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Aaas Gene Detail
Summary
  • Symbol
    Aaas
  • Name
    achalasia, adrenocortical insufficiency, alacrimia
  • Synonyms
    Aladin, D030041N15Rik, GL003
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443767
    NCBI Gene: 223921
  • Gene Overview
    MyGene.info: AAAS
Location & Maps
more
  • Sequence Map
    Chr15:102338247-102350759 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12513 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 57.49 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    AAAS, aladin WD repeat nucleoporin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    AAAS, aladin WD repeat nucleoporin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
  • Links
    NCBI Gene ID: 8086
    neXtProt AC: NX_Q9NRG9

  • Chr Location
    12q13; chr12:53307456-53321628 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9232
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: AAAS
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aaas mouse models; 1 with human AAAS associations

Human Disease Mouse Models
       Achalasia-Addisonianism-Alacrima Syndrome; AAAS   OMIM: 231550 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    26 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.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    10
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Aaas
  • Incidental Mutations
Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 223921 NCBI Gene Model | MGI Sequence Detail 12513 C57BL/6J ±  kb
transcript NM_153416 RefSeq | MGI Sequence Detail 1816 C57BL/6  
polypeptide P58742 UniProt | EBI | MGI Sequence Detail 546 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    77 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 104
    cDNA 104

    Microarray probesets 3
References
more
  • Summaries
    All 28
    Diseases 2
    Gene Ontology 5
    Phenotypes 26
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:142754 Hansen GM, et al., Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. 2008 Oct;18(10):1670-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory