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Hgsnat Gene Detail
Summary
  • Symbol
    Hgsnat
  • Name
    heparan-alpha-glucosaminide N-acetyltransferase
  • Synonyms
    9430010M12Rik, D8Ertd354e, Tmem76
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196297
    NCBI Gene: 52120
  • Alliance
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:26434481-26466781 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 14.22 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1329 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196297
 protein coding gene Chr8:26432495-26466781 (-)
129S1/SvImJ ENSMUSG00200021467
 protein coding gene Chr8:21475695-21508776 (-)
A/J ENSMUSG00195005035
 protein coding gene Chr8:22017574-22050708 (-)
AKR/J ENSMUSG00220025369
 protein coding gene Chr8:21641150-21674281 (-)
BALB/cJ ENSMUSG00180005329
 protein coding gene Chr8:21542156-21575291 (-)
C3H/HeJ ENSMUSG00175006556
 protein coding gene Chr8:21604871-21638004 (-)
C57BL/6NJ ENSMUSG00215009621
 protein coding gene Chr8:21519625-21551927 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030934
 protein coding gene Chr8:20421798-20453049 (-)
CAST/EiJ ENSTCUG00005020880
 protein coding gene Chr8:21811913-21842773 (-)
CBA/J ENSMUSG00210013182
 protein coding gene Chr8:21541411-21574547 (-)
DBA/2J ENSMUSG00185037779
 protein coding gene Chr8:27342107-27375239 (-)
FVB/NJ ENSMUSG00205003308
 protein coding gene Chr8:21040299-21073432 (-)
JF1/MsJ ENSUMUG00000020926
 protein coding gene Chr8:29207703-29238915 (-)
LP/J ENSMUSG00230011864
 protein coding gene Chr8:31101597-31134727 (-)
NOD/ShiLtJ ENSMUSG00190004068
 protein coding gene Chr8:21574885-21608011 (-)
NZO/HlLtJ ENSMUSG00225019597
 protein coding gene Chr8:34722950-34756081 (-)
PWK/PhJ ENSLUMG00010025463
 protein coding gene Chr8:21581851-21613053 (-)
SPRET/EiJ ENSMSPG00010015182
 protein coding gene Chr8:21865614-21897284 (-)
WSB/EiJ ENSIUOG00005010530
 protein coding gene Chr8:22280871-22312636 (-)



Homology
more
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
  • Synonyms
    HGNAT, MPS3C, RP73, TMEM76
  • Links
    NCBI Gene ID: 138050
    UniProt: Q68CP4

  • Chr Location
    8p11.21-p11.1; chr8:43140376-43202855 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hgsnat mouse models; 2 with human HGSNAT associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    94 phenotypes from 5 alleles in 5 genetic backgrounds
    25 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 a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    9
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
    646
  • Tissues
    33
  • cDNA Data
    79
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037260 Ensembl Gene Model | MGI Sequence Detail 32301 C57BL/6J ±  kb
    transcript ENSMUST00000037609 Ensembl | MGI Sequence Detail 2694 Not Applicable  
    polypeptide ENSMUSP00000040356 Ensembl | MGI Sequence Detail 624 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000008537 heparan-alpha-glucosaminide N-acetyltransferase
      (term hierarchy)
    • EC
      2.3.1.78
    • InterPro Domains
      IPR012429 Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain
    • GlyGen
      Q3UDW8 3 sites, 4 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 82
      cDNA 79
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1924492, MGI:2142772
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 3
      Diseases 4
      Gene Ontology 9
      Phenotypes 25
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:387988 Viana GM, et al., Cathepsin B inhibition blocks amyloidogenesis in the mouse models of neurological lysosomal diseases MPS IIIC and sialidosis. Mol Ther Methods Clin Dev. 2025 Mar 13;33(1):101432
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory