Gene Gene information from NCBI Gene database.
Entrez ID 3423
Gene name Iduronate 2-sulfatase
Gene symbol IDS
Synonyms (NCBI Gene)
ID2SMPS2SIDS
Chromosome X
Chromosome location Xq28
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. Mutati
SNPs SNP information provided by dbSNP.
97
SNP ID Visualize variation Clinical significance Consequence
rs61736892 G>A Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, non coding transcript variant, missense variant
rs104894853 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs104894856 G>C,T Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs104894860 G>A,T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs104894861 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
713
miRTarBase ID miRNA Experiments Reference
MIRT021420 hsa-miR-9-5p Microarray 17612493
MIRT023349 hsa-miR-122-5p Microarray 17612493
MIRT025141 hsa-miR-181a-5p Microarray 17612493
MIRT051099 hsa-miR-16-5p CLASH 23622248
MIRT043693 hsa-miR-342-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004423 Function Iduronate-2-sulfatase activity IBA
GO:0004423 Function Iduronate-2-sulfatase activity IDA 10838181
GO:0004423 Function Iduronate-2-sulfatase activity IEA
GO:0004423 Function Iduronate-2-sulfatase activity TAS 2122463
GO:0005509 Function Calcium ion binding IDA 28593992
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300823 5389 ENSG00000010404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22304
Protein name Iduronate 2-sulfatase (EC 3.1.6.13) (Alpha-L-iduronate sulfate sulfatase) (Idursulfase) [Cleaved into: Iduronate 2-sulfatase 42 kDa chain; Iduronate 2-sulfatase 14 kDa chain]
Protein function Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate.
PDB 5FQL , 6IOZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 37 416 Sulfatase Family
Tissue specificity TISSUE SPECIFICITY: Liver, kidney, lung, and placenta.
Sequence
Sequence length 550
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan degradation
Metabolic pathways
Lysosome
  HS-GAG degradation
CS/DS degradation
MPS II - Hunter syndrome
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial cancer of breast Likely pathogenic; Pathogenic rs113993948 RCV005887425
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IDS-related disorder Likely pathogenic; Pathogenic rs2520895871 RCV003420582
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis type 2, severe form Pathogenic rs113993946 RCV000011244
RCV000011246
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis, MPS-II Pathogenic; Likely pathogenic rs2124065847, rs2123994961, rs2123994237, rs2124020573, rs2124042006, rs2123994946, rs2123994508, rs2124063133, rs2123994213, rs2089450305, rs2124041510, rs2124065955, rs2124648374, rs2124063287, rs2124648301
View all (245 more)
RCV001375631
RCV001375672
RCV001375673
RCV001375842
RCV001375843
View all (285 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Albinism Albinism BEFREE 21706504
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28983260
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 30017909
★☆☆☆☆
Found in Text Mining only
Asthma Asthma HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28727482
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31574977
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 15851440
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30210049
★☆☆☆☆
Found in Text Mining only
Carnitine-Acylcarnitine Translocase Deficiency Carnitine-Acylcarnitine Translocase Deficiency BEFREE 10653336
★☆☆☆☆
Found in Text Mining only