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

Gene ID: 3423, updated on 26-May-2016
Official Symbol
IDSprovided by HGNC
Official Full Name
iduronate 2-sulfataseprovided by HGNC
Primary source
HGNC:HGNC:5389
See related
Ensembl:ENSG00000010404 HPRD:02402; 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
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (149478764..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 ribosomal protein L7 like 1 pseudogene 11 Neighboring gene AF4/FMR2 family member 2 Neighboring gene long intergenic non-protein coding RNA 893 Neighboring gene iduronate 2-sulfatase pseudogene 1 Neighboring gene uncharacterized LOC105373366

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 (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, OTTHUMP00000216437, ENST00000340855, OTTHUMT00000058677
    Conserved Domains (2) summary
    COG3119
    Location:33544
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl21476
    Location:38416
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  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
    cl21476
    Location:23326
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...
  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, OTTHUMP00000216439, ENST00000370441, OTTHUMT00000058680
    Conserved Domains (1) summary
    cl21476
    Location:38336
    alkPPc; Alkaline phosphatase homologues; alkaline phosphatases are non-specific phosphomonoesterases that catalyze the hydrolysis reaction via a phosphoseryl intermediate to produce inorganic phosphate and the corresponding alcohol, optimally at high pH. ...

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, OTTHUMT00000058679

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    149478764..149505354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    148521322..148547912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)