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IDS Gene

protein-coding   GIFtS: 70
GCID: GC0XM148558

Iduronate 2-Sulfatase


(Previous symbol: SIDS)
  See IDS-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
Iduronate 2-Sulfatase1 2     Iduronate 2-Sulfatase 42 KDa Chain2
SIDS1 2 3     idursulfase2
Alpha-L-Iduronate Sulfate Sulfatase2 3     EC 3.1.6.133
MPS22 5     Idursulfase3
Hunter Syndrome1     S5
Iduronate 2-Sulfatase 14 KDa Chain2     

External Ids:    HGNC: 53891   Entrez Gene: 34232   Ensembl: ENSG000000104047   OMIM: 3008235   UniProtKB: P223043   

Export aliases for IDS gene to outside databases

Previous GC identifers: GC0XM143088 GC0XM145395 GC0XM146459 GC0XM147269 GC0XM148266 GC0XM148369 GC0XM137513


(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 IDS Gene:
The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in
lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the
X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively
spliced transcript variants have been described for this gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for IDS Gene:
IDS (iduronate 2-sulfatase) is a protein-coding gene. Diseases associated with IDS include mucopolysaccharidosis type 2, severe form, and tolosa-hunt syndrome. GO annotations related to this gene include iduronate-2-sulfatase activity. An important paralog of this gene is ENSG00000241489.

UniProtKB/Swiss-Prot: IDS_HUMAN, P22304
Function: Required for the lysosomal degradation of heparan sulfate and dermatan sulfate

Gene Wiki entry for IDS (Iduronate-2-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_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the IDS gene promoter:
         NF-1/L   NF-1   S8   AP-1   HTF   ATF-2   c-Jun   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq27.3-q28

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM148558:  view genomic region     (about GC identifiers)

Start:
148,558,521 bp from pter      End:
148,615,470 bp from pter
Size:
56,950 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: IDS_HUMAN, P22304 (See protein sequence)
Recommended Name: Iduronate 2-sulfatase precursor  
Size: 550 amino acids; 61873 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subunit: Liver iduronate 2-sulfatase is composed of two major forms (A and B) which contain both a 42 kDa and a 14
kDa polypeptides
Secondary accessions: D3DWT4 Q14604 Q9BRM3
Alternative splicing: 3 isoforms:  P22304-1   P22304-2   P22304-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IDS: NX_P22304

Explore proteomics data for IDS 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 activity (By similarity)1
  • Glycosylation2 at Asn115, Asn144, Asn246, Asn280, Asn325, Asn513, Asn537

  • See IDS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000193.1  NP_001160022.1  NP_006114.1  

    ENSEMBL proteins: 
     ENSP00000339801   ENSP00000418264   ENSP00000359470   ENSP00000428980   ENSP00000390241  
     ENSP00000429745   ENSP00000441261   ENSP00000440324   ENSP00000359472  
    Reactome Protein details: P22304

    IDS Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 P22304

    ProtoNet protein and cluster: P22304

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: IDS_HUMAN, P22304
    Similarity: Belongs to the sulfatase family


    Find genes that share domains with IDS           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: IDS_HUMAN, P22304
    Function: Required for the lysosomal degradation of heparan sulfate and dermatan sulfate
    Catalytic activity: Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate,
    heparan sulfate and heparin

         Genatlas biochemistry entry for IDS:
    iduronate 2-sulfatase,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the first step of
    degradation of glucosaminoglycans (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.1.6.131

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004423iduronate-2-sulfatase activity TAS--
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with IDS           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for IDS:
     Decreased Hepatitis C virus re  Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ids):
     behavior/neurological  cellular  craniofacial  growth/size/body  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  respiratory system 
     skeleton  vision/eye 

    Find genes that share phenotypes with IDS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Idstm1Muen for IDS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IDS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IDS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IDS

    miRNA
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    miRTarBase miRNAs that target IDS:
    hsa-mir-16-5p (MIRT051099), hsa-mir-342-3p (MIRT043693), hsa-mir-181a-5p (MIRT025141), hsa-mir-9-5p (MIRT021420), hsa-mir-122-5p (MIRT023349)

