GNS (glucosamine (N-acetyl)-6-sulfatase)

2003-05-01  

Identity

HGNC
GNS
LOCATION
12q14.3
LOCUSID
2799
ALIAS
G6S
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2799
MIM: 607664
HGNC: 4422
Ensembl: ENSG00000135677

Variants:

dbSNP: 2799
ClinVar: 2799
TCGA: ENSG00000135677
COSMIC: GNS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135677ENST00000258145P15586
ENSG00000135677ENST00000258145A0A024RBC5
ENSG00000135677ENST00000418919H7C3P4
ENSG00000135677ENST00000540196H0YFA9
ENSG00000135677ENST00000542058P15586
ENSG00000135677ENST00000543646F6S8M0
ENSG00000135677ENST00000545273F5H4C6

Expression (GTEx)

0
50
100
150
200
250
300
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
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Heparan sulfate degradationKEGGhsa_M00078
Keratan sulfate degradationKEGGhsa_M00079
Keratan sulfate degradationKEGGM00079
Heparan sulfate degradationKEGGM00078
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate degradationREACTOMER-HSA-2022857
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
283347452017Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.23
283347452017Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.23
202323532010Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.17
202323532010Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.17
196504102009A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.3
196504102009A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.3
169900432007Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).6
179984462007Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.17
169900432007Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).6
179984462007Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.17
126241382003Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.9
126241382003Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.9

Citation

Dessen P

GNS (glucosamine (N-acetyl)-6-sulfatase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40733/img/favicon/css/js/lib/zoomerang.js