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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:102246682-102259194 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 57.49 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    280 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443767
 protein coding gene Chr15:102246682-102259206 (-)
129S1/SvImJ ENSMUSG00200049897
 protein coding gene Chr15:99471153-99484260 (-)
A/J ENSMUSG00195037004
 protein coding gene Chr15:99360201-99373804 (-)
AKR/J ENSMUSG00220048996
 protein coding gene Chr15:99331247-99344354 (-)
BALB/cJ ENSMUSG00180040902
 protein coding gene Chr15:99243225-99256760 (-)
C3H/HeJ ENSMUSG00175044093
 protein coding gene Chr15:99562075-99575677 (-)
C57BL/6NJ ENSMUSG00215049246
 protein coding gene Chr15:99286658-99300196 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020348
 protein coding gene Chr15:96172352-96184541 (-)
CAST/EiJ ENSTCUG00005045356
 protein coding gene Chr15:98766913-98780497 (-)
CBA/J ENSMUSG00210026479
 protein coding gene Chr15:99313585-99326860 (-)
DBA/2J ENSMUSG00185038391
 protein coding gene Chr15:99331110-99344215 (-)
FVB/NJ ENSMUSG00205038929
 protein coding gene Chr15:99035637-99048743 (-)
JF1/MsJ ENSUMUG00000044328
 protein coding gene Chr15:98791459-98804784 (-)
LP/J ENSMUSG00230005600
 protein coding gene Chr15:102692204-102705310 (-)
NOD/ShiLtJ ENSMUSG00190027671
 protein coding gene Chr15:99275957-99289062 (-)
NZO/HlLtJ ENSMUSG00225027257
 protein coding gene Chr15:102872019-102885125 (-)
PWK/PhJ ENSLUMG00010048485
 protein coding gene Chr15:99002757-99016064 (-)
SPRET/EiJ ENSMSPG00010048765
 protein coding gene Chr15:100793998-100805983 (-)
WSB/EiJ ENSIUOG00005029936
 protein coding gene Chr15:99420842-99433947 (-)



Homology
more
  • Human Ortholog
    AAAS, aladin WD repeat nucleoporin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AAAS, aladin WD repeat nucleoporin
  • Synonyms
    AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
  • Links
    NCBI Gene ID: 8086
    UniProt: Q9NRG9

  • Chr Location
    12q13.13; chr12:53307456-53324864 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human AAAS associations

Human Disease Mouse Models
      
IDs
IDs
 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
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    32 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.
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
less
  • All GO Annotations
    38
  • GO References
    10
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
    597
  • cDNA Data
    106
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 106

      Microarray probesets 3
    References
    more
    • Summaries
      All 61
      Diseases 2
      Gene Ontology 10
      Phenotypes 32
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:387680 Ahn B, et al., Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice. Genes (Basel). 2026 Jan 31;17(2)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory