This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in... See more...

Aliases for AGA Gene

Aliases for AGA Gene

  • Aspartylglucosaminidase 2 3 4 5
  • N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase 2 3 4
  • Glycosylasparaginase 2 3 4
  • N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase 3 4
  • EC 4 50
  • ASRG 2 3
  • Aspartylglucosylamine Deaspartylase 3
  • EC 3.5.1 50
  • AGU 3
  • AGA 5
  • GA 3

External Ids for AGA Gene

Previous GeneCards Identifiers for AGA Gene

  • GC04M179239
  • GC04M178901
  • GC04M179047
  • GC04M178727
  • GC04M178588
  • GC04M178351
  • GC04M174102

Summaries for AGA Gene

Entrez Gene Summary for AGA Gene

  • This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]

GeneCards Summary for AGA Gene

AGA (Aspartylglucosaminidase) is a Protein Coding gene. Diseases associated with AGA include Aspartylglucosaminuria and Lysosomal Storage Disease. Among its related pathways are Lysosome and asparagine degradation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and protein self-association. An important paralog of this gene is ASRGL1.

UniProtKB/Swiss-Prot Summary for AGA Gene

  • Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

Gene Wiki entry for AGA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGA Gene

Genomics for AGA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J177440 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 305.5 +0.4 379 3 BCLAF1 SP1 ZNF207 MYC ZNF600 ZNF580 ZMYM3 POLR2A CEBPA ZSCAN16 AGA ENSG00000250131 LOC285500 HSALNG0038750 NEIL3
GH04J177444 Promoter/Enhancer 0.8 Ensembl ENCODE 14.6 -3.3 -3332 2.4 POLR2A ZFP91 TAF1 ZBTB33 KLF1 HSALNG0038751 AGA ENSG00000249008 ENSG00000250131 LOC285500 RF00001-225 RNA5SP172
GH04J177393 Enhancer 0.9 Ensembl ENCODE 11.7 +49.5 49468 1.6 CEBPA THAP11 FOXA2 RXRA ETV4 MIER3 RARA ZBTB33 FOXP1 SOX5 AGA ENSG00000250131 ENSG00000249008 lnc-NEIL3-1 piR-49400-061 NEIL3
GH04J177403 Enhancer 0.5 Ensembl 16 +38.7 38652 1.2 ETV1 CAVIN1 PTTG1 NR4A1 ZNF740 GTF2A2 AGA ENSG00000250131 piR-49400-061 lnc-NEIL3-1 NEIL3
GH04J177455 Enhancer 0.7 Ensembl 9 -13.2 -13231 0.6 NCOR1 NFIC ZIC2 FEZF1 TAF9B TAL1 ZNF843 ZNF146 PRDM6 ZNF318 RF00001-225 RNA5SP172 ENSG00000249008 AGA LOC285500 ENSG00000250131 HSALNG0038751
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGA

Top Transcription factor binding sites by QIAGEN in the AGA gene promoter:
  • Cdc5
  • Chx10
  • ER-alpha
  • IRF-7A
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • POU6F1 (c2)

Genomic Locations for AGA Gene

Latest Assembly
11,696 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
11,664 bases
Minus strand

(GRCh37/hg19 by Ensembl)
11,734 bases
Minus strand

Genomic View for AGA Gene

Genes around AGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGA Gene

Proteins for AGA Gene

  • Protein details for AGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R7H2
    • D3DP47
    • Q4W5Q2
    • Q6FHN6
    • Q9UCK6
    • Q9UCK7
    • Q9UCK8

    Protein attributes for AGA Gene

    346 amino acids
    Molecular mass:
    37208 Da
    Quaternary structure:
    • Heterotetramer of two alpha and two beta chains arranged as a dimer of alpha/beta heterodimers.

    Three dimensional structures from OCA and Proteopedia for AGA Gene

neXtProt entry for AGA Gene

Selected DME Specific Peptides for AGA Gene


Post-translational modifications for AGA Gene

  • Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.
  • N-glycosylated.
  • Glycosylation at Asn38 and Asn308
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for AGA Gene

Antibodies for research

Domains & Families for AGA Gene

Gene Families for AGA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AGA Gene

  • Asparaginase 2 family

Suggested Antigen Peptide Sequences for AGA Gene

GenScript: Design optimal peptide antigens:
  • N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase (ASPG_HUMAN)
  • Aspartylglycosaminuria (Q13726_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Ntn-hydrolase family.
  • Belongs to the Ntn-hydrolase family.
genes like me logo Genes that share domains with AGA: view

Function for AGA Gene

Molecular function for AGA Gene

UniProtKB/Swiss-Prot Function:
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine; Xref=Rhea:RHEA:11544, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15947, ChEBI:CHEBI:29991, ChEBI:CHEBI:58080; EC=; Evidence={ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2401370};.
GENATLAS Biochemistry:
aspartyl-N-acetylglucosaminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism)

Enzyme Numbers (IUBMB) for AGA Gene

Phenotypes From GWAS Catalog for AGA Gene

Gene Ontology (GO) - Molecular Function for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003948 N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IBA,IMP 1904874
GO:0005515 protein binding IPI 32814053
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with AGA: view
genes like me logo Genes that share phenotypes with AGA: view

Human Phenotype Ontology for AGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGA Gene

MGI Knock Outs for AGA:
  • Aga Aga<tm1Pltn>
  • Aga Aga<tm1Vk>

miRNA for AGA Gene

miRTarBase miRNAs that target AGA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGA

No data available for Transcription Factor Targets and HOMER Transcription for AGA Gene

Localization for AGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGA Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGA gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
cytoskeleton 3
nucleus 3
cytosol 2
plasma membrane 1
mitochondrion 1
endosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IBA,IDA 8776587
GO:0005783 endoplasmic reticulum IDA 8776587
genes like me logo Genes that share ontologies with AGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGA Gene

