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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAGLU Gene

protein-coding   GIFtS: 62
GCID: GC17P040687

N-Acetylglucosaminidase, Alpha

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acetylglucosaminidase, Alpha1 2     MPS-IIIB2
N-acetyl-alpha-glucosaminidase2 3     UFHSD2
NAG2 3     alpha-N-acetylglucosaminidase2
MPS3B2 5     EC 3.2.1.503
Sanfilippo Disease IIIB1     UFHSD13

External Ids:    HGNC: 76321   Entrez Gene: 46692   Ensembl: ENSG000001087847   OMIM: 6097015   UniProtKB: P548023   

Export aliases for NAGLU gene to outside databases

Previous GC identifers: GC17M040212 GC17M042827 GC17P040596 GC17P041061 GC17P037941 GC17P036452


(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 NAGLU Gene:
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine
residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type
IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation
and urinary excretion of heparan sulfate. (provided by RefSeq, Jul 2008)

GeneCards Summary for NAGLU Gene: 
NAGLU (N-acetylglucosaminidase, alpha) is a protein-coding gene. Diseases associated with NAGLU include pyelonephritis, and hydronephrosis, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. GO annotations related to this gene include alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
Function: Involved in the degradation of heparan sulfate




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAGLU gene promoter:
         GR   PPAR-gamma1   GR-beta   STAT3   PPAR-gamma2   GR-alpha   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NAGLU promoter sequence
   Search SABiosciences Chromatin IP Primers for NAGLU

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAGLU


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040687:  view genomic region     (about GC identifiers)

Start:
40,687,951 bp from pter      End:
40,696,467 bp from pter
Size:
8,517 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802 (See protein sequence)
Recommended Name: Alpha-N-acetylglucosaminidase precursor  
Size: 743 amino acids; 82266 Da
Subunit: Monomer and homodimer
Subcellular location: Lysosome
Caution: A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from
Arg to His. The right amino acid change is from His to Arg

Explore the universe of human proteins at neXtProt for NAGLU: NX_P54802

Explore proteomics data for NAGLU at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54802

  • NAGLU Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAGLU Protein Expression
    REFSEQ proteins: NP_000254.2  
    ENSEMBL proteins: 
     ENSP00000225927   ENSP00000467135   ENSP00000467836   ENSP00000466892   ENSP00000468665  
    Reactome Protein details: P54802
    Human Recombinant Protein Products for NAGLU: 
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    Novus Biologicals NAGLU Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NAGLU 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS8650226
    GO:0043202lysosomal lumen TAS--

    NAGLU for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NAGLU


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR024732 NAGLU_C
     IPR024733 NAGLU_tim-barrel
     IPR007781 NAGLU
     IPR024240 NAGLU_N

    Graphical View of Domain Structure for InterPro Entry P54802

    ProtoNet protein and cluster: P54802


    NAGLU for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANAG_HUMAN, P54802
    Function: Involved in the degradation of heparan sulfate
    Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in
    N-acetyl-alpha-D-glucosaminides

         Genatlas biochemistry entry for NAGLU:
    acetyl-glucosaminidase,alpha-N,77/82kDa,lysosomal,acting on heparan sulfate,catalyzing the fifth step of
    degradation of glycosaminoglycans (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.2.1.501

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004561alpha-N-acetylglucosaminidase activity IEA--
         
    NAGLU for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NAGLU:
     Increased G2M DNA content  Increased circadian period len 

         15/16 MGI mutant phenotypes (inferred from 1 allele(MGI details for Naglu) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size 
     hearing/vestibular/ear  hematopoietic system  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  pigmentation  renal/urinary system  skeleton 

    NAGLU for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Naglutm1Efn for NAGLU

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAGLU 
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    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGLU


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAGLU About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56
    HS-GAG degradation0.40
    4Lysosome
    Lysosome
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/18        Reactome Pathways for NAGLU (see all 18)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome
    MPS IIIA - Sanfilippo syndrome A


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


    NAGLU for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAGLU

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

    5/13 Interacting proteins for NAGLU (ENSP000002259274) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GUSBENSP000003027284STRING: ENSP00000302728
    HGSNATENSP000003689654STRING: ENSP00000368965
    IDSENSP000003398014STRING: ENSP00000339801
    PDIA6ENSP000002722274STRING: ENSP00000272227
    DNAJC3ENSP000003659914STRING: ENSP00000365991
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0007040lysosome organization IEA--
    GO:0007399nervous system development TAS8650226
    GO:0021680cerebellar Purkinje cell layer development IEA--

