Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2799
Gene name Gene Name - the full gene name approved by the HGNC.
Glucosamine (N-acetyl)-6-sulfatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNS
Synonyms (NCBI Gene) Gene synonyms aliases
G6S
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs119461974 G>A Pathogenic Coding sequence variant, stop gained
rs119461975 G>A Pathogenic Coding sequence variant, stop gained
rs138790252 G>A,C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs483352898 T>- Pathogenic Frameshift variant, coding sequence variant
rs483352899 ->AGGAC Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018960 hsa-miR-335-5p Microarray 18185580
MIRT027186 hsa-miR-103a-3p Sequencing 20371350
MIRT048309 hsa-miR-107 CLASH 23622248
MIRT046266 hsa-miR-23b-3p CLASH 23622248
MIRT042074 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147
GO:0005539 Function Glycosaminoglycan binding IBA 21873635
GO:0005576 Component Extracellular region TAS
GO:0006027 Process Glycosaminoglycan catabolic process TAS 3689315
GO:0008449 Function N-acetylglucosamine-6-sulfatase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607664 4422 ENSG00000135677
Protein
UniProt ID P15586
Protein name N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) (Glucosamine-6-sulfatase) (G6S)
Protein function Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 47 384 Sulfatase Family
Sequence
Sequence length 552
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan degradation
Metabolic pathways
Lysosome
  Keratan sulfate degradation
MPS IIID - Sanfilippo syndrome D
Lysosome Vesicle Biogenesis
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Mucopolysaccharidosis Mucopolysaccharidosis III, Mucopolysaccharidosis Type IIIA, MPS III B, MPS III C, MPS III D rs118204435, rs118204437, rs118204438, rs118204439, rs118204441, rs118204442, rs118204448, rs118204443, rs118204444, rs118204449, rs118204446, rs118204447, rs118203939, rs118203941, rs431905493
View all (577 more)
27604308, 3391615, 12624138, 12573255, 17998446, 20232353
Sanfilippo syndrome Sanfilippo syndrome type D rs193066451, rs121908282, rs483352896, rs104894635, rs104894637, rs138504221, rs104894598, rs483352908, rs398124544, rs778700037, rs370717845, rs753355844, rs777956287, rs374621913, rs1085307880
View all (7 more)
Septal hypertrophy Asymmetric Septal Hypertrophy rs193922390, rs397516068
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 37925455
HIV Infections Associate 25344230
Low Tension Glaucoma Associate 23421332
Mucopolysaccharidosis I Associate 26355662
Mucopolysaccharidosis III Associate 27512882, 37487748
Pulmonary Disease Chronic Obstructive Associate 30760748
Retinal Dystrophies Associate 26355662
Retinitis Pigmentosa Associate 37487748
Severe Acute Respiratory Syndrome Associate 25344230