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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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VILL
villin like
Chromosome 3 · 3p22.2
NCBI Gene: 50853Ensembl: ENSG00000136059.17HGNC: HGNC:30906UniProt: A0A0S2Z5H2
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin filament bindingactin cytoskeletonphosphatidylinositol-4,5-bisphosphate bindingbarbed-end actin filament cappingneurodegenerative diseasedisorder of pilosebaceous unitEpidermal Inclusion Cystsebaceous gland disease
✦AI Summary

VILL (villin like) is located on chromosome 3 and functions as a possible tumor suppressor with roles in actin cytoskeleton organization [UniProt]. The protein exhibits actin filament binding and severing activities, participates in actin polymerization/depolymerization processes, and provides barbed-end actin filament capping capabilities [GO Annotations]. VILL also binds phosphatidylinositol-4,5-bisphosphate and serves as a structural constituent of the cytoskeleton [GO Annotations]. However, the provided PubMed abstracts do not contain specific information about VILL gene function or disease associations. The abstracts focus on various other genetic conditions including limb-girdle weakness 1, dystonia 2, ultrarare disorders 3, hereditary spastic paraplegia 4, G protein signaling 5, spinal muscular atrophy 6, pain insensitivity 7, and DOT1L-related neurodevelopmental disorders 8. Without direct experimental evidence from the provided literature, the clinical significance and disease relevance of VILL mutations remain unclear, though its predicted tumor suppressor function and actin cytoskeleton roles suggest potential involvement in cancer and cellular motility disorders.

Sources cited
1
Study on genetic muscle diseases but does not mention VILL
PMID: 32528171
2
Exome sequencing study of dystonia but does not include VILL findings
PMID: 33098801
3
Study on ultrarare disorders diagnostics but does not report VILL variants
PMID: 39039281
4
Analysis of hereditary spastic paraplegia but does not involve VILL
PMID: 32979048
5
Study on GNAI2 mutations and T cell signaling, unrelated to VILL
PMID: 39298586
6
Clinical trial on spinal muscular atrophy screening, unrelated to VILL
PMID: 38587854
7
Study on pain insensitivity disorders but does not mention VILL
PMID: 37769650
8
Research on DOT1L and neurodevelopmental disorders, unrelated to VILL
PMID: 40494548
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
disorder of pilosebaceous unitOpen Targets
0.41Moderate
Epidermal Inclusion CystOpen Targets
0.40Weak
sebaceous gland diseaseOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.33Weak
chronic laryngitisOpen Targets
0.32Weak
hair anomalyOpen Targets
0.21Weak
osteoarthritis, hipOpen Targets
0.21Weak
Follicular CystOpen Targets
0.18Weak
trichilemmal cystOpen Targets
0.18Weak
osteoarthritisOpen Targets
0.18Weak
skin diseaseOpen Targets
0.18Weak
total hip arthroplastyOpen Targets
0.18Weak
skin appendage disorderOpen Targets
0.17Weak
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
immune system diseaseOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
dysthymic disorderOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SVILShared pathway57%FLIIShared pathway50%CAPGShared pathway50%AVILShared pathway40%ADD3Shared pathway40%DSTNShared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
36%
Lung
27%
Heart
20%
Liver
7%
Brain
5%
Gene Interaction Network
Click a node to explore
VILLSVILFLIICAPGAVILADD3DSTN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O15195
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.80–1.11]
RankingsWhere VILL stands among ~20K protein-coding genes
  • #16,041of 20,598
    Most Researched14
  • #11,337of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedVILL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
PMID: 32528171
Genet Med · 2020
1.00
2
Monogenic variants in dystonia: an exome-wide sequencing study.
PMID: 33098801
Lancet Neurol · 2020
0.90
3
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
PMID: 39039281
Nat Genet · 2024
0.80
4
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
PMID: 32979048
Brain · 2020
0.70
5
Germline mutations in a G protein identify signaling cross-talk in T cells.
PMID: 39298586
Science · 2024
0.60