Gene: VCL

Alternate names for this Gene: CMD1W|CMH15|HEL114|MV|MVCL

Gene Summary: Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.2

Description of this Gene: vinculin

Type of Gene: protein-coding

rs397517244 in VCL gene and Cardiomyopathy, Dilated PMID 16949038 2006 Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.

PMID 17785437 2007 Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy.

rs121917776 in VCL gene and Cardiomyopathy, Dilated, 1w PMID 11815424 2002 Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

PMID 16236538 2006 Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.

rs1874148 in VCL gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1874148 in VCL gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1874148 in VCL gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1874148 in VCL gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1874148 in VCL gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10824058 in VCL gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1874148 in VCL gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.