Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 3423, updated on 4-Jun-2017
    Official Symbol
    IDSprovided by HGNC
    Official Full Name
    iduronate 2-sulfataseprovided by HGNC
    Primary source
    HGNC:HGNC:5389
    See related
    Ensembl:ENSG00000010404 MIM:300823; Vega:OTTHUMG00000022615
    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
    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]
    Orthologs
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (149476990..149505354, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148560295..148586884, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene AF4/FMR2 family member 2 Neighboring gene RNA, 7SK small nuclear pseudogene 267 Neighboring gene uncharacterized LOC107985667 Neighboring gene long intergenic non-protein coding RNA 893 Neighboring gene iduronate 2-sulfatase pseudogene 1 Neighboring gene uncharacterized IDS2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    iduronate-2-sulfatase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chondroitin sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    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

    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
      4981..33345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000202.7NP_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
      P22304
      Related
      ENSP00000339801.6, OTTHUMP00000216437, ENST00000340855.10, OTTHUMT00000058677
      Conserved Domains (2) summary
      COG3119
      Location:33544
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16030
      Location:38540
      iduronate-2-sulfatase; iduronate-2-sulfatase
    2. NM_001166550.3NP_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, DA325538, DA351886, M58342, R46390
      UniProtKB/Swiss-Prot
      P22304
      UniProtKB/TrEMBL
      B4DGD7
      Conserved Domains (1) summary
      cd16030
      Location:5450
      iduronate-2-sulfatase; iduronate-2-sulfatase
    3. NM_006123.4NP_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, OTTHUMP00000216439, ENST00000370441.8, OTTHUMT00000058680
      Conserved Domains (1) summary
      cd16030
      Location:38337
      iduronate-2-sulfatase; iduronate-2-sulfatase

    RNA

    1. NR_104128.1 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, OTTHUMT00000058679

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      149476990..149505354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      148519548..148547912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center