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

Gene ID: 3423, updated on 27-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
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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
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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

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