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AVIL Gene(Protein Coding)

Advillin

GCID:
GC12M057793
GIFtS:
41
Genes Participants
UDN Logo

Aliases for AVIL Gene

Aliases for AVIL Gene

  • Advillin 2 3 3 5
  • P92 3 4
  • ADVIL 3
  • DOC6 3

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. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is VIL1.

UniProtKB/Swiss-Prot for AVIL Gene

  • Ca(2+)-regulated actin-binding protein. 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.

Additional gene information for AVIL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVIL Gene

Genomics for AVIL Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AVIL Gene

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
GH12I057886 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -73.5 -73471 13.7 HDGF PKNOX1 SMAD1 SIN3A ZNF2 IRF4 ZNF143 FOS SP3 JUNB LOC101927608 ATP23 EEF1AKMT3 CTDSP2 TSFM MIR26A2 AVIL RNU6-1083P MARCH9 LOC283387
GH12I057863 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -45.1 -45094 2.6 ATF1 SIN3A GLIS2 ATF7 DEK SP3 REST SMARCB1 ZNF184 SMARCA4 EEF1AKMT3 MIR26A2 CDK4 AVIL RNU6-1083P TSFM METTL1 CYP27B1 MARCH9 CTDSP2
GH12I057868 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -49.5 -49542 2 PKNOX1 POLR2A SCRT2 KLF17 FOXP2 ZBTB8A EEF1AKMT3 AVIL CTDSP2 MIR26A2 TSFM METTL1 CYP27B1 RNU6-1083P CDK4 MARCH9
GH12I057905 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 -85.8 -85805 0.9 CLOCK ARNT ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 E2F8 ZNF143 ATP23 MIR26A2 RNU6-1083P CTDSP2 AVIL TSFM CYP27B1 EEF1AKMT3 METTL1 CDK4
GH12I057880 Enhancer 0.8 ENCODE dbSUPER 10.8 -61.7 -61724 1.3 STAT1 ESRRA MXI1 JUN MAX MNT FOXA1 GTF3C2 ZNF664 GATA3 ATP23 CTDSP2 MIR26A2 AVIL RNU6-1083P TSFM LOC102724211 LOC101927608 LOC283387
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AVIL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AVIL gene promoter:

Genomic Locations for AVIL Gene

Genomic Locations for AVIL Gene
chr12:57,797,372-57,819,824
(GRCh38/hg38)
Size:
22,453 bases
Orientation:
Minus strand
chr12:58,191,159-58,212,487
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for AVIL Gene

Proteins for AVIL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 actin. Interacts with SCARF1 (By similarity). Interacts with F-actin.

    Three dimensional structures from OCA and Proteopedia for AVIL Gene

    Alternative splice isoforms for AVIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AVIL Gene

Protein Expression for AVIL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AVIL Gene

No Post-translational modifications

Other Protein References for AVIL Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for AVIL Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AVIL Gene

UniProtKB/Swiss-Prot Function:
Ca(2+)-regulated actin-binding protein. 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.

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:0051015 actin filament binding IEA --
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 tm1(ALPP)Fawa

Animal Model Products

CRISPR Products

miRNA for AVIL Gene

miRTarBase miRNAs that target AVIL

Inhibitory RNA Products

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. Cell projection, axon.

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
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton TAS 9664034
GO:0030424 axon IEA --
GO:0042995 cell projection ISS --
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

SuperPathways for AVIL Gene

PathCards logo More details on SuperPathways for AVIL
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:0007399 nervous system development TAS 9664034
GO:0010976 positive regulation of neuron projection development IEA,ISS --
GO:0051693 actin filament capping IEA --
GO:0060271 cilium assembly IMP 20393563
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for AVIL Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AVIL Gene

(7) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AVIL Gene

Advillin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
AVIL

Expression for AVIL Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for AVIL Gene
mRNA expression by GTEx for AVIL GenemRNA expression by BioGPS 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, PaxDb, and MOPED for AVIL Gene



NURSA nuclear receptor signaling pathways regulating expression of AVIL Gene:

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.

Evidence on tissue expression from TISSUES for AVIL Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with AVIL: view

Primer Products

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 33 34
  • 99.35 (n)
cow
(Bos Taurus)
 Mammalia AVIL 33 34
  • 89.83 (n)
dog
(Canis familiaris)
 Mammalia AVIL 33 34
  • 88.4 (n)
mouse
(Mus musculus)
 Mammalia Avil 33 16 34
  • 86.77 (n)
rat
(Rattus norvegicus)
 Mammalia Avil 33
  • 86.45 (n)
oppossum
(Monodelphis domestica)
 Mammalia AVIL 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves -- 34
  • 54 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia AVIL 34
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia avil 33
  • 70.09 (n)
Str.5242 33
zebrafish
(Danio rerio)
 Actinopterygii avil 33 34
  • 65.92 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Gel 35
  • 37 (a)
worm
(Caenorhabditis elegans)
 Secernentea K06A4.3 35
  • 34 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons VLN2 33
  • 47.31 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0356700 33
  • 46.21 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 51 (a)
 OneToMany
Species where no ortholog for AVIL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for AVIL Gene

Paralogs for AVIL Gene

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

genes like me logo Genes that share paralogs with AVIL: view

Variants for AVIL Gene

Sequence variations from dbSNP and Humsavar for AVIL Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs114214463 uncertain-significance, Combined oxidative phosphorylation deficiency 57,797,580(-) G/C 3_prime_UTR_variant
rs184926061 uncertain-significance, Combined oxidative phosphorylation deficiency 57,796,995(-) C/T downstream_transcript_variant
rs57561819 uncertain-significance, Combined oxidative phosphorylation deficiency 57,797,541(-) C/G 3_prime_UTR_variant
rs58949411 uncertain-significance, Combined oxidative phosphorylation deficiency 57,797,478(-) A/G 3_prime_UTR_variant
rs886049733 uncertain-significance, Combined oxidative phosphorylation deficiency 57,797,044(-) T/C downstream_transcript_variant

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

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

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

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

Disorders for AVIL Gene

Additional Disease Information for AVIL

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for AVIL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and 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 22 58
  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 22 58
  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 58
  4. Functional genomic screen for modulators of ciliogenesis and cilium length. (PMID: 20393563) Kim J … Gleeson JG (Nature 2010) 3 4 58
  5. Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants. (PMID: 18022635) Piana S … Martins JC (Journal of molecular biology 2008) 3 22 58

Products for AVIL Gene

Sources for AVIL Gene

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