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

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; 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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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?
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.
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.
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
Title: Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
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.
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.
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.
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.
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

Go to the top of the page Help

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	not available

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 EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

PMC156606P4 (e-PCR)
- UniSTS:271411

RH78585 (e-PCR)
- UniSTS:57653

GDB:568794 (e-PCR)
- UniSTS:157755

GDB:568797 (e-PCR)
- UniSTS:157756

RH67788 (e-PCR)
- UniSTS:23625

L18426 (e-PCR)
- UniSTS:34648

STS-R15451 (e-PCR)
- UniSTS:23398

SHGC-132567 (e-PCR)
- UniSTS:170854

PMC24149P4 (e-PCR)
- UniSTS:272235

RH69756 (e-PCR)
- UniSTS:34928

IDS__6440 (e-PCR)
- UniSTS:463995

DXS6981E (e-PCR)
- UniSTS:99457

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-36026 (e-PCR)
- UniSTS:46491

GDB:511278 (e-PCR)
- UniSTS:99487

RH47309 (e-PCR)
- UniSTS:6304

RH47302 (e-PCR)
- UniSTS:6305

IDS (e-PCR)
- UniSTS:266923

PMC311008P2 (e-PCR)
- UniSTS:266923

NoName (e-PCR)
- UniSTS:153517

DXS7018E (e-PCR)
- UniSTS:59570

DXS9739 (e-PCR)
- UniSTS:74181

GDB:629871 (e-PCR)
- UniSTS:158407

GDB:629939 (e-PCR)
- UniSTS:158408

GDB:629943 (e-PCR)
- UniSTS:158409

GDB:629946 (e-PCR)
- UniSTS:158410

GDB:629963 (e-PCR)
- UniSTS:158411

GDB:629977 (e-PCR)
- UniSTS:158413

G27404 (e-PCR)
- UniSTS:30157

GDB:629998 (e-PCR)
- UniSTS:158414

GDB:630007 (e-PCR)
- UniSTS:158417

GDB:630010 (e-PCR)
- UniSTS:158418

GDB:631496 (e-PCR)
- UniSTS:158420

GDB:631572 (e-PCR)
- UniSTS:158421

GDB:631575 (e-PCR)
- UniSTS:158422

GDB:631578 (e-PCR)
- UniSTS:158423

STS-M58342 (e-PCR)
- UniSTS:22500

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

Go to the top of the page Help

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

EC 3.1.6.13

NP_001160022.1

EC 3.1.6.13

NP_006114.1

EC 3.1.6.13

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_011900.3 RefSeqGene

Range

5029..33347

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

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