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Aga Gene Detail
Summary
  • Symbol
    Aga
  • Name
    aspartylglucosaminidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:104873
    NCBI Gene: 11593
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:53964762-53976456 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 29.13 cM, cytoband B3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    559 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104873
 protein coding gene Chr8:53964718-53976457 (+)
129S1/SvImJ ENSMUSG00200005852
 protein coding gene Chr8:49061969-49073668 (+)
A/J ENSMUSG00195003912
 protein coding gene Chr8:49563519-49575223 (+)
AKR/J ENSMUSG00220003866
 protein coding gene Chr8:49378195-49389893 (+)
BALB/cJ ENSMUSG00180002691
 protein coding gene Chr8:49131437-49143131 (+)
C3H/HeJ ENSMUSG00175005105
 protein coding gene Chr8:49275099-49286795 (+)
C57BL/6NJ ENSMUSG00215010299
 protein coding gene Chr8:49056159-49067855 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031051
 protein coding gene Chr8:46782776-46793791 (+)
CAST/EiJ ENSTCUG00005018928
 protein coding gene Chr8:48973977-48985647 (+)
CBA/J ENSMUSG00210018974
 protein coding gene Chr8:49111003-49122718 (+)
DBA/2J ENSMUSG00185007710
 protein coding gene Chr8:55010221-55021916 (+)
FVB/NJ ENSMUSG00205002695
 protein coding gene Chr8:48276992-48288700 (+)
JF1/MsJ ENSUMUG00000004900
 protein coding gene Chr8:56613494-56625075 (+)
LP/J ENSMUSG00230015630
 protein coding gene Chr8:58671690-58683384 (+)
NOD/ShiLtJ ENSMUSG00190006062
 protein coding gene Chr8:49167301-49178997 (+)
NZO/HlLtJ ENSMUSG00225030314
 protein coding gene Chr8:62244500-62256197 (+)
PWK/PhJ ENSLUMG00010008892
 protein coding gene Chr8:48892854-48904384 (+)
SPRET/EiJ ENSMSPG00010005881
 protein coding gene Chr8:49848784-49860505 (+)
WSB/EiJ ENSIUOG00005002538
 protein coding gene Chr8:49974206-49985939 (+)



Homology
more
  • Human Ortholog
    AGA, aspartylglucosaminidase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AGA, aspartylglucosaminidase
  • Synonyms
    AGU, ASRG, GA
  • Links
    NCBI Gene ID: 175
    UniProt: P20933

  • Chr Location
    4q34.3; chr4:177430774-177442444 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aga mouse models; 2 with human AGA associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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.
Mice homozygous for targeted mutations that inactivate this gene die prematurely and share most of the clinical, biochemical and histopathological characteristics of human aspartylglycosaminuria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    11
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
    692
  • Tissues
    94
  • cDNA Data
    42
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031521 Ensembl Gene Model | MGI Sequence Detail 11695 C57BL/6J ±  kb
    transcript ENSMUST00000033920 Ensembl | MGI Sequence Detail 1181 Not Applicable  
    polypeptide ENSMUSP00000033920 Ensembl | MGI Sequence Detail 346 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 5
      cDNA 42
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-28172, MGI:2142754
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 11
      Phenotypes 14
    • Earliest
      J:39557 Makino M, et al., Enzymatic cleavage of glycopeptides. Biochem Biophys Res Commun. 1966 Sep 22;24(6):961-6
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory