The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] See more...

Aliases for AVIL Gene

Aliases for AVIL Gene

  • Advillin 2 3 4 5
  • P92 2 3 4
  • ADVIL 2 3
  • DOC6 2 3
  • FLJ12386 2
  • NPHS21 3
  • AVIL 5

External Ids for AVIL Gene

Previous GeneCards Identifiers for AVIL Gene

  • GC12M058334
  • GC12M057907
  • GC12M056477
  • GC12M058191
  • GC12M055228

Summaries for AVIL Gene

Entrez Gene Summary for AVIL Gene

  • The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]

GeneCards Summary for AVIL Gene

AVIL (Advillin) is a Protein Coding gene. Diseases associated with AVIL include Nephrotic Syndrome, Type 21 and Nephrotic Syndrome. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is VIL1.

UniProtKB/Swiss-Prot Summary for AVIL Gene

  • Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AVIL Gene

Genomics for AVIL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AVIL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057816 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.4 1403 3.4 IKZF1 JUND REST NR2C1 CBX3 EGR1 CTBP1 NR2C2 MYC RBM22 AVIL TSFM ENSG00000269903 CTDSP2
GH12J057819 Enhancer 0.6 Ensembl 600.7 -1.1 -1097 0.8 GATAD2A RXRB POLR2A FOXA2 RBM22 GABPA PAF1 HLF NR2F6 PPARG AVIL TSFM EEF1AKMT3 piR-44303 CTDSP2
GH12J057886 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -74.6 -74591 13.7 SP1 GATAD2A PRDM10 LEF1 IKZF1 KDM1A ZNF692 BACH1 FOXA1 LARP7 ENSG00000273805 LOC101927608 piR-44610-003 ATP23 EEF1AKMT3 CTDSP2 TSFM MIR26A2 AVIL RNU6-1083P
GH12J057863 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.6 -46.2 -46214 2.6 CEBPG TEAD4 PRDM10 ZNF692 BACH1 LARP7 ZSCAN4 PATZ1 EZH2 POLR2A EEF1AKMT3 TSPAN31 MIR26A2 CDK4 AVIL RNU6-1083P TSFM METTL1 CYP27B1 MARCHF9
GH12J057868 Enhancer 1 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13.3 -50.7 -50662 2 SCRT2 POLR2A KLF17 SMARCA4 ZBTB8A PKNOX1 EEF1AKMT3 AVIL CTDSP2 MIR26A2 TSFM METTL1 CYP27B1 RNU6-1083P MARCHF9 CDK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AVIL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AVIL

Top Transcription factor binding sites by QIAGEN in the AVIL gene promoter:
  • aMEF-2
  • AML1a
  • E47
  • Egr-3
  • FOXI1
  • HEN1
  • HFH-3
  • HOXA3
  • Ik-3
  • MEF-2A

Genomic Locations for AVIL Gene

Genomic Locations for AVIL Gene
chr12:57,797,376-57,818,704
(GRCh38/hg38)
Size:
21,329 bases
Orientation:
Minus strand
chr12:58,191,159-58,212,487
(GRCh37/hg19)
Size:
21,329 bases
Orientation:
Minus strand

Genomic View for AVIL Gene

Genes around AVIL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVIL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVIL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVIL Gene

Proteins for AVIL Gene

  • Protein details for AVIL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75366-AVIL_HUMAN
    Recommended name:
    Advillin
    Protein Accession:
    O75366
    Secondary Accessions:
    • B2RAU7
    • Q2NKM9

    Protein attributes for AVIL Gene

    Size:
    819 amino acids
    Molecular mass:
    92027 Da
    Quaternary structure:
    • Associates (via C-terminus) with F-actin (PubMed:15096633, PubMed:29058690). Interacts with SCARF1 (By similarity). Interacts with PLCE1 (PubMed:29058690). Interacts with ACTR2 and ACTR3; associates with the ARP2/3 complex (PubMed:29058690).

    Three dimensional structures from OCA and Proteopedia for AVIL Gene

    Alternative splice isoforms for AVIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVIL Gene

Post-translational modifications for AVIL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AVIL Gene

Domains & Families for AVIL Gene

Gene Families for AVIL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AVIL Gene

InterPro:
Blocks:
  • Villin headpiece
  • Gelsolin family signature
  • Gelsolin region
ProtoNet:

Suggested Antigen Peptide Sequences for AVIL Gene

GenScript: Design optimal peptide antigens:
  • p92 (AVIL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75366

UniProtKB/Swiss-Prot:

AVIL_HUMAN :
  • Belongs to the villin/gelsolin family.
Family:
  • Belongs to the villin/gelsolin family.
genes like me logo Genes that share domains with AVIL: view

Function for AVIL Gene

Molecular function for AVIL Gene

UniProtKB/Swiss-Prot Function:
Ca(2+)-regulated actin-binding protein which plays an important role in actin bundling (PubMed:29058690). May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis. In podocytes, controls lamellipodia formation through the regulation of EGF-induced diacylglycerol generation by PLCE1 and ARP2/3 complex assembly (PubMed:29058690).

