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

Gene ID: 3423, updated on 1-Jun-2020

Summary

Official Symbol
IDSprovided by HGNC
Official Full Name
iduronate 2-sulfataseprovided by HGNC
Primary source
HGNC:HGNC:5389
See related
Ensembl:ENSG00000010404 MIM:300823
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

Genomic context

See IDS in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (149476988..149505306, 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 RN7SK pseudogene 267 Neighboring gene uncharacterized LOC107985667 Neighboring gene IDS recombination region Neighboring gene IDSP1 recombination region Neighboring gene long intergenic non-protein coding RNA 893 Neighboring gene iduronate 2-sulfatase pseudogene 1 Neighboring gene uncharacterized IDS2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
iduronate-2-sulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iduronate-2-sulfatase activity IDA
Inferred from Direct Assay
more info
PubMed 
sulfuric ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chondroitin sulfate catabolic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_000202.8NP_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, ENST00000340855.11
    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_001166550.4NP_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/Swiss-Prot
    P22304
    UniProtKB/TrEMBL
    B4DGD7
    Conserved Domains (1) summary
    cd16030
    Location:5450
    iduronate-2-sulfatase; iduronate-2-sulfatase
  3. NM_006123.5NP_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:38337
    iduronate-2-sulfatase; 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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