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Aga Gene Detail
Summary
  • Symbol
    Aga
  • Name
    aspartylglucosaminidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:104873
    NCBI Gene: 11593
  • Gene Overview
    MyGene.info: AGA
Location & Maps
more
  • Sequence Map
    Chr8:53511702-53523421 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11720 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 29.13 cM, cytoband B3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    AGA, aspartylglucosaminidase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AGA, aspartylglucosaminidase
    Orthology source: HomoloGene
  • Synonyms
    AGU, ASRG, GA
  • Links
    NCBI Gene ID: 175
    neXtProt AC: NX_P20933

  • Chr Location
    4q34.3; chr4:177430774-177442503 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Aga mouse models; 1 with human AGA associations

Human Disease Mouse Models
       Aspartylglucosaminuria; AGU   OMIM: 208400 View 2 models
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
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  • Phenotype Summary
    33 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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
    3
  • Chemically induced (other)
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Aga
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
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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 ENSMUSG00000031521 Ensembl Gene Model | MGI Sequence Detail 11720 C57BL/6J ±  kb
transcript ENSMUST00000033920 Ensembl | MGI Sequence Detail 1289 Not Applicable  
polypeptide ENSMUSP00000033920 Ensembl | MGI Sequence Detail 346 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    180 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003812 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
  • EC
  • InterPro Domains
    IPR029055 Nucleophile aminohydrolases, N-terminal
    IPR000246 Peptidase T2, asparaginase 2
Molecular
Reagents
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  • All nucleic 47
    Genomic 5
    cDNA 41
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-28172, MGI:2142754
References
more
  • Summaries
    All 32
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 5
    Phenotypes 10
  • Earliest
    J:39557 Makino M, et al., Enzymatic cleavage of glycopeptides. Biochem Biophys Res Commun. 1966 Sep 22;24(6):961-6
  • Latest
    J:112542 Kelo E, et al., Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy. Glycobiology. 2005 Jan;15(1):79-85

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
07/19/2016
MGI 6.04
The Jackson Laboratory