    Block miRNA regulation of human, mouse, rat IDS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IDS (see all 9):
    hsa-miR-345 hsa-miR-1321 hsa-miR-429 hsa-miR-767-3p hsa-miR-513a-3p hsa-miR-7 hsa-miR-200c hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidIDS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IDS

    Gene Editing
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    Sino Biological Human cDNA Clone for IDS
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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
    IDS_HUMAN, P22304: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    endoplasmic reticulum1
    plasma membrane1

    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 IDS           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 IDS About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    CS/DS degradation0.00
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with IDS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for IDS
        HS-GAG degradation
    CS/DS degradation


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

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

        GeneGlobe Interaction Network for IDS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for IDS (P223042, 3 ENSP000003398014) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOSP011003, ENSP000003062454I2D: score=1 STRING: ENSP00000306245
    ARSBENSP000002649144STRING: ENSP00000264914
    HEXAENSP000002680974STRING: ENSP00000268097
    HPSEENSP000003081074STRING: ENSP00000308107
    IDUAENSP000002479334STRING: ENSP00000247933
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0008152metabolic process ----
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--

    Find genes that share ontologies with IDS           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 IDS

    5 HMDB Compounds for IDS    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    Heparan sulfateHHS 5 (see all 13)9050-30-0--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for IDS gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iduronate 2-sulfate 81.1 3 16022372 (2)
    dermatan sulfate 75.6 13 7663435 (1), 19602578 (1), 8244397 (1), 15500445 (1) (see all 9)
    dermatan 71.1 2 15966019 (1), 8325651 (1)
    heparan sulfate 70.6 14 15966019 (1), 7663435 (1), 19602578 (1), 8325651 (1) (see all 11)
    iduronic acid 55.4 3 7663435 (1), 8325651 (1)
    glycosaminoglycan 51.5 1 8870917 (1)
    mucopolysaccharide 49.7 1 9375851 (1)
    hind iii 44 3 8370574 (1), 1352274 (1)
    sulfate 6.5 3 7663435 (1), 8325651 (1)
    steroid 0 3 11315200 (1), 17064891 (1)



    Find genes that share compounds with IDS           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 IDS gene (3 alternative transcripts): 
    NM_000202.6  NM_001166550.2  NM_006123.4  

    Unigene Cluster for IDS:

    Iduronate 2-sulfatase
    Hs.460960  [show with all ESTs]
    Unigene Representative Sequence: NM_000202
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340855(uc011mxd.2 uc011mxe.2 uc011mxf.2 uc011mxg.2 uc010nsu.2 uc004fcw.4)
    ENST00000466323(uc011mxi.2) ENST00000370441(uc011mxh.2) ENST00000490775
    ENST00000464251 ENST00000466019 ENST00000428056(uc011mxj.2) ENST00000521702
    ENST00000541269 ENST00000537071 ENST00000370443
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IDS (see all 9):
    hsa-miR-345 hsa-miR-1321 hsa-miR-429 hsa-miR-767-3p hsa-miR-513a-3p hsa-miR-7 hsa-miR-200c hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidIDS 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat IDS
      QuantiFast Probe-based Assays in human, mouse, rat IDS

    Additional mRNA sequence: 

    AK055600.1 AK057191.1 AK294541.1 AK295815.1 AL049247.1 AL117536.1 BC006170.1 BX647357.1 
    EF363095.1 L40586.1 M58342.1 U66055.1 

    Selected DOTS entries (see all 35):

    DT.448912  DT.95214772  DT.100812442  DT.95200577  DT.101957016  DT.100038327  DT.121299290  DT.75185698 
    DT.101961952  DT.121299157  DT.91857589  DT.121643182  DT.86847177  DT.95326972  DT.440153  DT.121299119 
    DT.121640339  DT.95180971  DT.95237864  DT.95367609  DT.95367613  DT.121299195  DT.75159376  DT.95200572 

