Mus musculus Gene: Ids
Summary
InnateDB Gene IDBG-149987.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ids
Gene Name iduronate 2-sulfatase
Synonyms AW214631
Species Mus musculus
Ensembl Gene ENSMUSG00000035847
Encoded Proteins
iduronate 2-sulfatase
iduronate 2-sulfatase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000010404:
Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence similarity with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2009]
The protein encoded by this gene belongs to the sulfatase family, is localized to the lysosome, and is involved in lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease, mucopolysaccharidosis type II, also known as Hunter syndrome. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome X:70343069-70365084
Strand Reverse strand
Band A7.2
Transcripts
ENSMUST00000101509 ENSMUSP00000099046
ENSMUST00000130519 ENSMUSP00000118732
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004423 iduronate-2-sulfatase activity
GO:0005515 protein binding
GO:0008484 sulfuric ester hydrolase activity
GO:0046872 metal ion binding
Biological Process
GO:0008152 metabolic process
Cellular Component
GO:0005764 lysosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Glycosaminoglycan metabolism pathway
Disease pathway
HS-GAG degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
CS/DS degradation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
CS/DS degradation pathway
HS-GAG degradation pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt Q08890
TrEMBL Q8CJ15
UniProt Splice Variant
Entrez Gene 15931
UniGene Mm.233083 Mm.393516 Mm.409144
RefSeq NM_010498 XM_006527846
OMIM
CCDS CCDS40996
HPRD
IMGT
MGI ID MGI:96417
MGI Symbol Ids
EMBL AF538870 AK166178 BN000750 BX294168 L07921
GenPept AAA37880 AAN16453 BAE38612 CAI84996 CAM20128
RNA Seq Atlas 15931