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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 61
  • G6S 3 4
  • Glucosamine -6-Sulfatase 3
  • Sanfilippo Disease IIID 2
  • Glucosamine-6-Sulfatase 4
  • EC 3.1.6 61

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. Among its related pathways are Clathrin derived vesicle budding and Innate Immune System. 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.

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

Regulatory Elements for GNS Gene

Enhancers for GNS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G064713 1.1 Ensembl ENCODE dbSUPER 36.9 +43.4 43434 4.8 CTCF PKNOX1 JUNB ZNF623 CREM ATF2 GNS ENSG00000215159 LOC105369804 RASSF3 PIR57161 PIR39333
GH12G064729 1.3 Ensembl ENCODE dbSUPER 24.8 +28.7 28726 2.6 CTCF ZNF133 CEBPG ZNF384 RAD21 FOSL1 GATA3 POLR2A GATA2 SMC3 GNS LOC105369804 RASSF3 PIR33058 GC12P064723
GH12G064778 1.4 FANTOM5 ENCODE 20.1 -21.3 -21297 4.7 SIN3A ZNF2 GLIS2 GATA2 ZNF263 ZNF202 SP3 SMARCB1 ZNF579 CBX8 TBK1 GNS PABPC1P4 LEMD3 RASSF3 TBC1D30 GC12P064764
GH12G064756 1.1 ENCODE 23.3 +1.0 1024 4.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 GNS LEMD3 TBK1 ENSG00000250280 PIR33058
GH12G064632 1.5 Ensembl ENCODE dbSUPER 15.4 +125.5 125517 3.8 PKNOX1 FOXA2 ARID4B ZNF48 ZNF766 FOS ZNF263 PPARG TBX21 KAT8 RASSF3 GNS LOC105369804 ENSG00000215159 ENSG00000223294 ENSG00000225195 ENSG00000256314
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNS on UCSC Golden Path with GeneCards custom track

Promoters for GNS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053222 347 2601 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for GNS Gene

Chromosome:
12
Start:
64,713,442 bp from pter
End:
64,759,447 bp from pter
Size:
46,006 bases
Orientation:
Minus strand

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 isoforms=2125
  • Glycosylation at posLast=111111, posLast=117117, posLast=183183, posLast=198198, isoforms=2210, isoforms=2279, isoforms=2317, posLast=362362, posLast=387387, isoforms=2405, isoforms=2422, isoforms=2449, and isoforms=2480
  • Modification sites at PhosphoSitePlus

Other Protein References for GNS Gene

Domains & Families for GNS Gene

Gene Families for GNS Gene

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

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 TAS,IEA --
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 Model Products

CRISPR Products

miRNA for GNS Gene

miRTarBase miRNAs that target GNS

Inhibitory RNA Products

Clone Products

No data available for Animal Models , 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 23376485
genes like me logo Genes that share ontologies with GNS: view

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

(2) Drugs for GNS Gene - From: HMDB

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

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

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(2.5)
  • Blood(2.1)

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 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia GNS 34 35
  • 91.65 (n)
cow
(Bos Taurus)
Mammalia GNS 34 35
  • 90.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNS 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gns 34
  • 86.19 (n)
mouse
(Mus musculus)
Mammalia Gns 34 16 35
  • 83.46 (n)
chicken
(Gallus gallus)
Aves GNS 34 35
  • 78.04 (n)
lizard
(Anolis carolinensis)
Reptilia GNS 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gns 34
  • 72.43 (n)
Str.8976 34
African clawed frog
(Xenopus laevis)
Amphibia gns-prov 34
zebrafish
(Danio rerio)
Actinopterygii gnsa 34 35
  • 69.74 (n)
wufi20h10 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004721 34
  • 51.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18278 36 34 35
  • 50.64 (n)
CG30059 35
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06041 34
  • 41.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14329 34
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 Sequence Context AA Info Type
VAR_064070 Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
VAR_064072 Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
VAR_064073 Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]
rs119461974 Pathogenic 64,737,039(-) TGGTT(C/T)GAGGA reference, stop-gained
rs119461975 Pathogenic 64,728,988(-) AGACA(C/T)AGATG reference, stop-gained

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type iiid
  • mucopolysaccharidosis, type iiid
mucopolysaccharidosis
  • mps
mucopolysaccharidosis iii
  • mucopolysaccharidosis type iiib
multiple sulfatase deficiency
  • mucosulfatidosis
- 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.

Relevant External Links for GNS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNS
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 M.J. … van Diggelen O.P. (Hum. Mutat. 2010) 3 4 22 64
  2. Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (PMID: 12573255) Mok A. … Hegele R.A. (Genomics 2003) 3 4 22 64
  3. A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. (PMID: 19650410) ElAsioglu N.H. … Wollnik B. (Genet. Couns. 2009) 3 22 64
  4. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. (PMID: 17998446) Jansen A.C. … Andermann E. (Arch. Neurol. 2007) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GNS Gene

Sources for GNS Gene

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