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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:126836578-126856863 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 74.48 cM, cytoband D3
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    796 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333798
 protein coding gene Chr10:126835933-126856863 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017798
 protein coding gene Chr10:130572528-130594341 (+)
A/J MGP_AJ_G0017773
 protein coding gene Chr10:125344937-125365004 (+)
AKR/J MGP_AKRJ_G0017736
 protein coding gene Chr10:129055729-129075889 (+)
BALB/cJ MGP_BALBcJ_G0017737
 protein coding gene Chr10:125752189-125772314 (+)
C3H/HeJ MGP_C3HHeJ_G0017561
 protein coding gene Chr10:129184993-129208598 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018192
 protein coding gene Chr10:134999175-135021584 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015872
 protein coding gene Chr10:119368712-119388486 (+)
CAST/EiJ MGP_CASTEiJ_G0017121
 protein coding gene Chr10:129834776-129860041 (+)
CBA/J MGP_CBAJ_G0017530
 protein coding gene Chr10:140416912-140438579 (+)
DBA/2J MGP_DBA2J_G0017636
 protein coding gene Chr10:124432040-124452404 (+)
FVB/NJ MGP_FVBNJ_G0017631
 protein coding gene Chr10:123380102-123403736 (+)
LP/J MGP_LPJ_G0017710
 protein coding gene Chr10:131143254-131164300 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017659
 protein coding gene Chr10:143156202-143177167 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018232
 protein coding gene Chr10:129111419-129132886 (+)
PWK/PhJ MGP_PWKPhJ_G0016906
 protein coding gene Chr10:124620948-124642110 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016698
 protein coding gene Chr10:128135639-128156954 (+)
WSB/EiJ MGP_WSBEiJ_G0017182
 protein coding gene Chr10:129330436-129354694 (+)



Homology
more
  • Human Ortholog
    AVIL, advillin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AVIL, advillin
  • Synonyms
    ADVIL, DOC6, NPHS21, p92
  • Links
    NCBI Gene ID: 10677
    neXtProt AC: NX_O75366
    UniProt: O75366

  • Chr Location
    12q14.1; chr12:57797376-57818734 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AVIL associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    23 phenotypes from multigenic genotypes
    145 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
less
  • All GO Annotations
    41
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    871
  • Tissues
    78
  • cDNA Data
    20
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025432 Ensembl Gene Model | MGI Sequence Detail 20286 C57BL/6J ±  kb
    transcript ENSMUST00000026500 Ensembl | MGI Sequence Detail 3033 Not Applicable  
    polypeptide ENSMUSP00000026500 Ensembl | MGI Sequence Detail 819 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 20
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 181
      Developmental Gene Expression 8
      Gene Ontology 9
      Phenotypes 145
    • 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:359444 Jiang H, et al., Divergent sensory pathways of sneezing and coughing. Cell. 2024 Oct 17;187(21):5981-5997.e14
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory