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GNS Gene

protein-coding   GIFtS: 67
GCID: GC12M065107

Glucosamine (N-Acetyl)-6-Sulfatase

  See GNS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucosamine (N-Acetyl)-6-Sulfatase1 2     Sanfilippo Disease IIID1
G6S2 3 5     glucosamine-6-sulfatase2
N-acetylglucosamine-6-sulfatase1 2     Glucosamine-6-sulfatase3
EC 3.1.6.143 8     EC 3.1.68

External Ids:    HGNC: 44221   Entrez Gene: 27992   Ensembl: ENSG000001356777   OMIM: 6076645   UniProtKB: P155863   

Export aliases for GNS gene to outside databases

Previous GC identifers: GC12M064570 GC12M065075 GC12M064823 GC12M063396 GC12M063393 GC12M062157


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNS 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 disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome).
Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. (provided by
RefSeq, Jul 2008)

GeneCards Summary for GNS Gene:
GNS (glucosamine (N-acetyl)-6-sulfatase) is a protein-coding gene. Diseases associated with GNS include mucopolysaccharidosis type iiid, and mucopolysaccharidosis. GO annotations related to this gene include sulfuric ester hydrolase activity and N-acetylglucosamine-6-sulfatase activity. An important paralog of this gene is SULF1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNS gene promoter:
         Sox5   Sp1   Zic1   Pax-2   FOXD1   Pax-2a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNS promoter sequence
   Search Chromatin IP Primers for GNS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14   Ensembl cytogenetic band:  12q14.3   HGNC cytogenetic band: 12q14

GNS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNS gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M065107:  view genomic region     (about GC identifiers)

Start:
65,107,222 bp from pter      End:
65,153,227 bp from pter
Size:
46,006 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GNS_HUMAN, P15586 (See protein sequence)
Recommended Name: N-acetylglucosamine-6-sulfatase precursor  
Size: 552 amino acids; 62082 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Secondary accessions: Q53F05

Explore the universe of human proteins at neXtProt for GNS: NX_P15586

Explore proteomics data for GNS at MOPED

Post-translational modifications: 

  • The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48
    kDa C-terminal species1
  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in
    prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity)1
  • Ubiquitination2 at Lys125
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GNS (P15586) (see all 11)
     WQKIQEP  GKYLNEY  NSKYYNY  EPFFMMI 


    See GNS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002067.1  
    ENSEMBL proteins: 
     ENSP00000413130   ENSP00000258145   ENSP00000438497   ENSP00000444819   ENSP00000437782  
     ENSP00000445055  
    Reactome Protein details: P15586

    GNS Human Recombinant Protein Products:

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    Novus Biologicals GNS Proteins
    Novus Biologicals GNS Lysates
    Sino Biological Recombinant Protein for GNS
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GNS

     
    Search eBioscience for Proteins for GNS 

     
    antibodies-online proteins for GNS (8 products) 

     
    antibodies-online peptides for GNS

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    antibodies-online antibodies for GNS (34 products) 

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    Cloud-Clone Corp. ELISAs for GNS
    Cloud-Clone Corp. CLIAs for GNS
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    antibodies-online kits for GNS (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR012251 GlcNAc_6-SO4ase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     IPR015981 GlcNAc_6-SO4ase_euk
     IPR024607 Sulfatase_CS

    Graphical View of Domain Structure for InterPro Entry P15586

    ProtoNet protein and cluster: P15586

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: GNS_HUMAN, P15586
    Similarity: Belongs to the sulfatase family


    Find genes that share domains with GNS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNS_HUMAN, P15586
    Catalytic activity: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan
    sulfate and keratan sulfate

         Genatlas biochemistry entry for GNS:
    N-acetyl-glucosamine-6-sulfate sulfatase,lysosomal,acting an heparan sulfate,catalyzing the third step of
    degradation of glycosaminoglycans (mucopolysaccharides)

         Enzyme Numbers (IUBMB): EC 3.1.6.141 2 EC 3.1.62

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI17474147
    GO:0008449N-acetylglucosamine-6-sulfatase activity IEA--
    GO:0008484sulfuric ester hydrolase activity IDA15962010
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with GNS           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GNS:
     Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GNS

    miRNA
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    miRTarBase miRNAs that target GNS:
    hsa-mir-107 (MIRT048309), hsa-mir-23b-3p (MIRT046266), hsa-mir-335-5p (MIRT018960), hsa-mir-484 (MIRT042074), hsa-mir-103a-3p (MIRT027186)