Phenotypes From GWAS Catalog for AVIL Gene

Gene Ontology (GO) - Molecular Function for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005515 protein binding IPI 29058690
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0051015 actin filament binding IEA,IDA 29058690
GO:0071933 Arp2/3 complex binding IDA 29058690
genes like me logo Genes that share ontologies with AVIL: view
genes like me logo Genes that share phenotypes with AVIL: view

Animal Models for AVIL Gene

MGI Knock Outs for AVIL:
  • Avil Avil<tm1(ALPP)Fawa>

Animal Model Products

CRISPR Products

miRNA for AVIL Gene

miRTarBase miRNAs that target AVIL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVIL

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AVIL Gene

Localization for AVIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVIL Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell junction, focal adhesion. Cell projection, neuron projection. Cell projection, axon. Note=In podocytes, present in the F-actin-enriched cell periphery that generates lamellipodia and focal adhesions. {ECO:0000269 PubMed:29058690}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AVIL gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 29058690
GO:0005925 focal adhesion IDA 29058690
GO:0015629 actin cytoskeleton TAS,IBA 21873635
genes like me logo Genes that share ontologies with AVIL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVIL Gene

Pathways & Interactions for AVIL Gene

PathCards logo

SuperPathways for AVIL Gene

No Data Available

Gene Ontology (GO) - Biological Process for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007015 actin filament organization IMP 29058690
GO:0007399 nervous system development TAS 9664034
GO:0008154 actin polymerization or depolymerization IBA 21873635
GO:0010592 positive regulation of lamellipodium assembly IMP 29058690
genes like me logo Genes that share ontologies with AVIL: view

No data available for Pathways by source and SIGNOR curated interactions for AVIL Gene

Drugs & Compounds for AVIL Gene

No Compound Related Data Available

Transcripts for AVIL Gene

mRNA/cDNA for AVIL Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVIL

Alternative Splicing Database (ASD) splice patterns (SP) for AVIL Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - -
SP2: - - - -
SP3: -
SP4:
SP5: -

ExUns: 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for AVIL Gene

GeneLoc Exon Structure for
AVIL

Expression for AVIL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AVIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AVIL Gene

This gene is overexpressed in Spinal cord (57.3) and Liver, secretome (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AVIL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AVIL

SOURCE GeneReport for Unigene cluster for AVIL Gene:

Hs.584854

mRNA Expression by UniProt/SwissProt for AVIL Gene:

O75366-AVIL_HUMAN
Tissue specificity: Most highly expressed in the small intestine and colonic lining. Weaker expression also detected in the thymus, prostate, testes and uterus (PubMed:12034507). Expressed in podocytes (at protein level) (PubMed:29058690).

Evidence on tissue expression from TISSUES for AVIL Gene

  • Nervous system(4.5)
  • Skin(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with AVIL: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AVIL Gene

Orthologs for AVIL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AVIL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AVIL 30 31
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AVIL 30 31
  • 89.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AVIL 30 31
  • 88.4 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Avil 30 17 31
  • 86.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Avil 30
  • 86.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia AVIL 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 54 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia AVIL 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia avil 30
  • 70.09 (n)
Str.5242 30
Zebrafish
(Danio rerio)
Actinopterygii avil 30 31
  • 65.92 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Gel 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea K06A4.3 32
  • 34 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons VLN2 30
  • 47.31 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0356700 30
  • 46.21 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Species where no ortholog for AVIL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AVIL Gene

ENSEMBL:
Gene Tree for AVIL (if available)
TreeFam:
Gene Tree for AVIL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AVIL: view image

Paralogs for AVIL Gene

Paralogs for AVIL Gene

(8) SIMAP similar genes for AVIL Gene using alignment to 3 proteins:

  • AVIL_HUMAN
  • F8VNY0_HUMAN
  • F8VVU1_HUMAN
genes like me logo Genes that share paralogs with AVIL: view

Variants for AVIL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AVIL Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
684648 Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 57,807,649(-) G/T MISSENSE_VARIANT
684649 Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 57,807,485(-) C/T MISSENSE_VARIANT
684650 Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 57,811,062(-) C/T MISSENSE_VARIANT
684651 Pathogenic: Steroid-resistant nephrotic syndrome; NEPHROTIC SYNDROME, TYPE 21 57,802,346(-) C/CA FRAMESHIFT_VARIANT,INTRON_VARIANT
713418 Benign: not provided 57,816,005(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AVIL Gene

Structural Variations from Database of Genomic Variants (DGV) for AVIL Gene

Variant ID Type Subtype PubMed ID
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559046 CNV gain 21841781

Variation tolerance for AVIL Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AVIL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVIL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVIL Gene

Disorders for AVIL Gene

MalaCards: The human disease database

(5) MalaCards diseases for AVIL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 21
  • nphs21
nephrotic syndrome
  • finnish congenital nephrotic syndrome
combined oxidative phosphorylation deficiency 3
  • coxpd3
uvulitis
  • acute uvulitis
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search AVIL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AVIL_HUMAN
  • Nephrotic syndrome 21 (NPHS21) [MIM:618594]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. {ECO:0000269 PubMed:29058690}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with AVIL: view

No data available for Genatlas for AVIL Gene

Publications for AVIL Gene

  1. Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. (PMID: 9664034) Marks PW … Kwiatkowski DJ (Journal of cell science 1998) 2 3 4 23
  2. Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements. (PMID: 15096633) Vermeulen W … Borremans FA (Protein science : a publication of the Protein Society 2004) 3 4 23
  3. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). (PMID: 12034507) Tümer Z … Schreiber S (Gene 2002) 2 3 4
  4. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. (PMID: 29058690) Rao J … Hildebrandt F (The Journal of clinical investigation 2017) 3 4
  5. Functional genomic screen for modulators of ciliogenesis and cilium length. (PMID: 20393563) Kim J … Gleeson JG (Nature 2010) 3 4

Products for AVIL Gene

Sources for AVIL Gene