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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
991
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely pathogenic; Pathogenic rs113993948 RCV005887425
IDS-related disorder Likely pathogenic; Pathogenic rs2520895871 RCV003420582
Mucopolysaccharidosis type 2, severe form Pathogenic rs113993946 RCV000011244
RCV000011246
Mucopolysaccharidosis, MPS-II Pathogenic; Likely pathogenic rs2124065847, rs2123994961, rs2123994237, rs2124020573, rs2124042006, rs2123994946, rs2123994508, rs2124063133, rs2123994213, rs2089450305, rs2124041510, rs2124065955, rs2124648374, rs2124063287, rs2124648301
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RCV001375873
RCV001376069
RCV001376687
RCV001376692
RCV001376698
RCV001376699
RCV001378371
RCV001382697
RCV001382698
RCV001380492
RCV001385741
RCV001385540
RCV001390470
RCV001387354
RCV004596474
RCV001783453
RCV001782283
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RCV001787248
RCV001837738
RCV002018949
RCV001907249
RCV001965495
RCV001946683
RCV001950793
RCV001970097
RCV001949645
RCV001941568
RCV002040570
RCV002016564
RCV002017626
RCV001959968
RCV001912365
RCV002250054
RCV004596531
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RCV002289443
RCV002290134
RCV002290136
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RCV002308593
RCV002306695
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RCV002307140
RCV002307265
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RCV003098851
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RCV002467471
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RCV004596097
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RCV004596100
RCV002811323
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RCV002814703
RCV002862951
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RCV000205679
RCV004596148
RCV000205510
RCV000204452
RCV000204392
RCV000206113
RCV000205196
RCV000205483
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RCV000204551
RCV000205838
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RCV000204006
RCV000206667
RCV000204759
RCV000204366
RCV000206848
RCV000205759
RCV000206626
RCV000206790
RCV000206485
RCV000207439
RCV000207401
RCV000207405
RCV000207409
RCV000207368
RCV000207366
RCV000207376
RCV000207427
RCV000207419
RCV000207434
RCV004596571
RCV003128100
RCV003140673
RCV003140684
RCV003140688
RCV003146124
RCV003146127
RCV003146131
RCV003146134
RCV003146137
RCV003146139
RCV003146149
RCV003146153
RCV003156044
RCV003156048
RCV003222542
RCV000011232
RCV000011233
RCV000011234
RCV000011235
RCV000011236
RCV000011237
RCV000011239
RCV000011240
RCV000011241
RCV000011242
RCV000180471
RCV000180473
RCV002512968
RCV004595879
RCV000011247
RCV000811810
RCV001775755
RCV003314493
RCV003340838
RCV003447459
RCV003510469
RCV003509081
RCV003509082
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RCV003622689
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RCV004595186
RCV004596149
RCV001376700
RCV000499707
RCV004596233
RCV000548295
RCV002291502
RCV004596300
RCV004596301
RCV000625940
RCV000632181
RCV000632180
RCV000632182
RCV001385541
RCV000689901
RCV000691787
RCV004596332
RCV000781473
RCV000781472
RCV000780348
RCV000790552
RCV000790551
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RCV000790549
RCV000790548
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RCV000790546
RCV000790545
RCV000790544
RCV000810354
RCV000818958
RCV000823054
RCV000990963
RCV001003052
RCV001007857
RCV001035366
RCV001041100
RCV001057510
RCV001066509
RCV001059349
RCV001089580
RCV001089581
RCV001216955
RCV001220532
RCV001222779
RCV001216081
RCV001243493
RCV001254818
RCV001568370
RCV001291028
RCV001291027
RCV001291026
RCV001291025
RCV004596436
RCV001291023
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RCV001291021
RCV001291020
RCV001291019
RCV001291018
RCV001291017
RCV001291016
RCV001291015
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RCV001291013
RCV001291032
RCV001291012
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RCV001291010
RCV001291009
RCV001291008
RCV001291007
RCV001291006
RCV001291005
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RCV001291003
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RCV001291001
RCV001291000
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RCV001291030
RCV001290992
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RCV001291029
RCV001290989
RCV001553790
RCV001291035
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RCV001563681
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RCV001564020
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RCV001568369
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RCV001568384
RCV004526612
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epidermolysis bullosa simplex with nail dystrophy Uncertain significance rs781916566 RCV001089666
History of neurodevelopmental disorder Uncertain significance rs1569560492 RCV000719615
Ovarian serous cystadenocarcinoma Likely benign rs1141608 RCV005911244
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 39303318
Developmental Disabilities Associate 23634718
Dwarfism stiff joint ocular abnormalities Associate 31046699
Fabry Disease Associate 22052522
Fractures Spontaneous Associate 32157568
Fragile X Syndrome Associate 1671806
Gaucher Disease Associate 35568060
Hemophilia B Associate 30264515
Mucopolysaccharidosis I Associate 31046699
Mucopolysaccharidosis II Associate 10580346, 17657858, 21605424, 21829674, 22052522, 23634718, 23800320, 25902842, 27187040, 27789394, 27789398, 27789399, 28077157, 28593992, 30042467
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