IDS Gene (Iduronate 2-Sulfatase)
Genetic and Functional Insights into IDS, the Gene Associated with Hunter Syndrome (MPS II)
Gene Information Card
| Symbol | IDS |
|---|---|
| Full Name | Iduronate 2-Sulfatase |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 3423 ncbi.nlm.nih.gov/gene/3423 |
| Ensembl ID | ENSG00000010404 |
| UniProt ID | P22304 |
| OMIM ID | 300823 |
| HGNC ID | 5389 |
| Aliases | MPS2, SIDS, ID2S |
Description
The IDS gene encodes iduronate 2-sulfatase, a lysosomal enzyme that catalyzes the hydrolysis of 2-sulfate groups from the glycosaminoglycans dermatan sulfate and heparan sulfate. This step is essential for the degradation of these molecules. Mutations in IDS cause mucopolysaccharidosis type II (Hunter syndrome), an X-linked recessive lysosomal storage disorder characterized by progressive accumulation of glycosaminoglycans in tissues, leading to multi-systemic involvement including skeletal abnormalities, organomegaly, neurological decline, and shortened lifespan.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucopolysaccharidosis type II (Hunter syndrome) | Loss-of-function mutations in IDS lead to deficient iduronate 2-sulfatase activity, causing accumulation of dermatan and heparan sulfate in lysosomes. | ClinVar, OMIM #309900 |
| Mucopolysaccharidosis type II, attenuated form | Partial enzyme activity due to missense mutations results in milder, later-onset phenotype with less neurological involvement. | ClinVar, OMIM #309900 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.5 | Low |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| A549 | 8.9 | Lung carcinoma cell line |
| HEK 293 | 7.3 | Embryonic kidney cell line |
| K-562 | 6.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1402C>T (p.Arg468Trp) | Missense | Common | Reduced enzyme activity; associated with attenuated Hunter syndrome |
| c.1122C>T (p.Arg374Ter) | Nonsense | Frequent | Premature stop; complete loss of function; severe phenotype |
| c.998C>T (p.Ser333Leu) | Missense | Recurrent | Partial activity; attenuated form |
| c.1037T>C (p.Leu346Pro) | Missense | Rare | Severe loss of function; early-onset disease |
Mutation functional classification
Loss of Function (LOF)
Most IDS mutations result in loss of enzyme function, leading to substrate accumulation and Hunter syndrome. Nonsense, frameshift, and large deletions typically cause severe, early-onset disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IDS.
Dominant Negative (DN)
No dominant-negative effects are described; IDS is X-linked and hemizygous males are fully affected.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Glycosaminoglycan degradation (KEGG: hsa00531)']
• ['Lysosome (KEGG: hsa04142)']
• ['Mucopolysaccharidosis (Reactome: R-HSA-1660662)']
Protein Summary
Iduronate 2-sulfatase (UniProt P22304) is a 550-amino-acid lysosomal enzyme synthesized as a precursor that undergoes post-translational processing, including glycosylation and proteolytic cleavage, to generate the mature active form. The enzyme requires calcium for activity and specifically removes 2-O-sulfate groups from iduronic acid residues in dermatan sulfate and heparan sulfate. Deficiency leads to lysosomal storage of these glycosaminoglycans, causing cellular dysfunction and tissue damage characteristic of Hunter syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IDS Knockout HEK293 Cell Line | EDJ-KQ4973 | Human | 3423 | Details Get a Quote |
| IDS Knockout HeLa Cell Line | EDJ-KQ26635 | Human | 3423 | Details Get a Quote |
| IDS Knockout A-549 Cell Line | EDJ-KQ27855 | Human | 3423 | Details Get a Quote |
| IDS Knockout HCT 116 Cell Line | EDJ-KQ27856 | Human | 3423 | Details Get a Quote |
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