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Aliases for GNS Gene

Aliases for GNS Gene

  • Glucosamine (N-Acetyl)-6-Sulfatase 2 3 5
  • N-Acetylglucosamine-6-Sulfatase 2 3
  • EC 3.1.6.14 4 56
  • G6S 3 4
  • Glucosamine -6-Sulfatase 3
  • Sanfilippo Disease IIID 2
  • Glucosamine-6-Sulfatase 4
  • EC 3.1.6 56

External Ids for GNS Gene

Previous GeneCards Identifiers for GNS Gene

  • GC12M064570
  • GC12M065075
  • GC12M064823
  • GC12M063396
  • GC12M063393
  • GC12M065107
  • GC12M062157

Summaries for GNS Gene

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 Iii. Among its related pathways are Clathrin derived vesicle budding and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and N-acetylglucosamine-6-sulfatase activity. An important paralog of this gene is SULF2.

Additional gene information for GNS Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNS Gene

Genomics for GNS Gene

GeneHancer (GH) Regulatory Elements for GNS Gene

Promoters and enhancers for GNS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I064756 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 573.4 +1.0 1023 4.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 GNS ENSG00000215159 LEMD3 TBK1 LOC100420899 ENSG00000250280 PIR33058 GC12P064723 GC12P064711
GH12I064760 Enhancer 0.2 ENCODE 550.8 -1.5 -1539 0 ENSG00000215159 GNS GC12P064764 GC12P064723 GC12P064711
GH12I064778 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 20.1 -21.3 -21296 4.7 SIN3A ZNF2 GLIS2 RUNX3 ZNF202 SP3 SMARCB1 SMARCA4 ZNF585B GLIS1 TBC1D30 TBK1 GNS PABPC1P4 LEMD3 LOC100420899 RASSF3 GC12P064764 ENSG00000215159 GC12P064723
GH12I064713 Enhancer 0.9 Ensembl ENCODE dbSUPER 36.9 +43.4 43434 4.8 PKNOX1 ZNF189 CREB1 JUNB ATF7 ATF2 PIR39333 PIR57161 GNS ENSG00000215159 LOC105369804 RASSF3 GC12P064711
GH12I064729 Enhancer 1.1 Ensembl ENCODE dbSUPER 24.8 +28.7 28726 2.6 MEIS2 ZNF362 ZNF133 CEBPB CEBPG DPF2 FOSL1 GATA3 JUND POLR2A GNS LOC105369804 RASSF3 PIR33058 GC12P064723 GC12P064711
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNS gene promoter:

Genomic Locations for GNS Gene

Genomic Locations for GNS Gene
chr12:64,713,442-64,759,447
(GRCh38/hg38)
Size:
46,006 bases
Orientation:
Minus strand
chr12:65,107,222-65,153,227
(GRCh37/hg19)

Genomic View for GNS Gene

Genes around GNS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNS Gene

Proteins for GNS Gene

  • Protein details for GNS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15586-GNS_HUMAN
    Recommended name:
    N-acetylglucosamine-6-sulfatase
    Protein Accession:
    P15586
    Secondary Accessions:
    • B4DYH8
    • Q53F05

    Protein attributes for GNS Gene

    Size:
    552 amino acids
    Molecular mass:
    62082 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GNS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNS Gene

Selected DME Specific Peptides for GNS Gene

P15586:
  • NTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKVPLLVRGP
  • RWQTLLSVDDLVEKLVKRL
  • GKYLNEY
  • APRNKNFNIHGTNKHWLIRQAKTPMTNSSI
  • WQKIQEP
  • EPFFMMI
  • NLTWRSDVLVEYQGEGRNVTDPTCPSLSPGVSQCFPDCVC
  • SRASILTG
  • NSKYYNY
  • LGGMTPLKKTKALIGE
  • NIDLGPTILD

Post-translational modifications for GNS Gene

  • 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.
  • 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 species.
  • Ubiquitination at posLast=125125
  • Glycosylation at posLast=111111, posLast=117117, isoforms=2183, isoforms=2198, posLast=210210, isoforms=2279, isoforms=2317, isoforms=2362, posLast=387387, posLast=405405, isoforms=2422, isoforms=2449, and isoforms=2480

Other Protein References for GNS Gene

Domains & Families for GNS Gene

Gene Families for GNS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P15586

UniProtKB/Swiss-Prot:

GNS_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with GNS: view

Function for GNS Gene

Molecular function for GNS Gene

GENATLAS Biochemistry:
N-acetyl-glucosamine-6-sulfate sulfatase,lysosomal,acting an heparan sulfate,catalyzing the third step of degradation of glycosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.

Enzyme Numbers (IUBMB) for GNS Gene

Phenotypes From GWAS Catalog for GNS Gene

Gene Ontology (GO) - Molecular Function for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0008449 N-acetylglucosamine-6-sulfatase activity IEA,TAS --
GO:0008484 sulfuric ester hydrolase activity IDA,IEA 15962010
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GNS: view
genes like me logo Genes that share phenotypes with GNS: view

Human Phenotype Ontology for GNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNS Gene

MGI Knock Outs for GNS:
  • Gns tm1e(EUCOMM)Hmgu

Animal Model Products

CRISPR Products

miRNA for GNS Gene

miRTarBase miRNAs that target GNS

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GNS Gene

Localization for GNS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNS Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNS gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with GNS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNS Gene

Pathways & Interactions for GNS Gene

genes like me logo Genes that share pathways with GNS: view

Gene Ontology (GO) - Biological Process for GNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process TAS 3689315
GO:0008152 metabolic process IEA --
GO:0030203 glycosaminoglycan metabolic process IEA --
GO:0042340 keratan sulfate catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GNS: view

No data available for SIGNOR curated interactions for GNS Gene

Drugs & Compounds for GNS Gene

(3) Drugs for GNS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Approved Nutra 0

(4) Additional Compounds for GNS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
69992-87-6
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
genes like me logo Genes that share compounds with GNS: view

Transcripts for GNS Gene

Unigene Clusters for GNS Gene

Glucosamine (N-acetyl)-6-sulfatase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNS Gene

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: - -
SP6:

Relevant External Links for GNS Gene

GeneLoc Exon Structure for
GNS
ECgene alternative splicing isoforms for
GNS

Expression for GNS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNS Gene

This gene is overexpressed in Adrenal Gland (x5.5) and Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for GNS Gene

This gene is overexpressed in Amniocyte (18.0) and Urine (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNS Gene



Protein tissue co-expression partners for GNS Gene

NURSA nuclear receptor signaling pathways regulating expression of GNS Gene:

GNS

SOURCE GeneReport for Unigene cluster for GNS Gene:

Hs.334534

Evidence on tissue expression from TISSUES for GNS Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Heart(4.3)
  • Kidney(2.8)
  • Adrenal gland(2.6)
  • Blood(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GNS: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GNS Gene

Orthologs for GNS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNS 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia GNS 33 34
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia GNS 33 34
  • 90.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNS 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gns 33
  • 86.19 (n)
mouse
(Mus musculus)
Mammalia Gns 33 16 34
  • 83.46 (n)
chicken
(Gallus gallus)
Aves GNS 33 34
  • 78.04 (n)
lizard
(Anolis carolinensis)
Reptilia GNS 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gns 33
  • 72.43 (n)
Str.8976 33
African clawed frog
(Xenopus laevis)
Amphibia gns-prov 33
zebrafish
(Danio rerio)
Actinopterygii gnsa 33 34
  • 69.74 (n)
wufi20h10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004721 33
  • 51.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18278 35 33 34
  • 50.64 (n)
CG30059 34
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06041 33
  • 41.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14329 33
Species where no ortholog for GNS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNS Gene

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

Paralogs for GNS Gene

Paralogs for GNS Gene

(4) SIMAP similar genes for GNS Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GNS: view

Variants for GNS Gene

Sequence variations from dbSNP and Humsavar for GNS Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1040226888 uncertain-significance, Sanfilippo syndrome 64,716,065(-) T/C 3_prime_UTR_variant
rs1061743 benign, Sanfilippo syndrome 64,714,380(-) G/C 3_prime_UTR_variant
rs11175525 likely-benign, Sanfilippo syndrome 64,716,330(-) C/T 3_prime_UTR_variant
rs1147096 benign, not specified, Sanfilippo syndrome 64,752,752(-) C/A/T coding_sequence_variant, synonymous_variant
rs115625510 uncertain-significance, Sanfilippo syndrome 64,715,513(-) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for GNS Gene

Variant ID Type Subtype PubMed ID
dgv2682n54 CNV gain 21841781
dgv823n106 CNV deletion 24896259
esv2089729 CNV deletion 18987734
esv2494968 CNV deletion 19546169
esv2586961 CNV deletion 19546169
esv2745992 CNV deletion 23290073
esv2745993 CNV deletion 23290073
esv2939 CNV loss 18987735
esv3549318 CNV deletion 23714750
nsv1070114 CNV deletion 25765185
nsv832444 CNV loss 17160897
nsv958674 CNV deletion 24416366

Variation tolerance for GNS Gene

Residual Variation Intolerance Score: 8.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNS Gene

Human Gene Mutation Database (HGMD)
GNS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNS Gene

Disorders for GNS Gene

MalaCards: The human disease database

(4) MalaCards diseases for GNS Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GNS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNS_HUMAN
  • 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. {ECO:0000269 PubMed:12573255, ECO:0000269 PubMed:20232353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with GNS: view

No data available for Genatlas for GNS Gene

Publications for GNS Gene

  1. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. (PMID: 20232353) Valstar MJ … van Diggelen OP (Human mutation 2010) 3 4 22 58
  2. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. (PMID: 12573255) Mok A … Hegele RA (Genomics 2003) 3 4 22 58
  3. A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. (PMID: 19650410) Elçioglu NH … Wollnik B (Genetic counseling (Geneva, Switzerland) 2009) 3 22 58
  4. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. (PMID: 17998446) Jansen AC … Andermann E (Archives of neurology 2007) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GNS Gene

Sources for GNS Gene

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