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Gusb Gene Detail
Summary
  • Symbol
    Gusb
  • Name
    glucuronidase, beta
  • Synonyms
    adipose storage deficiency, asd, g, Gur, Gus, Gus-r, Gus-s, Gus-t, Gus-u, Gut
  • Feature Type
    protein coding gene
  • IDs
    MGI:95872
    NCBI Gene: 110006
  • Gene Overview
    MyGene.info: GUSB
Location & Maps
more
  • Sequence Map
    Chr5:129989011-130003049 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14039 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 68.32 cM
  • Mapping Data
    109 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    GUSB, glucuronidase beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GUSB, glucuronidase beta
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BG, MPS7
  • Links
    NCBI Gene ID: 2990
    neXtProt AC: NX_P08236

  • Chr Location
    7q21.11; chr7:65960684-65982314 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gusb mouse models; 1 with human GUSB associations

Human Disease Mouse Models
       Mucopolysaccharidosis, Type VII; MPS7   OMIM: 253220 View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 7 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    67 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
    15
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    6
  • Transgenic
    2
  • Genomic Mutations
    2 involving Gusb
  • Incidental Mutations
Knock-in mutations of this gene lead to lysosomal storage disease and may cause premature death, facial, tail and limb anomalies, growth retardation, male sterility, reduced lactation, osteosclerosis and behavioral defects. Additional phenotypes include partial neonatal death and deafness.
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 OTTMUSG00000024068 VEGA Gene Model | MGI Sequence Detail 14039 C57BL/6J ±  kb
transcript OTTMUST00000058837 VEGA | MGI Sequence Detail 2687 Not Applicable  
polypeptide OTTMUSP00000028562 VEGA | MGI Sequence Detail 648 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    136 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000008358 beta-glucuronidase
  • EC
  • InterPro Domains
    IPR008979 Galactose-binding domain-like
    IPR013781 Glycoside hydrolase, catalytic domain
    IPR006101 Glycoside hydrolase, family 2
    IPR013812 Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain
    IPR023232 Glycoside hydrolase, family 2, active site
    IPR006103 Glycoside hydrolase family 2, catalytic domain
    IPR023230 Glycoside hydrolase, family 2, conserved site
    IPR006102 Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich
    IPR017853 Glycoside hydrolase superfamily
    IPR006104 Glycosyl hydrolases family 2, sugar binding domain
Molecular
Reagents
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  • All nucleic 146
    Genomic 21
    cDNA 122
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10333, MGD-MRK-10334, MGD-MRK-10335, MGD-MRK-10336, MGD-MRK-10337, MGD-MRK-1413, MGD-MRK-19421, MGD-MRK-19422, MGD-MRK-9912, MGI:2140959, MGI:95873, MGI:95874, MGI:95875, MGI:95876
References
more
  • Summaries
    All 213
    Developmental Gene Expression 6
    Diseases 10
    Gene Ontology 9
    Phenotypes 67
  • Earliest
    J:286 PAIGEN K, The genetic control of enzyme activity during differentiation. Proc Natl Acad Sci U S A. 1961 Oct 15;47:1641-9
  • Latest
    J:232108 Parente MK, et al., Integrated analysis of proteome and transcriptome changes in the mucopolysaccharidosis type VII mouse hippocampus. Mol Genet Metab. 2016 May;118(1):41-54

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory