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GALNS Gene

protein-coding   GIFtS: 62
GCID: GC16M088880

Galactosamine (N-Acetyl)-6-Sulfate Sulfatase

  See GALNS-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
Galactosamine (N-Acetyl)-6-Sulfate Sulfatase1 2     GALNAC6S2
Galactose-6-Sulfate Sulfatase2 3     GAS2
GalNAc6S Sulfatase2 3     N-acetylgalactosamine-6-sulfatase2
GalN6S2 3     chondroitinase2
N-Acetylgalactosamine-6-Sulfate Sulfatase2 3     chondroitinsulfatase2
EC 3.1.6.43 8     Chondroitinase3
MPS4A2 5     Chondroitinsulfatase3
Morquio Syndrome1     EC 3.1.68
Mucopolysaccharidosis Type IVA1     

External Ids:    HGNC: 41221   Entrez Gene: 25882   Ensembl: ENSG000001410127   OMIM: 6122225   UniProtKB: P340593   

Export aliases for GALNS gene to outside databases

Previous GC identifers: GC16P080398 GC16P090059 GC16M088583 GC16M088624 GC16M087407 GC16M074577


(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 GALNS Gene:
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation
of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point,
missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme.
Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. (provided by RefSeq, Jul
2008)

GeneCards Summary for GALNS Gene:
GALNS (galactosamine (N-acetyl)-6-sulfate sulfatase) is a protein-coding gene. Diseases associated with GALNS include mucopolysaccharidosis iv, and kniest dysplasia. GO annotations related to this gene include N-acetylgalactosamine-6-sulfatase activity and sulfuric ester hydrolase activity. An important paralog of this gene is ARSF.

Gene Wiki entry for GALNS (Galactosamine-6 sulfatase) Gene


(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_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALNS gene promoter:
         Max1   Sp1   AML1a   Pax-5   CUTL1   IRF-2   HOXA5   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALNS promoter sequence
   Search Chromatin IP Primers for GALNS

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


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M088880:  view genomic region     (about GC identifiers)

Start:
88,880,142 bp from pter      End:
88,923,378 bp from pter
Size:
43,237 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GALNS_HUMAN, P34059 (See protein sequence)
Recommended Name: N-acetylgalactosamine-6-sulfatase precursor  
Size: 522 amino acids; 58026 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Homodimer
2 PDB 3D structures from and Proteopedia for GALNS:
4FDI (3D)        4FDJ (3D)    
Secondary accessions: Q86VK3

Explore the universe of human proteins at neXtProt for GALNS: NX_P34059

Explore proteomics data for GALNS at MOPED

Post-translational modifications: 

  • 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 activity1
  • Glycosylation2 at Asn204, Asn423
  • Selected DME Specific Peptides for GALNS (P34059) (see all 8)
     DDMGWGDLG  DATHAPVYAS  PSRAALLTGRLP  NTFVFFTSDNGAAL 


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

    REFSEQ proteins: NP_000503.1  
    ENSEMBL proteins: 
     ENSP00000268695   ENSP00000454484   ENSP00000457921   ENSP00000455174   ENSP00000455006  
     ENSP00000456884   ENSP00000438197  
    Reactome Protein details: P34059

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for GALNS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARS: Arylsulfatase family

    4 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry P34059

    ProtoNet protein and cluster: P34059

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: GALNS_HUMAN, P34059
    Similarity: Belongs to the sulfatase family


    Find genes that share domains with GALNS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: GALNS_HUMAN, P34059
    Catalytic activity: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of
    chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate

         Genatlas biochemistry entry for GALNS:
    acetyl-galactosamine-6-sulfate sulfatase,lysosomal,acting on keratan sulfate,stepwise degradation of
    glycosaminoglycans (mucopolysaccharides)

         Enzyme Numbers (IUBMB): EC 3.1.6.41 2 EC 3.1.62

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003943N-acetylgalactosamine-4-sulfatase activity TAS8325655
    GO:0008484sulfuric ester hydrolase activity IDA15962010
    GO:0043890N-acetylgalactosamine-6-sulfatase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with GALNS           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Galns):
     cellular  homeostasis/metabolism  renal/urinary system  skeleton  vision/eye 

    Find genes that share phenotypes with GALNS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GALNS: Galnstm1Toma Galnstm3Toma

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALNS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GALNS
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    (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
    GALNS_HUMAN, P34059: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with GALNS           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 GALNS About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Lysosome
    Lysosome
    3Glycosaminoglycan degradation
    Glycosaminoglycan degradation


    Find genes that share SuperPaths with GALNS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GALNS
        CCKBR-Gastrin Stimulated Signaling
    WNT Signaling

    1 Reactome Pathway for GALNS
        Keratan sulfate degradation


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

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

        Search GeneGlobe Interaction Network for GALNS

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for GALNS (P340593 ENSP000002686954) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227129Q995193, ENSP000004089574I2D: score=1 STRING: ENSP00000408957
    ENSG00000184494Q995193I2D: score=1 
    ENSG00000223957Q995193I2D: score=1 
    ENSG00000227315Q995193I2D: score=1 
    ENSG00000228691Q995193I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--
    GO:0042340keratan sulfate catabolic process TAS--

    Find genes that share ontologies with GALNS           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 GALNS

    6 HMDB Compounds for GALNS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    KeratanKerato sulfate (see all 4)69992-87-6--
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for GALNS gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylgalactosamine 6-sulfate 98.6 105 1794986 (5), 19394256 (3), 12442278 (3), 1755850 (3) (see all 43)
    galactose 6-sulfate 90.4 10 1794986 (3), 9660054 (1), 10857789 (1), 12489154 (1)
    chondroitin sulfate 88.5 46 12630899 (3), 16831535 (3), 8174650 (1), 2324108 (1) (see all 28)
    keratan sulfate 82.8 24 8910459 (3), 12489154 (3), 18056156 (2), 17498992 (1) (see all 9)
    dermatan sulfate 82.6 14 12630899 (2), 12030585 (1), 8311553 (1), 7985792 (1) (see all 9)
    sodium chlorate 81.1 5 14705951 (1), 11801740 (1), 15144459 (1), 7605368 (1) (see all 5)
    heparan sulfate 79.7 15 1394971 (2), 17702986 (1), 10583162 (1), 10231373 (1) (see all 9)
    beta-d-xyloside 79.2 3 7522438 (1), 7775583 (1), 11720131 (1)
    chondroitin 79 4 16289010 (1), 18265142 (1), 15716629 (1), 18849565 (1)
    glycosaminoglycan 75.1 10 8240239 (2), 8948573 (1), 9507007 (1), 10507462 (1) (see all 8)



    Find genes that share compounds with GALNS           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 GALNS gene: 
    NM_000512.4  

    Unigene Cluster for GALNS:

    Galactosamine (N-acetyl)-6-sulfate sulfatase
    Hs.271383  [show with all ESTs]
    Unigene Representative Sequence: BC050684
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268695(uc002fly.4 uc010cid.3 uc002flz.4) ENST00000562593
    ENST00000567525 ENST00000568613 ENST00000564263 ENST00000562931 ENST00000566563
    ENST00000562831 ENST00000561812 ENST00000565364 ENST00000567779 ENST00000568311(uc002fma.3)
    ENST00000569433 ENST00000542788
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      QuantiFast Probe-based Assays in human, mouse, rat GALNS

    Additional mRNA sequence: 

    AK021488.1 AK294390.1 AK310392.1 AK312655.1 AY129021.1 BC007825.2 BC018027.1 BC050684.1 
    BC056151.1 

    15 DOTS entries:

    DT.409015  DT.403873  DT.100732581  DT.99988078  DT.100782460  DT.120681905  DT.100664658  DT.120681878 
    DT.91641378  DT.91763230  DT.120681909  DT.40199062  DT.40237631  DT.75121394  DT.91689762 

    Selected AceView cDNA sequences (see all 148):

    BC050684 AW135679 CR592952 CB321704 CR620126 BM768768 AU279442 BX356431 
    BU625775 CD364411 BM769352 AI827843 BE875288 AI904578 BC056151 BF057173 
    AA125740 BQ691657 AW204972 BC007825 AI188117 BU175509 AY129021 BG120673 

    GeneLoc Exon Structure


    (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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    GALNS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGGGCAC
    GALNS Expression
    About this image


    GALNS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    GALNS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALNS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271383
        Custom PCR Arrays for GALNS
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALNS

    (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 GALNS gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galns1 , 5 galactosamine (N-acetyl)-6-sulfate sulfatase1, 5 83.75(n)1
    85.74(a)1
      8 (71.91 cM)5
    509171  NM_016722.41  NP_057931.31 
     1225782385 
    chicken
    (Gallus gallus)
    Aves GALNS1 galactosamine (N-acetyl)-6-sulfate sulfatase 75.68(n)
    79.56(a)
      415848  XM_414208.4  XP_414208.1 
    lizard
    (Anolis carolinensis)
    Reptilia GALNS6
    galactosamine (N-acetyl)-6-sulfate sulfatase
    75(a)
    1 ↔ 1
    GL343948.1(22246-75179)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia galns1 galactosamine (N-acetyl)-6-sulfate sulfatase 71.57(n)
    76.94(a)
      100485376  XM_002933655.2  XP_002933701.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.132482 Transcribed sequence with weak similarity to protein more 73.52(n)    BI885263.1 
    worm
    (Caenorhabditis elegans)
    Secernentea D1014.13 arylsulfatase 33(a)   V(8160224-8161279)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GALNS gene
    ARSF2  ARSI2  ARSJ2  ARSG2  ARSA2  STS2  ARSH2  ARSB2  
    ARSE2  ARSD2  
    4 SIMAP similar genes for GALNS using alignment to 7 protein entries:     GALNS_HUMAN (see all proteins):
    FLJ00319    DKFZp686M2125    ARSG    ARSA

    Find genes that share paralogs with GALNS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GALNS
    PGOHUM00000262307


    (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 GALNS (see all 1840)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507342701,2,,4
    C,FMucopolysaccharidosis 4A (MPS4A)4 --89893554(+) TCAGCC/TGGCCC 2 Q R mis11Minor allele frequency- T:0.00NA 4242
    rs1182044431,2,,4
    CMucopolysaccharidosis 4A (MPS4A)4 pathogenic189898903(-) CAGGTG/TGCAGC 2 G C mis10--------
    rs1485655591,2,,4
    C,FMucopolysaccharidosis 4A (MPS4A)4 --89904424(+) TCCAAA/CGTGGC 2 V F mis12Minor allele frequency- C:0.00NA EU 5717
    VAR_0248754
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0248752 G R mis40--------
    VAR_0249154
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0249152 A V mis40--------
    VAR_0249024
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0249022 L P mis40--------
    VAR_0072174
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0072172 G R mis40--------
    VAR_0072114
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0072112 S L mis40--------
    VAR_0249054
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0249052 G D mis40--------
    VAR_0072124
    Mucopolysaccharidosis 4A (MPS4A)4--see VAR_0072122 G S mis40--------

    HapMap Linkage Disequilibrium report for GALNS (88880142 - 88923378 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GALNS (see all 52):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715060CNV Deletion23290073
    esv2715051CNV Deletion23290073
    esv2715050CNV Deletion23290073
    esv2740749CNV Deletion23290073
    esv2715046CNV Deletion23290073
    esv2674381CNV Deletion23128226
    esv2715062CNV Deletion23290073
    esv2715058CNV Deletion23290073
    esv2715056CNV Deletion23290073
    esv2715057CNV Deletion23290073

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

    (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: 612222   
    OMIM disorders: 253000  
    UniProtKB/Swiss-Prot: GALNS_HUMAN, P34059
  • Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal
    recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and
    chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and
    corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the
    skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe
    phenotype usually do not survive past the second or third decade of life. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for GALNS:    
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    mucopolysaccharidosis iv    kniest dysplasia    spondyloepiphyseal dysplasia congenita    mucopolysaccharidosis vi
    mucopolysaccharidosis    larsen syndrome    beta-ketothiolase deficiency    ketothiolase deficiency

    5 diseases from the University of Copenhagen DISEASES database for GALNS:
    Mucopolysaccharidosis     Larsen syndrome     Gangliosidosis     Kniest dysplasia
    Spondyloepiphyseal dysplasia congenita

    Find genes that share disorders with GALNS           About GenesLikeMe

    10 Novoseek inferred disease relationships for GALNS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucopolysaccharidosis 92.4 77 19373925 (3), 8829629 (2), 9385378 (2), 7607677 (2) (see all 37)
    morquios syndrome 91.2 38 19394256 (3), 8020961 (2), 8829629 (2), 1755850 (2) (see all 19)
    mps iv a 85.6 8 10699374 (3), 17264040 (2), 8020961 (1)
    lysosomal storage diseases 54.9 3 16837223 (1), 19394256 (1)
    enzyme deficiency 51.9 2 7795586 (1)
    skeletal dysplasia 37.8 1 8910459 (1)
    scar 23.1 5 17394547 (1), 18000864 (1), 18221191 (1)
    cancer 0.919 1 19578779 (1)
    arthritis 0 4 2194463 (2)
    melanoma 0 2 11290371 (1), 12519080 (1)

    Genetic Association Database (GAD): GALNS
    Human Genome Epidemiology (HuGE) Navigator: GALNS (1 document)

    Export disorders for GALNS 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 GALNS gene, integrated from 10 sources (see all 203):
    (articles sorted by number of sources associating them with GALNS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PubMed id 1755850)1, 2, 3, 9 Tomatsu S.... Orii T. (Biochem. Biophys. Res. Commun. 1991)
    2. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA). (PubMed id 8826435)1, 2, 9 Cole D.E.C.... Orii T. (Am. J. Med. Genet. 1996)
    3. Morquio A syndrome: cloning, sequence, and structure of the human N- acetylgalactosamine 6-sulfatase (GALNS) gene. (PubMed id 8001980)1, 2, 9 Morris C.P.... Scott H.S. (Genomics 1994)
    4. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (PubMed id 16287098)1, 2, 9 Tomatsu S.... Orii T. (Hum. Mutat. 2005)
    5. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. (PubMed id 7668283)1, 2, 9 Tomatsu S.... Orii T. (Am. J. Hum. Genet. 1995)
    6. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. (PubMed id 9521421)1, 2, 9 Yamada N.... Orii T. (Hum. Mutat. 1998)
    7. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. (PubMed id 9375852)1, 2, 9 Tomatsu S.... Orii T. (Hum. Mutat. 1997)
    8. Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. (PubMed id 7795586)1, 2, 9 Ogawa T.... Orii T. (Hum. Mol. Genet. 1995)
    9. Identification of 31 novel mutations in the N-acetylgalactosamine-6- sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. (PubMed id 9298823)1, 2, 9 Bunge S....Gal A. (Hum. Mutat. 1997)
    10. Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. (PubMed id 8651279)1, 2, 9 Tomatsu S.... Orii T. (Am. J. Hum. Genet. 1996)

    (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: 2588 HGNC: 4122 AceView: GALNS Ensembl:ENSG00000141012 euGenes: HUgn2588
    ECgene: GALNS Kegg: 2588 H-InvDB: GALNS

    (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)
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    NameDescription
    PharmGKB entry for GALNS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GALNS[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 GALNS gene:
    Search GeneIP for patents involving GALNS

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



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