Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3423
Gene name Gene Name - the full gene name approved by the HGNC.
Iduronate 2-sulfatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDS
Synonyms (NCBI Gene) Gene synonyms aliases
ID2S, MPS2, SIDS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300823 5389 ENSG00000010404
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mucopolysaccharidosis Mucopolysaccharidosis, MPS-II, mucopolysaccharidosis type 2, severe form, Mucopolysaccharidosis, MPS-III-A rs782347729, rs781997631, rs113993946, rs797044671, rs1602745838, rs1557340558, rs1557340233, rs193302907, rs104894853, rs1602725808, rs113993955, rs797044703, rs1602730439, rs886044835, rs1557340280
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N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epidermolysis Bullosa Simplex With Nail Dystrophy epidermolysis bullosa simplex with nail dystrophy N/A N/A ClinVar
Associations from Text Mining Disease 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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