    Block miRNA regulation of human, mouse, rat GNS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GNS (see all 90):
    hsa-miR-194* hsa-miR-3678-3p hsa-miR-607 hsa-miR-631 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidGNS 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GNS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GNS (NM_002076)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNS

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GNS_HUMAN, P15586: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    cytosol1
    extracellular1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0043202lysosomal lumen TAS--

    Find genes that share ontologies with GNS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GNS About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    Lysosome Vesicle Biogenesis0.41
    trans-Golgi Network Vesicle Budding0.89
    Membrane Trafficking0.32
    4Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate degradation0.00
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with GNS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for GNS
        Keratan sulfate degradation
    Lysosome Vesicle Biogenesis


    3 Kegg Pathways  (Kegg details for GNS):
        Glycosaminoglycan degradation
    Metabolic pathways
    Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNS
    Interactions:

        Search GeneGlobe Interaction Network for GNS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for GNS (P155861, 3 ENSP000002581454) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1752200,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    SRCP129313, ENSP000003509414I2D: score=1 STRING: ENSP00000350941
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS3689315
    GO:0008152metabolic process ----
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    Find genes that share ontologies with GNS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GNS

    4 HMDB Compounds for GNS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    KeratanKerato sulfate (see all 4)69992-87-6--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for GNS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 74.8 9 17998446 (1), 19650410 (1), 9600207 (1), 12573255 (1) (see all 5)
    n-acetylglucosamine 67.7 7 7605804 (3), 8155645 (1), 9329460 (1), 8508132 (1) (see all 5)
    steroid 7.37 2 11315200 (1), 2303452 (1)



    Find genes that share compounds with GNS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GNS gene: 
    NM_002076.3  

    Unigene Cluster for GNS:

    Glucosamine (N-acetyl)-6-sulfatase
    Hs.334534  [show with all ESTs]
    Unigene Representative Sequence: NM_002076
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418919(uc001ssf.3) ENST00000258145(uc001ssg.4 uc010ssq.2 uc010ssr.2)
    ENST00000543646 ENST00000542058 ENST00000541781 ENST00000537823 ENST00000540196
    ENST00000540883 ENST00000545273
    miRNA
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    Block miRNA regulation of human, mouse, rat GNS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GNS (see all 90):
    hsa-miR-194* hsa-miR-3678-3p hsa-miR-607 hsa-miR-631 hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidGNS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GNS
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      QuantiTect SYBR Green Assays in human, mouse, rat GNS
      QuantiFast Probe-based Assays in human, mouse, rat GNS

    Additional mRNA sequence: 

    AK054660.1 AK223484.1 AK291771.1 AK296759.1 AK300350.1 AK302443.1 AK304158.1 AK308094.1 
    AK308454.1 BC012482.1 BC017742.1 BC038967.1 BX537363.1 Z12173.1 

    15 DOTS entries:

    DT.110919  DT.100826734  DT.91683440  DT.101970251  DT.121159941  DT.100044684  DT.100879064  DT.75156904 
    DT.95139719  DT.100826731  DT.91894358  DT.95249346  DT.80100041  DT.91981391  DT.95139720 

    Selected AceView cDNA sequences (see all 374):

    BU166029 AU133077 CK000462 AI924212 CA428222 AA903771 CA447080 T31554 
    CA419492 AI961884 BX117667 CA427061 BU588741 CA395868 BC017742 AW008419 
    AA631011 AL543896 BC012482 AA083941 BQ015201 CD368163 BU069450 AI358910 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GNS (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b
    SP1:        -     -     -                                                           -                 -                                 
    SP2:                                                                                                                                    
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:              -     -                                                                                                               


    ECgene alternative splicing isoforms for GNS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGTTTTAC
    GNS Expression
    About this image


    GNS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Floor Plate Cells Spinal Floor Plate
             Metencephalon
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Bone (Muscoskeletal System)
             Zeugopod Long Bone
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Limb (Muscoskeletal System)
             Zeugopod
    GNS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334534
        Custom PCR Arrays for GNS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GNS gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gns1 , 5 glucosamine (N-acetyl)-6-sulfatase1, 5 83.46(n)1
    90.22(a)1
      10 (69.62 cM)5
    756121  NM_029364.31  NP_083640.11 
     1213650905 
    chicken
    (Gallus gallus)
    Aves GNS1 glucosamine (N-acetyl)-6-sulfatase 78.04(n)
    86.67(a)
      417829  NM_001199559.1  NP_001186488.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNS6
    glucosamine (N-acetyl)-6-sulfatase
    81(a)
    1 ↔ 1
    5(50340442-50364602)
    African clawed frog
    (Xenopus laevis)
    Amphibia gns-prov2 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease more 77.48(n)    BC042274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi20h102 wufi20h10 74.09(n)   327635  BC045323.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG182781 , 3 CG182781 45(a)3
    50.64(n)1
    47.44(a)1
      50A53
    364871  NM_165983.11  NP_725289.11 