Pathways & Interactions for AGA Gene

genes like me logo Genes that share pathways with AGA: view

Pathways by source for AGA Gene

1 BioSystems pathway for AGA Gene
2 KEGG pathways for AGA Gene

Gene Ontology (GO) - Biological Process for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006517 protein deglycosylation IBA,IMP 1904874
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with AGA: view

No data available for SIGNOR curated interactions for AGA Gene

Drugs & Compounds for AGA Gene

(10) Drugs for AGA Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1706
Water Approved Pharma 0
Aspartic acid Approved Nutra 195
Pharmaceutical Solutions Pharma 13050

(5) Additional Compounds for AGA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • N-Acetyl-b-D-glucosaminylamine
  • N-Acetyl-beta-D-glucosaminylamine
  • N-Acetyl-beta-delta-glucosaminylamine
  • N-Acetyl-beta-glucosaminylamine
  • N-[2-Amino-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]ethanamide
genes like me logo Genes that share compounds with AGA: view

Transcripts for AGA Gene

mRNA/cDNA for AGA Gene

18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGA

Alternative Splicing Database (ASD) splice patterns (SP) for AGA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP2: -

Relevant External Links for AGA Gene

GeneLoc Exon Structure for

Expression for AGA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGA Gene

This gene is overexpressed in NK cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGA Gene

Protein tissue co-expression partners for AGA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGA

SOURCE GeneReport for Unigene cluster for AGA Gene:


Evidence on tissue expression from TISSUES for AGA Gene

  • Liver(4.4)
  • Nervous system(3.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • pelvis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AGA: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AGA Gene

Orthologs for AGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGA 29 30
  • 99.33 (n)
(Canis familiaris)
Mammalia AGA 29 30
  • 85.57 (n)
(Rattus norvegicus)
Mammalia Aga 29
  • 84.73 (n)
(Mus musculus)
Mammalia Aga 29 16 30
  • 84.3 (n)
(Bos Taurus)
Mammalia AGA 29 30
  • 83.6 (n)
(Monodelphis domestica)
Mammalia AGA 30
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia AGA 30
  • 68 (a)
(Gallus gallus)
Aves AGA 29 30
  • 71.26 (n)
(Anolis carolinensis)
Reptilia AGA 30
  • 65 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aga 29
  • 67.91 (n)
Str.19528 29
(Danio rerio)
Actinopterygii aga 29 30
  • 66.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1827 29 30 31
  • 57.1 (n)
CG10474 30 31
  • 48 (a)
CG4372 30 31
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012301 29
  • 54.1 (n)
(Caenorhabditis elegans)
Secernentea R04B3.2 29 30 31
  • 56.95 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G61540 29
  • 56.97 (n)
(Oryza sativa)
Liliopsida Os04g0549300 29
  • 56.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9637 30
  • 53 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3930 29
Species where no ortholog for AGA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AGA Gene

Gene Tree for AGA (if available)
Gene Tree for AGA (if available)
Evolutionary constrained regions (ECRs) for AGA: view image
Alliance of Genome Resources:
Additional Orthologs for AGA

Paralogs for AGA Gene

Paralogs for AGA Gene

genes like me logo Genes that share paralogs with AGA: view

Variants for AGA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1000280 Uncertain Significance: Aspartylglucosaminuria 177,434,431(-) C/T
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
1025178 Uncertain Significance: Aspartylglucosaminuria 177,431,762(-) C/G
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
835213 Pathogenic: Aspartylglucosaminuria 177,439,593(-) AGT/A
NM_000027.4(AGA):c.367_368AC[4] (p.Leu126fs)
835340 Pathogenic: Aspartylglucosaminuria 177,437,468(-) TACCA/T
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
852651 Pathogenic: Aspartylglucosaminuria 177,433,295(-) G/A
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AGA Gene

Variant ID Type Subtype PubMed ID
esv2728772 CNV deletion 23290073
esv2759304 CNV gain 17122850
esv3569840 CNV loss 25503493

Variation tolerance for AGA Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGA Gene

Disorders for AGA Gene

MalaCards: The human disease database

(6) MalaCards diseases for AGA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
  • agu
lysosomal storage disease
  • disorder of lysosomal enzyme
lysosomal disease
  • angiokeratoma of skin
fabry disease
  • angiokeratoma corporis diffusum
- elite association - COSMIC cancer census association via MalaCards
Search AGA in MalaCards View complete list of genes associated with diseases


  • Aspartylglucosaminuria (AGU) [MIM:208400]: An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. {ECO:0000269 PubMed:11309371, ECO:0000269 PubMed:1703489, ECO:0000269 PubMed:1904874, ECO:0000269 PubMed:2011603, ECO:0000269 PubMed:8776587, ECO:0000269 PubMed:9137882}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for AGA Gene


Additional Disease Information for AGA

genes like me logo Genes that share disorders with AGA: view

Publications for AGA Gene

  1. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (PMID: 11309371) Saarela J … Peltonen L (Human molecular genetics 2001) 3 4 22 72
  2. Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. (PMID: 1904874) Fisher KJ … Aronson NN (The Journal of biological chemistry 1991) 3 4 22 72
  3. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (PMID: 9137882) Laitinen A … Aula P (Clinical genetics 1997) 3 4 22
  4. Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. (PMID: 8776587) Peltola M … Jalanko A (Human molecular genetics 1996) 3 4 22
  5. Three-dimensional structure of human lysosomal aspartylglucosaminidase. (PMID: 8846222) Oinonen C … Peltonen L (Nature structural biology 1995) 3 4 22

Products for AGA Gene

Sources for AGA Gene