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    IDS iduronate 2-sulfatase [ Homo sapiens (human) ]

    Gene ID: 3423, updated on 26-Nov-2024

    Summary

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    Official Symbol
    IDSprovided by HGNC
    Official Full Name
    iduronate 2-sulfataseprovided by HGNC
    Primary source
    HGNC:HGNC:5389
    See related
    Ensembl:ENSG00000010404 MIM:300823; AllianceGenome:HGNC:5389
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ID2S; MPS2; SIDS
    Summary
    This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the 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. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in brain (RPKM 168.5), adrenal (RPKM 29.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IDS in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149476988..149505306, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147742730..147771047, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148558519..148586836, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC122319696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:148517664-148518235 Neighboring gene uncharacterized LOC107985667 Neighboring gene Sharpr-MPRA regulatory region 6851 Neighboring gene IDS recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:148585415-148585963 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:148586087-148586588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30015 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:148591963-148593162 Neighboring gene Sharpr-MPRA regulatory region 15241 Neighboring gene IDSP1 recombination region Neighboring gene EOLA1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21041 Neighboring gene iduronate 2-sulfatase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online. Vallance HD, et al. Hum Mutat, 1999. PMID 10220152
    2. Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons. Li P, et al. J Inherit Metab Dis, 1996. PMID 8830188
    3. Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. Villani GR, et al. Hum Mutat, 1997. PMID 9222763
    4. Molecular analysis in 23 Hunter disease families. Lissens W, et al. J Inherit Metab Dis, 1997 Jul. PMID 9266380
    5. Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue. Millat G, et al. Biochem J, 1997 Aug 15. PMID 9337875, Free PMC Article

    See all (115) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.
      Title: Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.
    2. Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
      Title: Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
    3. Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.
      Title: Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.
    4. Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.
      Title: Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.
    5. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
      Title: Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
    6. Mucopolysaccharidosis type II R468Q IDS mutant could not be refolded in the calnexin cycle.Calnexin accelerates the folding of the mucopolysaccharidosis type II mutant IDS in the endoplasmic reticulum.
      Title: Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
    7. Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants
      Title: Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
    8. IDS structure revealed by X-ray crystallography provides essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes.
      Title: Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
    9. Study analyzed the genotype-phenotype relationship for 17 patients with mucopolysaccharidosis II and performed expression studies for 12 variants, nine of which have not been reported previously; speculated that very low or cell-type-specific IDS residual activity is sufficient to prevent the neuronal phenotype.
      Title: Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
    10. Study identified 16 novel mutations in the IDS gene and revealed that the severe type of mucopolysaccharidosis type II is strongly associated with large structural alteration of the gene.
      Title: Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mucopolysaccharidosis, MPS-II
    MedGen: C0026705 OMIM: 309900 GeneReviews: Mucopolysaccharidosis Type II
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-11-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iduronate-2-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iduronate-2-sulfatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dermatan sulfate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosaminoglycan catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    iduronate 2-sulfatase
    Names
    alpha-L-iduronate sulfate sulfatase
    iduronate 2-sulfatase 14 kDa chain
    iduronate 2-sulfatase 42 kDa chain
    idursulfase
    NP_000193.1
    NP_001160022.1
    NP_006114.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011900.3 RefSeqGene

      Range
      5029..33347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000202.8 → NP_000193.1  iduronate 2-sulfatase isoform a preproprotein

      See identical proteins and their annotated locations for NP_000193.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC233288, AK055600, AK057191, BY996633, CK004173, CN303532, DA325538, DA351886, M58342, R46390
      Consensus CDS
      CCDS14685.1
      UniProtKB/Swiss-Prot
      D3DWT4, P22304, Q14604, Q9BRM3
      Related
      ENSP00000339801.6, ENST00000340855.11
      Conserved Domains (2) summary
      COG3119
      Location:33 → 544
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16030
      Location:38 → 540
      iduronate-2-sulfatase; iduronate-2-sulfatase

    2. NM_001166550.4 → NP_001160022.1  iduronate 2-sulfatase isoform c

      See identical proteins and their annotated locations for NP_001160022.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site in the 5' coding region, which results in translation initiation from a downstream initiation codon compared to variant 1. The encoded isoform (c) has a shorter and distinct N-terminus, and lacks a predicted signal peptide compared to isoform a.
      Source sequence(s)
      AC233288, AK055600, AK057191, AK294541, BY996633, CK004173, CN303532, DA351886, M58342, R46390
      UniProtKB/TrEMBL
      B4DGD7
      Conserved Domains (1) summary
      cd16030
      Location:5 → 450
      iduronate-2-sulfatase; iduronate-2-sulfatase

    3. NM_006123.5 → NP_006114.1  iduronate 2-sulfatase isoform b precursor

      See identical proteins and their annotated locations for NP_006114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1. The encoded isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC006170, DA325538, L40586
      Consensus CDS
      CCDS14686.1
      UniProtKB/Swiss-Prot
      P22304
      Related
      ENSP00000359470.4, ENST00000370441.8
      Conserved Domains (1) summary
      cd16030
      Location:38 → 337
      iduronate-2-sulfatase

    RNA

    1. NR_104128.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a novel internal exon and an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC006170, DA325538
      Related
      ENST00000466323.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      149476988..149505306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      147742730..147771047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22304.1 GenPept UniProtKB/Swiss-Prot:P22304

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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