AlphaFold predicted structure
SVIL · O95425
Mean pLDDT
53.4/ 100
Low
2,214 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)16%
- Low(50–70)8%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SVIL
Chr 10p11.23supervillin
- MANE:
- ENST00000355867.9
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalCongenital myopathy
BIALLELIC, autosomal or pseudoautosomalHypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
myofibrillar myopathy 10
0.60neurodegenerative disease
0.40sialolithiasis
0.33biliary tract disorder
0.32Splenomegaly
0.32Anisometropia
0.31secondary malignant neoplasm
0.28DNA methylation
0.28Apnea
0.28osteoarthritis, hip
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Supervillin
Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function (PubMed:19109420). In addition to its cytoskeletal activities, acts as a cofactor or scaffold for KDM1A, facilitating H3K9me2 demethylation and promoting gene activation, especially in neuronal contexts (PubMed:25684206)