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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
GNS-related disorder Likely pathogenic rs2539505307 RCV003983402
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (58 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sanfilippo syndrome Likely pathogenic rs2136247666, rs750645480 RCV001831337
RCV001274493
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 37925455 Associate
★☆☆☆☆
Found in Text Mining only
Asymmetric Septal Hypertrophy Septal Hypertrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 30856613
★☆☆☆☆
Found in Text Mining only
Deglutition Disorders Dysphagia HPO_DG
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria HPO_DG
★☆☆☆☆
Found in Text Mining only
Dyssomnias Dyssomnia HPO_DG
★☆☆☆☆
Found in Text Mining only
Frontal bossing Frontal bossing HPO_DG
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation HPO_DG
★☆☆☆☆
Found in Text Mining only
Low Tension Glaucoma Low Tension Glaucoma BEFREE 23421332
★☆☆☆☆
Found in Text Mining only
Macrostomia Macrostomia HPO_DG
★☆☆☆☆
Found in Text Mining only