VCL

Chr 10q22.2

vinculin

Aliases:: VINC
MANE:: ENST00000211998.10

OMIM: 193065 ↗NCBI: 7414 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

VCL · P18206

v62025-08-01

Predicted Aligned Error matrix for VCL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.6/ 100

Confident

1,134 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)25%
Low(50–70)6%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy
Hereditary neuropathy or pain disorder
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

dilated cardiomyopathy 1W
0.69
hypertrophic cardiomyopathy 15
0.66
hypertrophic cardiomyopathy
0.65
familial isolated dilated cardiomyopathy
0.64
cancer
0.61
Noonan syndrome
0.53
Costello syndrome
0.51
dilated cardiomyopathy
0.45
Rare familial disorder with hypertrophic cardiomyopathy
0.39
cardiofaciocutaneous syndrome
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vinculin

Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion