revealed that adhesion and cytoskeletal proteins such as Vinculin, Talin and signaling pathways including focal adhesion kinase (FAK), extracellular martrix (ECM) receptor interaction, and cellular motility were significantly enriched in U87 and T98 glioblastoma cells upon LKB1 knockdown. 31497348 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE The central role of talin and vinculin in cell adhesions suggests that the disintegration of the tissue in atherosclerosis could be partially driven by downregulation of these genes, leading to loosening of cell-ECM interactions and remodeling of the tissue. 27816808 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE The present review discusses the substrates of FXIIIa (activated FXIII) involved in thrombosis and wound healing with a particular focus on: (i) the influence of plasma FXIIIa on the formation of stable fibrin clots able to withstand mechanical and enzymatic breakdown through fibrin-fibrin cross-linking and cross-linking of fibrinolysis inhibitors, in particular α2-antiplasmin; (ii) the role of intracellular FXIIIa in clot retraction through cross-linking of platelet cytoskeleton proteins, including actin, myosin, filamin and vinculin; (iii) the role of intracellular FXIIIa in cross-linking the cytoplasmic tails of monocyte AT1Rs (angiotensin type 1 receptors) and potential effects on the development of atherosclerosis; and (iv) the role of FXIIIa on matrix deposition and tissue repair, including cross-linking of extracellular matrix proteins, such as fibronectin, collagen and von Willebrand factor, and the effects on matrix deposition and cell-matrix interactions. 23075332 2013
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE The central role of talin and vinculin in cell adhesions suggests that the disintegration of the tissue in atherosclerosis could be partially driven by downregulation of these genes, leading to loosening of cell-ECM interactions and remodeling of the tissue. 27816808 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE The present review discusses the substrates of FXIIIa (activated FXIII) involved in thrombosis and wound healing with a particular focus on: (i) the influence of plasma FXIIIa on the formation of stable fibrin clots able to withstand mechanical and enzymatic breakdown through fibrin-fibrin cross-linking and cross-linking of fibrinolysis inhibitors, in particular α2-antiplasmin; (ii) the role of intracellular FXIIIa in clot retraction through cross-linking of platelet cytoskeleton proteins, including actin, myosin, filamin and vinculin; (iii) the role of intracellular FXIIIa in cross-linking the cytoplasmic tails of monocyte AT1Rs (angiotensin type 1 receptors) and potential effects on the development of atherosclerosis; and (iv) the role of FXIIIa on matrix deposition and tissue repair, including cross-linking of extracellular matrix proteins, such as fibronectin, collagen and von Willebrand factor, and the effects on matrix deposition and cell-matrix interactions. 23075332 2013
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 AlteredExpression disease BEFREE Further analysis of 443 specimens from across all stages of prostate cancer progression showed that vinculin expression was highest in castration-resistant prostate cancers, but negative or very low in benign prostatic hyperplasia (p < 0.0001). 21294127 2011
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker disease BEFREE Furthermore, ACTN1 and VCL may play roles in bladder cancer development, partly via the focal adhesion pathway. 28552713 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Furthermore, we find that ERα is a novel regulator of vinculin expression in breast cancer. 28266545 2017
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.020 GeneticVariation disease BEFREE The aggravation of loss of function of SCN5A caused by VCL-D841H under acidosis supports that nocturnal sleep respiratory disorders with acidosis may play a key role in the pathogenesis of SUNDS. 28373245 2017
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.020 Biomarker disease BEFREE This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS. 28218286 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 Biomarker group BEFREE The data identify the kidney as a new organ site for ALK-associated carcinomas and VCL as a novel ALK fusion partner. 21076462 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 AlteredExpression group BEFREE Here we show that in human invasive carcinomas and distant metastases, cytoplasmic EZH2 phosphorylated at T367 is significantly associated with ER- disease and low H3K27me3 levels. p38-mediated EZH2 phosphorylation at T367 promotes EZH2 cytoplasmic localization and potentiates EZH2 binding to vinculin and other cytoskeletal regulators of cell migration and invasion. 30022044 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 Biomarker disease BEFREE Furthermore, ACTN1 and VCL may play roles in bladder cancer development, partly via the focal adhesion pathway. 28552713 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE Together, we demonstrate that reduced NME2 levels lead to transcriptional de-repression of vinculin and regulate lung cancer metastasis. 25249619 2014
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.010 Biomarker phenotype BEFREE This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS. 28218286 2017
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
0.010 AlteredExpression phenotype LHGDN Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 16949038 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE The VCL-encoding protein was involved in cardiomyopathy that associated with hypertension, therefore our results suggest the rs4746172 of VCL may be a novel target for clinical interventions to reduce CVD risk by regulating blood pressure in male Chinese. 26487440 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies. 30844403 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE Metavinculin mutations are pathogenic substrates for both HCM and DCM, further highlighting the allelic nature of these cardiomyopathies. 16236538 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE Mutations in the MVcn insert are linked to various cardiomyopathies. 31483833 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE We have identified the cardiomyopathy-susceptibility gene vinculin (<i>VCL</i>) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. 28373245 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 Biomarker group BEFREE Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. 28218286 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 GeneticVariation group BEFREE We provide the first report of a cardiomyopathy associated mutation in vinculin. 16712796 2006