VCL - Vinculin - human protein (Medical)
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VCL »  Vinculin
Protein also known as:  Metavinculin (MV).
Gene name:  VCL
Family name: Vinculin/alpha-catenin
Entry whose protein(s) existence is based on evidence at protein level
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Displayed isoform: Iso 2     



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Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.  
  • UniProtKB
Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by mutations affecting the gene represented in this entry.  
  • UniProtKB
According to Orphanet, this protein is involved in the following diseases:
Familial isolated dilated cardiomyopathy  154  
Familial isolated hypertrophic cardiomyopathy  155  


Cardiomyopathy  definition   [KW-0122]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]

Further external links

Organism-specific databases
CTD: 7414
GeneReviews: VCL
MalaCards: VCL
MIM: 611407
MIM: 613255
PharmGKB: PA37288
Polymorphism and mutation databases
BioMuta: VCL
DMDM: 21903479
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.