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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GNS Gene

protein-coding GIFtS: 66
GCID: GC12M065107

glucosamine (N-acetyl)-6-sulfatase

Explore 8 diseases affiliated with
GNS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glucosamine (N-Acetyl)-6-Sulfatase¹ ²		Glucosamine-6-Sulfatase¹
G6S² ³ ⁵		Glucosamine-6-Sulfatase¹
EC 3.1.6.14³ ⁸		EC 3.1.6⁸
N-Acetylglucosamine-6-Sulfatase¹

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNS:

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences 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 plasmid: GNS promoter sequence

Search SABiosciences Chromatin IP Primers for GNS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)

Subcellular location: Lysosome

Secondary accessions: Q53F05

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15586

4/11 DME Specific Peptides for GNS (P15586) (see all 11)

WQKIQEP

GKYLNEY

NSKYYNY

EPFFMMI

GNS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002067.1

ENSEMBL proteins:

ENSP00000413130 ENSP00000258145 ENSP00000438497 ENSP00000444819 ENSP00000437782

ENSP00000439501 ENSP00000445055

Reactome Protein details: P15586
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for GNS (Glucosamine (N-acetyl)-6-Sulfatase/GNS)
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	OriGene Purified Protein: GNS OriGene Protein Over-expression Lysate: GNS OriGene Custom Protein Services for GNS
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	Novus Biologicals GNS Proteins Novus Biologicals GNS Lysates
	Sino Biological Recombinant Protein for GNS
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for GNS

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	--	--
GO:0043202	lysosomal lumen	TAS	--

GNS for ontologies About GeneDecksing

GNS Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for GNS (Glucosamine (N-acetyl)-6-Sulfatase/GNS)
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	Novus Biologicals GNS Antibodies
	Abcam antibodies for GNS
	Uscn Antibodies for GNS
	ThermoFisher Antibodies for GNS

Assay Products for GNS:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GNS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GNS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GNS for domains About GeneDecksing

5/6 InterPro domains/families (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 family: IPB000917 Sulfatase

UniProtKB/Swiss-Prot: GNS_HUMAN, P15586

Similarity: Belongs to the sulfatase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

miRNA Products:		OriGene 3'-UTR Clone: GNS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNS
		8/90 QIAGEN miScript miRNA 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 plasmid: GNS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNS (see all 6) OriGene shRNA RFP: GNS Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GNS

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GNS (NM_002076)
		Sino Biological Human cDNA Clone for GNS
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GNS
		Search LifeMap BioReagents cell lines for GNS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNS

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17474147
GO:0005539	glycosaminoglycan binding	--	--
GO:0008449	N-acetylglucosamine-6-sulfatase activity	IEA	--
GO:0008484	sulfuric ester hydrolase activity	IDA	15962010
GO:0043199	sulfate binding	--	--

GNS for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for GNS:

Synthetic lethal with Ras

Synthetic lethal with c-Myc af

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS VII - Sly syndrome	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Lysosome Vesicle Biogenesis	0.39
	trans-Golgi Network Vesicle Budding	1.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Disease

Disease

1.00

Membrane Trafficking

Membrane Trafficking

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/22 Reactome Pathways for GNS (see all 22)

	Membrane Trafficking
	Clathrin derived vesicle budding
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease

3 Kegg Pathways (Kegg details for GNS):

	Glycosaminoglycan degradation
	Metabolic pathways
	Lysosome

GNS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GNS

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for GNS (P15586^{1, 3} ENSP00000258145⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCK1	P16333¹^,³, ENSP00000288986⁴	EBI-1752200,EBI-3448658 I2D: score=1 STRING: ENSP00000288986
ABL1	P00519³, ENSP00000361423⁴	I2D: score=1 STRING: ENSP00000361423
FYN	P06241³, ENSP00000357656⁴	I2D: score=1 STRING: ENSP00000357656
SRC	P12931³, ENSP00000350941⁴	I2D: score=1 STRING: ENSP00000350941
GRB2	P62993³, ENSP00000339007⁴	I2D: score=1 STRING: ENSP00000339007

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006027	glycosaminoglycan catabolic process	TAS	3689315
GO:0030203	glycosaminoglycan metabolic process	TAS	--
GO:0042339	keratan sulfate metabolic process	TAS	--
GO:0042340	keratan sulfate catabolic process	TAS	--

GNS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GNS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GNS

4 HMDB Compounds for GNS About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Keratan	Kerato sulfate (see all 4)	69992-87-6	--
Sulfate	Sulfate (ion 2-) (see all 9)	14808-79-8	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about GNS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

10 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 ENST00000545471 ENST00000545273

miRNA Products:		OriGene 3'-UTR Clone: GNS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNS
		8/90 QIAGEN miScript miRNA 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 plasmid: GNS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNS (see all 6) OriGene shRNA RFP: GNS Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GNS

