GUSB (glucuronidase beta)

2007-02-01  

Identity

HGNC
GUSB
LOCATION
7q11.21
LOCUSID
2990
ALIAS
BG,MPS7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2990
MIM: 611499
HGNC: 4696
Ensembl: ENSG00000169919

Variants:

dbSNP: 2990
ClinVar: 2990
TCGA: ENSG00000169919
COSMIC: GUSB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169919ENST00000304895P08236
ENSG00000169919ENST00000421103P08236
ENSG00000169919ENST00000430730F8WBK6
ENSG00000169919ENST00000446111F2Z3L6
ENSG00000169919ENST00000447929F2Z3L6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Glycosaminoglycan degradationKEGGko00531
Porphyrin and chlorophyll metabolismKEGGko00860
Drug metabolism - other enzymesKEGGko00983
Pentose and glucuronate interconversionsKEGGhsa00040
Glycosaminoglycan degradationKEGGhsa00531
Porphyrin and chlorophyll metabolismKEGGhsa00860
Drug metabolism - other enzymesKEGGhsa00983
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Dermatan sulfate degradationKEGGhsa_M00076
Chondroitin sulfate degradationKEGGhsa_M00077
Heparan sulfate degradationKEGGhsa_M00078
Glucuronate pathway (uronate pathway)KEGGM00014
Dermatan sulfate degradationKEGGM00076
Chondroitin sulfate degradationKEGGM00077
Heparan sulfate degradationKEGGM00078
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Hyaluronan metabolismREACTOMER-HSA-2142845
Hyaluronan uptake and degradationREACTOMER-HSA-2160916
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153142202004Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier.68
192245842009Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).29
127169372003Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice.23
264158782016Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.14
243431032014Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain.10
129054692003Synovial fluid exoglycosidases are predictors of rheumatoid arthritis and are effective in cartilage glycosaminoglycan depletion.8
210736512011Expression of common housekeeping genes is affected by disease in human hepatitis C virus-infected liver.8
146122922002Clinical significance of TGF- beta1 and beta-glucuronidase synchronous detection in human pancreatic cancer.6
162729592005Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.5
273871422016β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.5

Citation

Dessen P

GUSB (glucuronidase beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46031/gusb