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Avil Gene Detail
Summary
  • Symbol
    Avil
  • Name
    advillin
  • Synonyms
    DOC6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333798
    NCBI Gene: 11567
Location & Maps
more
  • Sequence Map
    Chr10:127000709-127020994 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20286 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 74.48 cM, cytoband D3
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    AVIL, advillin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AVIL, advillin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADVIL, DOC6, p92
  • Links
    NCBI Gene ID: 10677
    neXtProt AC: NX_O75366

  • Chr Location
    12q14.1; chr12:57797372-57819824 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 38200
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: AVIL
  • Protein SuperFamily
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034112 VEGA Gene Model | MGI Sequence Detail 20286 C57BL/6J ±  kb
transcript OTTMUST00000086253 VEGA | MGI Sequence Detail 2925 Not Applicable  
polypeptide OTTMUSP00000046679 VEGA | MGI Sequence Detail 819 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    248 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 21
    cDNA 19
    Primer pair 2

    Microarray probesets 3
References
more
  • Summaries
    All 58
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 30
  • Earliest
    J:50817 Wang XZ, et al., Identification of novel stress-induced genes downstream of chop. EMBO J. 1998 Jul 1;17(13):3619-30
  • Latest
    J:232023 Orefice LL, et al., Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Cell. 2016 Jun 8;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory