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

2003-05-01  

Identity

HGNC
LOCATION
12q14.3
LOCUSID
ALIAS
G6S
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
202323532010Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.7
179984462007Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.6
283347452017Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.6
126241382003Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.5
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).3
196504102009A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.1

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40733/gns-(glucosamine-(n-acetyl)-6-sulfatase)