    NAGLU for ontologies           About GeneDecksing



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

    NAGLU for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NAGLU available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-PugnacO-GlcNAcase and beta-hexosaminidase inhibitor[132489-69-1]
    Thiamet GPotent O-GlcNAcase inhibitor[1009816-48-1]
    JW 480Potent and selective inhibitor of serine hydrolase KIAA1363 (AADACL1)[1354359-53-7]
    FlurofamideUrease inhibitor[70788-28-2]
    WWL 70Potent ABHD6 inhibitor[947669-91-2]

    2 HMDB Compounds for NAGLU    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for NAGLU    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6targetactivator17576230 15112051 15932346 11752352 17414423 16349528

    10/115 Novoseek inferred chemical compound relationships for NAGLU gene (see all 115)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vra-glcnac 88.9 1 1610104 (1)
    creatinine 85.3 496 8831085 (6), 7669872 (5), 9640082 (4), 12368574 (4) (see all 99)
    iopentol 73 4 1594886 (1), 8478172 (1)
    cadmium 62.2 128 2403983 (5), 1463395 (4), 9037804 (4), 1587629 (4) (see all 37)
    heparan sulfate 58.2 24 10588735 (2), 10094189 (1), 11136549 (1), 19479962 (1) (see all 17)
    dmsa 55.1 6 8036046 (2), 7696107 (1), 1282579 (1), 1962830 (1)
    ulinastatin 51.1 8 1625386 (2), 10208830 (1), 8865705 (1), 9095614 (1)
    vitamin a 46.8 23 2405789 (2), 11892904 (2), 9659267 (2), 8343421 (1) (see all 20)
    alanine 46.4 35 7910667 (1), 7526273 (1), 10841912 (1), 9184707 (1) (see all 35)
    uric acid 42.9 29 18063857 (5), 11847525 (3), 15626645 (3), 7768579 (2) (see all 13)

    Search CenterWatch for drugs/clinical trials and news about NAGLU / ANAG

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAGLU gene: 
    NM_000263.3  

    Unigene Cluster for NAGLU:

    N-acetylglucosaminidase, alpha
    Hs.50727  [show with all ESTs]
    Unigene Representative Sequence: NM_000263
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225927(uc002hzv.3) ENST00000586516 ENST00000591587 ENST00000590358
    ENST00000592454

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    Additional mRNA sequence: 

    BC053991.1 L78464.1 U40846.1 U43573.1 

    10 DOTS entries:

    DT.120973669  DT.413876  DT.100749425  DT.97817493  DT.75184455  DT.100749424  DT.100749426  DT.120973622 
    DT.95368263  DT.120973645 

    24/163 AceView cDNA sequences (see all 163):

    BM772104 BM773017 BF346260 BM752987 BF435029 NM_000263 BQ893829 BM716556 
    L78464 AU279934 AU118592 BC053991 CB268477 BM711369 AW205580 BQ012348 
    BM710066 BM746456 AI973061 BQ012843 CR623854 U43573 BG149216 AI299586 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NAGLU    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:                                                            
    SP2:                                                            
    SP3:                                            -               


    ECgene alternative splicing isoforms for NAGLU

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.50727

    UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
    Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and
    kidney

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

    (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 common ancestor of eukaryotes.

    Orthologs for NAGLU gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naglu1 , 5 alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)1, 5 83.72(n)1
    82.99(a)1
      11 (64.15 cM)5
    274191  NM_013792.21  NP_038820.21 
     1010700125 
    lizard
    (Anolis carolinensis)
    Reptilia NAGLU6
    Uncharacterized protein
    60(a)
    1 ↔ 1
    6(72905690-72919081)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.213222 Xenopus laevis transcribed sequence with weak similarity more 73.5(n)    CD327472.1 
    zebrafish
    (Danio rerio)
    Actinopterygii naglu1 N-acetylglucosaminidase, alpha 61.8(n)
    58.77(a)
      560126  XM_683516.3  XP_688608.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta ESTS:172F5T3
    CG133971
    alpha-N-acetylglucosaminidase3
    CG133971
    41(a)3
    51.29(n)1
    42.45(a)1
      29C33
    463861  NM_143788.31  NP_652045.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K09E4.43   -- 35(a)   II(14114186-14117258)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYL11 alpha-N-acetylglucosaminidase 49.98(n)
    43.65(a)
      831214  NM_121372.3  NP_196873.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAGLU gene
    1 SIMAP similar gene for NAGLU using alignment to 5 protein entries:     ANAG_HUMAN (see all proteins):
    ufHSD2

    NAGLU for paralogs           About GeneDecksing



    (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) 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

