IDS (iduronate 2-sulfatase)

2016-10-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
ID2S,MPS2,SIDS
FUSION GENES

Other Information

Locus ID:

NCBI: 3423
MIM: 300823
HGNC: 5389
Ensembl: ENSG00000010404

Variants:

dbSNP: 3423
ClinVar: 3423
TCGA: ENSG00000010404
COSMIC: IDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000010404ENST00000340855P22304
ENSG00000010404ENST00000370441P22304
ENSG00000010404ENST00000428056O60597
ENSG00000010404ENST00000464251H0YB91
ENSG00000010404ENST00000466323P22304
ENSG00000010404ENST00000521702E5RHJ1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Dermatan sulfate degradationKEGGhsa_M00076
Heparan sulfate degradationKEGGhsa_M00078
Dermatan sulfate degradationKEGGM00076
Heparan sulfate degradationKEGGM00078
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
285939922017Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.13
272461102016Molecular 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.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
164807012006Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.10
161336612005Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.8
170913402006Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.8
241258932014Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.8
271469772016Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.8
185005692008Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.7

Citation

Dessen P

IDS (iduronate 2-sulfatase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56288/ids