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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IDS
iduronate 2-sulfatase
Chromosome X Β· Xq28
NCBI Gene: 3423Ensembl: ENSG00000010404.19HGNC: HGNC:5389UniProt: B4DGD7
116PubMed Papers
21Diseases
0Drugs
794Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcalcium ion bindinglysosomeglycosaminoglycan catabolic processmucopolysaccharidosis type 2mucopolysaccharidosisgenetic disordermucopolysaccharidosis type 2, severe form
✦AI Summary

IDS (iduronate 2-sulfatase) is a lysosomal enzyme that catalyzes the degradation of glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate 1. The enzyme functions within the lysosomal lumen and requires calcium ion binding for its activity. IDS is encoded by an X-linked gene containing 9 coding exons, with the human gene showing high conservation across vertebrates (60-99% sequence identity) 2. Deficiency in IDS activity due to genetic mutations causes mucopolysaccharidosis type II (MPS II or Hunter syndrome), an X-linked recessive lysosomal storage disorder 1. In MPS II patients, GAG accumulation occurs in most cells across all tissues and organs, resulting in severe somatic and neurological disorders 1. The IDS gene exhibits significant genetic heterogeneity, with over 779 point variants identified, including missense mutations (most common), large deletions-insertions, and complex rearrangements involving recombination with the pseudogene IDSP1 3. Approximately 22.5% of IDS mutations are de novo 4. Current enzyme replacement therapy with human IDS is limited by its inability to cross the blood-brain barrier, necessitating development of novel therapeutic approaches like BBB-penetrating fusion proteins for treating CNS manifestations 1.

Sources cited
1
IDS catalyzes GAG degradation, deficiency causes MPS II with GAG accumulation and severe disorders, and current therapy cannot cross blood-brain barrier
PMID: 29606503
2
IDS gene structure with 9 coding exons and high conservation across vertebrates (60-99% sequence identity)
PMID: 28401457
3
IDS genetic heterogeneity with over 779 point variants including missense mutations and complex rearrangements
PMID: 39617925
4
22.5% of IDS mutations are de novo based on testing 102 mothers of MPS II patients
PMID: 22976768
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
mucopolysaccharidosis type 2Open Targets
0.88Strong
mucopolysaccharidosisOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.53Moderate
mucopolysaccharidosis type 2, severe formOpen Targets
0.51Moderate
mucopolysaccharidosis type 3AOpen Targets
0.40Moderate
mucopolysaccharidosis type 2, attenuated formOpen Targets
0.37Weak
epidermolysis bullosa simplex with nail dystrophyOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.05Suggestive
X-linked hypophosphatemiaOpen Targets
0.04Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
hearing loss, autosomal dominant 87Open Targets
0.04Suggestive
hearing loss, autosomal dominant 86Open Targets
0.04Suggestive
pseudoachondroplasiaOpen Targets
0.04Suggestive
hearing loss, autosomal dominant 85Open Targets
0.04Suggestive
mucopolysaccharidosis type 4AOpen Targets
0.04Suggestive
hearing loss, autosomal dominant 80Open Targets
0.04Suggestive
Thickened earlobes - conductive deafnessOpen Targets
0.04Suggestive
thickened earlobes-conductive deafness syndromeOpen Targets
0.04Suggestive
Mucopolysaccharidosis 2UniProt
Pathogenic Variants794
NM_000202.8(IDS):c.1004A>G (p.His335Arg)Pathogenic
Mucopolysaccharidosis, MPS-II|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 335
NM_000202.8(IDS):c.418+1_418+4delPathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2026
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)Pathogenic
Mucopolysaccharidosis, MPS-II|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_000202.8(IDS):c.1122C>T (p.Gly374=)Pathogenic
Mucopolysaccharidosis, MPS-II|not provided|Nonpapillary renal cell carcinoma|Familial cancer of breast
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_000202.8(IDS):c.401G>A (p.Gly134Glu)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_000202.8(IDS):c.838_842del (p.Asn280fs)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_000202.8(IDS):c.671G>A (p.Gly224Glu)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 224
NM_000202.8(IDS):c.1036G>A (p.Ala346Thr)Likely pathogenic
Mucopolysaccharidosis, MPS-II|not provided|Mucopolysaccharidosis, MPS-III-A
β˜…β˜…β˜†β˜†2025β†’ Residue 346
NM_000202.8(IDS):c.1037C>T (p.Ala346Val)Pathogenic
Mucopolysaccharidosis, MPS-II|Mucopolysaccharidosis, MPS-III-A
β˜…β˜…β˜†β˜†2025β†’ Residue 346
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)Pathogenic
Mucopolysaccharidosis, MPS-II|Mucopolysaccharidosis, MPS-III-A|See cases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 443
NM_000202.8(IDS):c.412C>T (p.His138Tyr)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 138
NM_000202.8(IDS):c.1034G>A (p.Trp345Ter)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 345
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)Pathogenic
Mucopolysaccharidosis, MPS-II|Mucopolysaccharidosis, MPS-III-A
β˜…β˜…β˜†β˜†2025β†’ Residue 480
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 228
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)Pathogenic
Mucopolysaccharidosis, MPS-II|not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_000202.8(IDS):c.323A>G (p.Tyr108Cys)Likely pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 108
NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278delinsAspValTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 278
NM_000202.8(IDS):c.479C>T (p.Pro160Leu)Pathogenic
Mucopolysaccharidosis, MPS-II
β˜…β˜…β˜†β˜†2025β†’ Residue 160
View on ClinVar β†—
Related Genes
SGSHShared pathway100%HPSEProtein interaction90%SUMF1Protein interaction89%GUSBProtein interaction76%IDUAProtein interaction76%HPSE2Protein interaction69%
Tissue Expression6 tissues
Brain
100%
Heart
25%
Ovary
20%
Bone Marrow
15%
Lung
14%
Liver
7%
Gene Interaction Network
Click a node to explore
IDSSGSHHPSESUMF1GUSBIDUAHPSE2
PROTEIN STRUCTURE
Preparing viewer…
PDB5FQL Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.14Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.14]
RankingsWhere IDS stands among ~20K protein-coding genes
  • #4,084of 20,598
    Most Researched116 Β· top quartile
  • #57of 5,498
    Most Pathogenic Variants794 Β· top 5%
  • #173of 17,882
    Most Constrained (LOEUF)0.14 Β· top 1%
Genes detectedIDS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
PMID: 39617925
Hum Genomics Β· 2024
1.00
2
Significance of immediate dentin sealing and flowable resin coating reinforcement for unfilled/lightly filled adhesive systems.
PMID: 33404184
J Esthet Restor Dent Β· 2021
0.90
3
Immediate dentin sealing improves bond strength of indirect restorations.
PMID: 16316797
J Prosthet Dent Β· 2005
0.80
4
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II.
PMID: 29606503
Mol Ther Β· 2018
0.70
5
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
PMID: 22976768
J Inherit Metab Dis Β· 2013
0.60