    10/384 SNPs in NAGLU are shown (see all 384)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0547224
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547222 T I mis40--------
    VAR_0547044
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547042 G S mis40--------
    VAR_0547234
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547232 E K mis40--------
    VAR_0254924
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0254922 R P mis40--------
    VAR_0547334
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547332 S G mis40--------
    VAR_0547294
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547292 R W mis40--------
    VAR_0547164
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547162 Y C mis40--------
    VAR_0050114
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0050112 P L mis40--------
    VAR_0547214
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0547212 H R mis40--------
    VAR_0254894
    Mucopolysaccharidosis 3B (MPS3B)4--see VAR_0254892 F L mis40--------

    HapMap Linkage Disequilibrium report for NAGLU (40687951 - 40696467 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NAGLU:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908255CNV Loss21882294
    dgv3172n71CNV Loss21882294
    nsv908249CNV Loss21882294
    esv30001CNV Loss17803354
    esv33998OTHER Inversion15654335


    Human Gene Mutation Database (HGMD): NAGLU
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NAGLU
    DNA2.0 Custom Variant and Variant Library Synthesis for NAGLU

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609701   
    OMIM disorders: 252920  
    UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
  • Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]: A form of mucopolysaccharidosis type 3, an autosomal
    recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by
    severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually
    occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of
    age, and death occurs typically during the second or third decade of life. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/95 diseases for NAGLU (see all 95):    About MalaCards
    pyelonephritis    hydronephrosis    oligohydramnios    chronic pyelonephritis
    acute pyelonephritis    mucopolysaccharidosis iii    subacute thyroiditis    iga glomerulonephritis
    unilateral renal agenesis    diabetic angiopathy    mucopolysaccharidosis    proteinuria
    vesicoureteral reflux    agoraphobia    steroid-resistant nephrotic syndrome    hepatorenal syndrome
    pseudohypoparathyroidism    fanconi syndrome    nephrotic syndrome    nephrocalcinosis

    2 diseases from the University of Copenhagen DISEASES database for NAGLU:
    Mucopolysaccharidosis     Intellectual disability

    NAGLU for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/92 Novoseek inferred disease relationships for NAGLU gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sanfilippos syndrome 90.5 29 10588735 (3), 9443878 (2), 19399896 (2), 20138557 (2) (see all 21)
    mps iii b 87.6 3 11136549 (1), 16401642 (1), 19399896 (1)
    mucopolysaccharidosis 80.9 26 11068184 (2), 9443875 (1), 10094189 (1), 11237686 (1) (see all 19)
    microalbuminuria 74.8 46 9612904 (4), 15330557 (4), 12368574 (4), 2150050 (2) (see all 28)
    proteinuria 74.7 79 12401843 (6), 15503426 (4), 15714179 (4), 12900807 (4) (see all 39)
    albuminuria 72.5 20 1837508 (2), 8998811 (2), 9861409 (2), 1533771 (2) (see all 15)
    renal disease 71.5 56 1962647 (4), 8739282 (3), 2342652 (3), 2150050 (2) (see all 40)
    diabetic nephropathies 68.4 35 1350771 (5), 1685160 (2), 7669872 (2), 9436372 (2) (see all 20)
    mps iiia 63 1 11793481 (1)
    toxicity renal 60 2 9061418 (1), 17306939 (1)


    Export disorders for NAGLU 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 NAGLU gene, integrated from 9 sources (see all 655):
    (articles sorted by number of sources associating them with NAGLU)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (PubMed id 11068184)1, 2, 9 Yogalingam G.... Hopwood J.J. (2000)
    2. NAGLU mutations underlying Sanfilippo syndrome type B. (PubMed id 9443878)1, 2, 9 Schmidtchen A....Neufeld E.F. (1998)
    3. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. (PubMed id 15933803)1, 2, 9 Chinen Y.... Ohta T. (2005)
    4. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. (PubMed id 11793481)1, 2, 9 Emre S....Hopwood J.J. (2002)
    5. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (PubMed id 10094189)1, 2, 9 Weber B.... Hopwood J.J. (1999)
    6. The molecular basis of Sanfilippo syndrome type B. (PubMed id 8650226)1, 2, 9 Zhao H.G.... Neufeld E.F. (1996)
    7. Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (PubMed id 8776591)1, 2, 9 Weber B.... Hopwood J.J. (1996)
    8. 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)
    9. Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. (PubMed id 12202988)1, 2 Tanaka A.... Yamano T. (2002)
    10. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. (PubMed id 9950362)1, 2 Bunge S.... Gal A. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4669 HGNC: 7632 AceView: NAGLU Ensembl:ENSG00000108784 euGenes: HUgn4669
    ECgene: NAGLU Kegg: 4669 H-InvDB: NAGLU

    (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
    NameDescription
    PharmGKB entry for NAGLU Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGLU

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

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



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