    ENSEMBL Gene Tree for GNS (if available)
    TreeFam Gene Tree for GNS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNS gene
    SULF12  SULF22  
    4 SIMAP similar genes for GNS using alignment to 6 protein entries:     GNS_HUMAN (see all proteins):
    DKFZp686E12166    SULF1    DKFZp686F13142    SULF2

    Find genes that share paralogs with GNS           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNS (see all 947)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0640734
    Mucopolysaccharidosis 3D (MPS3D)4--see VAR_0640732 G E mis40--------
    VAR_0640724
    Mucopolysaccharidosis 3D (MPS3D)4--see VAR_0640722 K R mis40--------
    VAR_0640704
    Mucopolysaccharidosis 3D (MPS3D)4--see VAR_0640702 S I mis40--------
    rs740981271,2
    C,F--64943666(+) ATGACC/TTACTT 1 -- ds50013Minor allele frequency- T:0.21WA CSA 122
    rs1410606711,2
    C--64943693(+) TTGTAC/TTGGAA 1 -- ds50010--------
    rs1502485761,2
    --64943711(+) ACACAC/GTTATC 1 -- ds50010--------
    rs1148721681,2
    C,F--64943722(+) CATTTT/CCTATG 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs603540951,2
    C,F--64943835(+) ACCCCG/ATAAGA 1 -- ds50011Minor allele frequency- A:0.20WA 118
    rs1931052131,2
    --64943892(+) GAAGGC/TGAGCC 1 -- ds50010--------
    rs1851401991,2
    --64943953(+) ATACAC/TACAGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GNS (65107222 - 65153227 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GNS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745992CNV Deletion23290073
    esv2494968CNV Deletion19546169
    esv2939CNV Deletion18987735
    esv2586961CNV Deletion19546169
    esv2745993CNV Deletion23290073
    esv2089729CNV Deletion18987734
    nsv832444CNV Loss17160897
    dgv1443n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GNS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNS
    DNA2.0 Custom Variant and Variant Library Synthesis for GNS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607664   
    OMIM disorders: 252940  
    UniProtKB/Swiss-Prot: GNS_HUMAN, P15586
  • Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]: A form of mucopolysaccharidosis type 3, an autosomal
    recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by
    severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually
    occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of
    age, and death occurs typically during the second or third decade of life. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 2 diseases for GNS:    
    About MalaCards
    mucopolysaccharidosis type iiid    mucopolysaccharidosis

    3 diseases from the University of Copenhagen DISEASES database for GNS:
    Ganglioneuroma     Mucopolysaccharidosis     Glomerulonephritis

    Find genes that share disorders with GNS           About GenesLikeMe

    3 Novoseek inferred disease relationships for GNS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mps iiid 98.2 15 12573255 (4), 17998446 (1), 19650410 (1), 10344792 (1) (see all 6)
    sanfilippos syndrome 93.9 9 17998446 (2), 19650410 (2), 12573255 (1)
    mucopolysaccharidosis 81.7 1 7605804 (1)


    Export disorders for GNS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GNS gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with GNS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (PubMed id 12573255)1, 2, 9 Mok A.... Hegele R.A. (Genomics 2003)
    2. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. (PubMed id 20232353)1, 2, 9 Valstar M.J.... van Diggelen O.P. (Hum. Mutat. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (Nat. Biotechnol. 2003)
    5. A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. (PubMed id 1463457)1, 2 Robertson D.A.... Hopwood J.J. (Biochem. J. 1992)
    6. Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. (PubMed id 3196333)1, 2 Robertson D.A.... Hopwood J.J. (Biochem. Biophys. Res. Commun. 1988)
    7. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. (PubMed id 17998446)1, 9 Jansen A.C....Andermann E. (Arch. Neurol. 2007)
    8. A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. (PubMed id 19650410)1, 9 ElAsioglu N.H....Wollnik B. (Genet. Couns. 2009)
    9. Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PubMed id 1755850)1, 9 Tomatsu S.... Orii T. (Biochem. Biophys. Res. Commun. 1991)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2799 HGNC: 4422 AceView: GNS Ensembl:ENSG00000135677 euGenes: HUgn2799
    ECgene: GNS Kegg: 2799 H-InvDB: GNS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GNS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNS Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GNS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNS gene:
    Search GeneIP for patents involving GNS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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