Gene Gene information from NCBI Gene database.
Entrez ID 2799
Gene name Glucosamine (N-acetyl)-6-sulfatase
Gene symbol GNS
Synonyms (NCBI Gene)
G6S
Chromosome 12
Chromosome location 12q14.3
Summary 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.
7
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.
1398
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147
GO:0005539 Function Glycosaminoglycan binding IBA
GO:0005539 Function Glycosaminoglycan binding IEA
GO:0005576 Component Extracellular region TAS
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607664 4422 ENSG00000135677
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
781
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GNS-related disorder Likely pathogenic rs2539505307 RCV003983402
Mucopolysaccharidosis, MPS-III-D Likely pathogenic; Pathogenic rs2136247666, rs2136237257, rs2136245530, rs2136247658, rs2136248422, rs2136248862, rs749187018, rs1219484230, rs2136249835, rs2136247574, rs2136236619, rs2136259586, rs2136237909, rs2136253236, rs759378094
View all (47 more)
RCV001377259
RCV001389276
RCV001389188
RCV001389572
RCV001386378
RCV001385030
RCV001381252
RCV002538693
RCV001783392
RCV003228221
RCV001907215
RCV001928378
RCV001920796
RCV001995062
RCV001946742
RCV001954510
RCV001958888
RCV001909853
RCV001976621
RCV001994773
RCV001994813
RCV001994681
RCV001866545
RCV001939779
RCV001878553
RCV001951379
RCV001891285
RCV001963675
RCV002302492
RCV000003066
RCV000003067
RCV000003068
RCV000003069
RCV000003070
RCV003062525
RCV003062526
RCV002657972
RCV002720906
RCV002765456
RCV002819566
RCV002861966
RCV002898779
RCV002885194
RCV003019425
RCV003059756
RCV003236507
RCV003486318
RCV003500943
RCV003501220
RCV003501323
RCV003501826
RCV003501719
RCV003501720
RCV003500213
RCV003606017
RCV003606207
RCV003606377
RCV003606378
RCV003605161
RCV003865612
RCV000790560
RCV001044602
RCV001234385
Sanfilippo syndrome Likely pathogenic rs2136247666, rs750645480 RCV001831337
RCV001274493
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs17100600 RCV005893145
Malignant lymphoma, large B-cell, diffuse Benign rs1147095 RCV005916552
Melanoma Uncertain significance rs1367360082 RCV005930782
Nonpapillary renal cell carcinoma Uncertain significance; Benign; Likely benign rs1367360082, rs201654719 RCV005930781
RCV005870676
Associations from Text MiningDisease associations identified through Pubtator
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