    Selected AceView cDNA sequences (see all 471):

    BU188264 BU158088 F01862 BE407147 H10977 AU138163 NM_006123 AF179281 
    BE676359 BI031684 CF593282 CF131316 U66052 AA324426 AK124040 D51878 
    U66045 BM313513 CA866297 F11231 BQ879975 AI359729 BU185206 BQ000521 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IDS (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                                      -     -           -     -                                                                                 
    SP2:                                      -     -                                                                                                   
    SP3:                                                        -     -                                                     -                           
    SP4:                                                        -     -                                                     -                           
    SP5:                                                                                                                    -     -     -               


    ECgene alternative splicing isoforms for IDS

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


    IDS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Amygdala
             Globus Pallidus   
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Granulocytes Peripheral Blood
             Peripheral blood-derived hematopoietic stem cells
             neutrophils   
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
    IDS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IDS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460960

    UniProtKB/Swiss-Prot: IDS_HUMAN, P22304
    Tissue specificity: Liver, kidney, lung, and placenta

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    In Situ
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    (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 IDS gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ids1 , 5 iduronate 2-sulfatase1, 5 84.31(n)1
    86.13(a)1
      X (36.01 cM)5
    159311  NM_010498.31  NP_034628.21 
     703430695 
    chicken
    (Gallus gallus)
    Aves IDS1 iduronate 2-sulfatase 68.33(n)
    68.15(a)
      422392  NM_001277660.1  NP_001264589.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    66(a)
    1 → many
    GL343310.1(1085433-1094480)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.195402 Transcribed sequence with moderate similarity to protein more 72.39(n)    AL886751.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ids1 iduronate 2-sulfatase 62.62(n)
    63.55(a)
      559959  NM_001080068.1  NP_001073537.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120141 , 3 iduronate-2-sulfatase3
    CG120141
    44(a)3
    51.8(n)1
    48.63(a)1
      63D23
    384231  NM_139557.21  NP_647814.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IDS gene
    ENSG000002414892  ARSK2  
    9 SIMAP similar genes for IDS using alignment to 8 protein entries:     IDS_HUMAN (see all proteins):
    SGSH    STS    ARSB    ARSH    ARSE    ARSF
    ARSJ    ARSI    DKFZp686G12235

    Find genes that share paralogs with IDS           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for IDS
    PGOHUM00000242070


    (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 IDS (see all 627)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1458074171,2,,4
    C,FMucopolysaccharidosis 2 (MPS2)4 --148525503(+) CTGTGT/CATCCA 6 /T /A mis11Minor allele frequency- C:0.01NA 4548
    rs1464585241,2,,4
    C,FMucopolysaccharidosis 2 (MPS2)4 --148531579(+) GGGATC/TGGGGG 6 N D mis11Minor allele frequency- T:0.00NA 4550
    VAR_0073234
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0073232 S N mis40--------
    VAR_0269614
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0269612 Y S mis40--------
    rs289373101,2,4
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0073722 mis40--------
    VAR_0073614
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0073612 W R mis40--------
    VAR_0269284
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0269282 Q H mis40--------
    VAR_0073134
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0073132 D N mis40--------
    VAR_0269514
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0269512 G R mis40--------
    VAR_0073844
    Mucopolysaccharidosis 2 (MPS2)4--see VAR_0073842 W C mis40--------

    HapMap Linkage Disequilibrium report for IDS (148558521 - 148615470 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IDS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7147CNV Insertion18451855
    esv33821CNV Loss17666407
    nsv525908CNV Gain19592680
    nsv518742CNV Gain19592680

    Human Gene Mutation Database (HGMD): IDS
    Locus Specific Mutation Databases (LSDB): IDS