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GNS (NM_002076)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GNS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNS

Additional cDNA 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

24/374 AceView cDNA sequences (see all 374):

BU948203 BX117667 CA395868 AI358910 CK000955 Z40162 BQ004506 N55295

AU133077 BM992202 T31554 BU149899 BQ188329 W56627 CK000462 AW008419

BU620024 AI869762 CA427061 AI432031 CA417231 BG117145 AI912534 BU619065

GeneLoc Exon Structure

5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GNS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGTTTTAC

About this image

GNS expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Floor Plate

Floor Plate Cells

Neural Ectoderm

Brain

Neural Tube

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GNS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNS

SOURCE GeneReport for Unigene cluster: Hs.334534

SABiosciences Custom PCR Arrays for GNS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GNS
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNS

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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for GNS gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GNS¹	glucosamine (N-acetyl)-6-sulfatase	77.44(n) 85.09(a)		417829 NM_001199559.1 NP_001186488.1
lizard (Anolis carolinensis)	Reptilia	GNS⁶	--	80(a)	1 ↔ 1	5(50340629-50364602)
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	CG18278^{1 , 3}	CG18278¹	45(a)³ 51.05(n)¹ 47.9(a)¹		50A5³ 36487¹ NM_165983.1¹ NP_725289.1¹
E. coli (Escherichia coli)	Gamma proteobacteria	yidJ⁶	predicted sulfatase/phosphatase	16(a)	possible ortholog	Chromosome(3854934-3856427)

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)
About This Section

Paralogs for GNS gene

SULF1² SULF2² ARSK²

4 SIMAP similar genes for GNS using alignment to 7 protein entries: GNS_HUMAN (see all proteins):

DKFZp686E12166 SULF1 DKFZp686F13142 SULF2

GNS for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74098127^1,2	C,F,	--	65106729(+)	`ATGACC/TTACTT`	1	--	ds500¹		3		WA CSA	122
rs141060671^1,2		--	65106756(+)	`TTGTAC/TTGGAA`	1	--	ds500¹		0	--	--	--	--
rs150248576^1,2		--	65106774(+)	`ACACAC/GTTATC`	1	--	ds500¹		0	--	--	--	--
rs114872168^1,2	F,	--	65106785(+)	`CATTTT/CCTATG`	1	--	ds500¹		1		WA	118
rs60354095^1,2	C,F,	--	65106898(+)	`ACCCCG/ATAAGA`	1	--	ds500¹		1		WA	118
rs193105213^1,2		--	65106955(+)	`GAAGGC/TGAGCC`	1	--	ds500¹		0	--	--	--	--
rs185140199^1,2		--	65107016(+)	`ATACAC/TACAGA`	1	--	ds500¹		0	--	--	--	--
rs189017998^1,2		--	65107052(+)	`GTGCTC/TCATTC`	1	--	ds500¹		0	--	--	--	--
rs191588914^1,2		--	65107061(+)	`TCAGGG/TGTTAT`	1	--	ds500¹		0	--	--	--	--
rs1244874^1,2	C,F,O,A,H,	--	65107135(-)	`GTACTA/GGAAAT`	1	--	ds500¹		25		NS EA NA WA	2492

HapMap Linkage Disequilibrium report for GNS (65107222 - 65153227 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for GNS
5 Indels: 39910 45069 39909 101544 41490
Human Gene Mutation Database (HGMD): GNS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

GNS for disorders           About GeneDecksing

OMIM gene information: 607664
OMIM disorders: 252940
UniProtKB/Swiss-Prot: GNS_HUMAN, P15586

Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]; also known as Sanfilippo D

syndrome. MPS3D is 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

8 diseases for GNS: About MalaCards

mucopolysaccharidosis type iiid mucopolysaccharidosis glossopharyngeal neuralgia lysosomal storage disease

ganglioneuroma rheumatoid arthritis arthritis influenza

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

Ganglioneuroma Mucopolysaccharidosis Glomerulonephritis

3 Novoseek 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)
About This Section

PubMed articles for GNS gene, integrated from 9 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

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. (2003)
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. (PubMed id 20232353)^{1, 2, 9} Valstar M.J....van Diggelen O.P. (2010)
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. (2004)
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. (2003)
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. (1992)
Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. (PubMed id 3196333)^{1, 2} Robertson D.A.... Hopwood J.J. (1988)
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. (2007)
A novel loss-of-function mutation in the GNS gene cau ses Sanfilippo syndrome type D. (PubMed id 19650410)^{1, 9} ElAsioglu N.H....Wollnik B. (2009)
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. (1991)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 2799	HGNC: 4422	AceView: GNS	Ensembl:ENSG00000135677	euGenes: HUgn2799
ECgene: GNS	Kegg: 2799	H-InvDB: GNS

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for GNS	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GNS	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNS

Intellectual Property for GNS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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