HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AVIL
advillin
Chromosome 12 Β· 12q14.1
NCBI Gene: 10677Ensembl: ENSG00000135407.11HGNC: HGNC:14188UniProt: O75366
16PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin filament bindingactin filamentArp2/3 complex bindinglamellipodiumnephrotic syndromesteroid-resistant nephrotic syndromefamilial idiopathic steroid-resistant nephrotic syndromeFatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
✦AI Summary

AVIL (advillin) is a calcium-regulated actin-binding protein primarily functioning in cytoskeletal organization and cell morphogenesis. It regulates actin bundling and filopodia formation in fibroblasts, controls lamellipodia assembly in podocytes through PLCE1 and ARP2/3 complex regulation, and plays critical roles in neuronal development, axon regeneration, and ciliogenesis. In podocytes, AVIL modulates EGF-induced diacylglycerol generation to regulate lamellipodium formation 1. Clinically, AVIL dysregulation is most significant in rhabdomyosarcoma (RMS), the most common pediatric soft-tissue malignancy. AVIL acts as a bona fide oncogene in RMS through multiple mechanisms: it forms oncogenic MARS-AVIL fusion proteins via chr12 inversion, undergoes locus amplification, and is frequently overexpressed in RMS cell lines, patient-derived xenografts, and both alveolar and embryonal RMS subtypes 2. RMS cells exhibit oncogene addiction to AVIL activity, with silencing nearly eradicating cells in culture and inhibiting xenograft growth, while AVIL overexpression transforms mesenchymal stem cells in vitro and in vivo 2. AVIL functions as a converging node upstream of PAX3-FOXO1 and RAS pathways, connecting different RMS subtypes 2. AVIL overexpression correlates with worse clinical prognosis and occurs in other sarcomas 2, making it a potential therapeutic target despite the historical challenges in drugging actin-binding proteins 3. AVIL mutations also associate with nephrotic syndrome 21.

Sources cited
1
AVIL is a Ca2+-regulated actin-binding protein involved in actin bundling, lamellipodia formation in podocytes through PLCE1 and ARP2/3 complex regulation, and ciliogenesis
PMID: 29058690
2
AVIL is a bona fide oncogene in rhabdomyosarcoma, with MARS-AVIL fusion proteins, AVIL locus amplification, and overexpression in most RMS cases; RMS cells are addicted to AVIL activity; AVIL functions upstream of PAX3-FOXO1 and RAS pathways; higher AVIL expression correlates with worse prognosis
PMID: 37146302
3
AVIL is overexpressed in RMS cell lines, patient-derived xenografts, and clinical samples of both alveolar and embryonal RMS subtypes; AVIL overexpression induces neoplastic transformation in mesenchymal stem cells; targeting actin-binding proteins like AVIL may be therapeutically feasible despite historical challenges
PMID: 37762498
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
nephrotic syndromeOpen Targets
0.67Moderate
steroid-resistant nephrotic syndromeOpen Targets
0.47Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.37Weak
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3Open Targets
0.15Weak
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3Open Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
sarcoidosisOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
glioblastomaOpen Targets
0.06Suggestive
intelligenceOpen Targets
0.05Suggestive
multiple sclerosisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Intervertebral Disc DisplacementOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
musculoskeletal system diseaseOpen Targets
0.04Suggestive
peripheral neuropathyOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.03Suggestive
Nephrotic syndrome 21UniProt
Pathogenic Variants4
NM_006576.4(AVIL):c.595C>T (p.Arg199Ter)Likely pathogenic
Nephrotic syndrome, type 21|Nephrotic syndrome|Uterine corpus endometrial carcinoma|Gastric cancer
β˜…β˜…β˜†β˜†2024β†’ Residue 199
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)Likely pathogenic
Nephrotic syndrome, type 21|Steroid-resistant nephrotic syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 135
NM_006576.4(AVIL):c.1337G>A (p.Arg446His)Pathogenic
Steroid-resistant nephrotic syndrome|Nephrotic syndrome, type 21
β˜†β˜†β˜†β˜†2019β†’ Residue 446
NM_006576.4(AVIL):c.1273C>A (p.Leu425Met)Pathogenic
Steroid-resistant nephrotic syndrome|Nephrotic syndrome, type 21
β˜†β˜†β˜†β˜†2019β†’ Residue 425
View on ClinVar β†—
Related Genes
ACTR3Protein interaction88%VILLShared pathway40%SVILShared pathway31%FLIIShared pathway25%CAPGShared pathway25%VIL1Shared pathway21%
Tissue Expression6 tissues
Liver
100%
Lung
93%
Ovary
78%
Heart
74%
Brain
38%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
AVILACTR3VILLSVILFLIICAPGVIL1
PROTEIN STRUCTURE
Preparing viewer…
PDB1UND Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.56–0.81]
RankingsWhere AVIL stands among ~20K protein-coding genes
  • #15,209of 20,598
    Most Researched16
  • #3,869of 5,498
    Most Pathogenic Variants4
  • #6,805of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedAVIL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Rhabdomyosarcomas are oncogene addicted to the activation of AVIL.
PMID: 37146302
Proc Natl Acad Sci U S A Β· 2022
1.00
2
The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.
PMID: 37762498
Int J Mol Sci Β· 2023
0.90
3
Pharmacokinetics of pheniramine (Avil) and metabolites in healthy subjects after oral and intravenous administration.
PMID: 3988394
Int J Clin Pharmacol Ther Toxicol Β· 1985
0.80
4
Drug allergy. I.
PMID: 5550872
Br Med J Β· 1971
0.70
5
Clinical pharmacokinetics of chlorpheniramine.
PMID: 6383755
Drug Intell Clin Pharm Β· 1984
0.60