    Site Specific Mutation Identification with PCR Assays
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    (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: 300823   
    OMIM disorders: 309900  
    UniProtKB/Swiss-Prot: IDS_HUMAN, P22304
  • Mucopolysaccharidosis 2 (MPS2) [MIM:309900]: An X-linked lysosomal storage disease characterized by
    intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children
    with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly,
    and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as
    developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years
    of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form
    of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for IDS:    
    About MalaCards
    mucopolysaccharidosis type 2, severe form    tolosa-hunt syndrome    mucopolysaccharidosis type 2, attenuated form    shaken baby syndrome
    mucopolysaccharidosis ii    mucopolysaccharidosis    lysosomal storage disease    tracheal stenosis
    x-linked disease    sudden infant death syndrome

    4 diseases from the University of Copenhagen DISEASES database for IDS:
    Mucopolysaccharidosis     Tracheal stenosis     tolosa-hunt syndrome     X-linked disease

    Find genes that share disorders with IDS           About GenesLikeMe

    8 Novoseek inferred disease relationships for IDS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hunters syndrome 98.9 219 17345556 (4), 1901826 (3), 8835216 (3), 18201153 (3) (see all 96)
    mucopolysaccharidosis 82.1 9 8103756 (1), 15146464 (1), 17284421 (1), 1303177 (1) (see all 7)
    sudden infant death syndrome 80.4 20 2007878 (1), 8198848 (1), 15960133 (1), 8185361 (1) (see all 18)
    lysosomal storage diseases 78.3 10 17217652 (1), 9337875 (1), 16480701 (1), 18331837 (1) (see all 8)
    asphyxia 21.9 3 12638728 (1), 1474151 (1)
    mental retardation 21.3 1 17506108 (1)
    leukemia 0 2 8835216 (1), 10808215 (1)
    genetic disorder 0 2 1464193 (1)

    GeneTests: IDS
    GeneReviews: IDS
    Genetic Association Database (GAD): IDS
    Human Genome Epidemiology (HuGE) Navigator: IDS (8 documents)

    Export disorders for IDS 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 IDS gene, integrated from 10 sources (see all 207):
    (articles sorted by number of sources associating them with IDS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. (PubMed id 2122463)1, 2, 9 Wilson P.J.... Hopwood J.J. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    2. Sequence of the human iduronate 2-sulfatase (IDS) gene. (PubMed id 8244397)1, 2, 9 Wilson P.J.... Morris C.P. (Genomics 1993)
    3. Identification of an alternative transcript from the human iduronate- 2-sulfatase (IDS) gene. (PubMed id 8530090)1, 2, 9 Malmgren H.... Bondeson M.L. (Genomics 1995)
    4. Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). (PubMed id 7981716)1, 2, 9 Schroeder W.... Herrmann F.H. (Hum. Mutat. 1994)
    5. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). (PubMed id 9950361)1, 2, 9 Li P.... Thompson J.N. (J. Med. Genet. 1999)
    6. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. (PubMed id 9921913)1, 2, 9 Karsten S.... Bondeson M.-L. (Hum. Genet. 1998)
    7. Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. (PubMed id 7887413)1, 2, 9 Jonsson J.J.... Whitley C.B. (Am. J. Hum. Genet. 1995)
    8. The effect of four mutations on the expression of iduronate-2- sulfatase in mucopolysaccharidosis type II. (PubMed id 11731225)1, 2, 9 Bonuccelli G....Filocamo M. (Biochim. Biophys. Acta 2001)
    9. Expression of five iduronate-2-sulfatase site-directed mutations. (PubMed id 10838181)1, 2, 9 Villani G.R.D.... Di Natale P. (Biochim. Biophys. Acta 2000)
    10. Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients. (PubMed id 10671065)1, 2, 9 Karsten S.L.... Bondeson M.-L. (Hum. Mutat. 1998)

    (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: 3423 HGNC: 5389 AceView: IDS Ensembl:ENSG00000010404 euGenes: HUgn3423
    ECgene: IDS Kegg: 3423 H-InvDB: IDS

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

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



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