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IDS (iduronate 2-sulfatase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3423
Gene nameGene Name - the full gene name approved by the HGNC.
Iduronate 2-sulfatase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IDS
SynonymsGene synonyms aliases
ID2S, MPS2, SIDS
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 21873635
GO:0004423 Function Iduronate-2-sulfatase activity IDA 10838181
GO:0005509 Function Calcium ion binding IDA 28593992
GO:0005764 Component Lysosome IDA 10838181
GO:0006027 Process Glycosaminoglycan catabolic process IDA 28593992
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 550
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Glycosaminoglycan degradation
Metabolic pathways
Lysosome
  HS-GAG degradation
CS/DS degradation
MPS II - Hunter syndrome
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Intestinal pseudoobstruction Intestinal Pseudo-Obstruction rs587776966, rs765907815
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 27935865
Unknown
Disease name Disease term dbSNP ID References
Congenital exomphalos Congenital exomphalos
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Dolichocephaly Long narrow head
Dwarfism Dwarfism

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