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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
  • Gene Overview
    MyGene.info: HGSNAT
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:25944453-25976753 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32301 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 14.22 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HGNAT, MPS3C, RP73, TMEM76
  • Links
    NCBI Gene ID: 138050
    neXtProt AC: NX_Q68CP4
    UniProt: Q68CP4

  • Chr Location
    8p11.21-p11.1; chr8:43140449-43202827 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Hgsnat mouse models; 2 with human HGSNAT associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 1 allele in 1 genetic background
    8 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
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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 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000060876 VEGA Gene Model | MGI Sequence Detail 32301 C57BL/6J ±  kb
    transcript OTTMUST00000148776 VEGA | MGI Sequence Detail 2694 Not Applicable  
    polypeptide OTTMUSP00000077289 VEGA | MGI Sequence Detail 656 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      281 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 79
      cDNA 78
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1924492, MGI:2142772
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 4
      Phenotypes 8
    • 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:235361 Marco S, et al., Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Dis Model Mech. 2016 Sep 1;9(9):999-1013

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory