Property Summary

NCBI Gene PubMed Count 94
PubMed Score 59.02
PubTator Score 1108.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
Multiple myeloma 1.171 1.9e-02
malignant mesothelioma -6.400 3.9e-10
astrocytoma -3.500 6.3e-05
ependymoma -2.200 2.7e-03
glioblastoma -2.800 5.9e-05
oligodendroglioma -2.100 6.6e-14
osteosarcoma 1.149 1.3e-04
sonic hedgehog group medulloblastoma -2.500 1.2e-03
atypical teratoid / rhabdoid tumor -2.800 2.8e-09
medulloblastoma, large-cell -3.500 1.2e-06
primitive neuroectodermal tumor -1.600 5.1e-03
lung cancer -1.400 6.5e-04
adult high grade glioma -2.100 5.9e-03
pilocytic astrocytoma -1.800 1.0e-07
aldosterone-producing adenoma -1.302 3.9e-02
subependymal giant cell astrocytoma -1.014 2.4e-02
spina bifida -1.103 3.2e-02
Pick disease -2.100 8.5e-04
ovarian cancer -1.300 6.2e-03
Breast cancer -1.100 2.3e-07

 GWAS Trait (1)

Gene RIF (34)

PMID Text
25038527 This study evaluated a novel mutation in the IDS gene among 8 male Hunter syndrome patients; there was a quantitative deficiency of NK and B cell with normal responses in other immune parameters.
24780617 p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation
24125893 30 novel iduronate sulfatase mutations have been identified in mucopolysaccharidosis type II Latin American patients.
23867855 Identification of a splice site mutation in the IDS gene associated with mucopolysaccharidosis type II.
22990955 a novel (p.R468P) and five known (p.R88C, p.D148V, p.G224A, p.Y348X, and p.R468Q) IDS mutations were shown to result in proteins with little or no IDS activity and altered protein processing, when expressed in COS7 cells
22622771 A report of a novel IDS nonsense mutation resulting in mucopolysaccharidosis type II in several patients from a Chinese family.
22492741 genetically analyze patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene
22286622 Two new mutations were discovered: p.K236N (c.708G>C) and p.Q80K (c.238C>A) which resulted in a severe phenotype and early death of Muccopolysaccharridosis Type II patients from Bulgaria and Macedonia.
21593745 LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
21108396 study describes a woman with mild manifestations of Hunter syndrome who gave birth to a daughter; both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene
21062272 Family members with 3 generations of X-inactivation with Hunter syndrome have 1568A>G missence mutation in the IDS gene
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20104590 The in vivo correction of heritable gene lesions at the RNA level operating via a correction mechanism akin to RNA-editing, was observed for IDS mutant transcript.
19933090 The results illustrated that the deletion and frame-shift mutation of c.876-877 del TC detected in IDS gene was a novel pathologic mutation,, which was the underlying cause of MPS II of this patient.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19602578 IDS has a role in glucose-stimulated insulin secretion via a mechanism that involves the activation of exocytosis through phosphorylation of PKCalpha and MARCKS.
18546295 A new mutation, an A>T change at nucleotide 595, substitutes a premature stop codon for a lysine at amino acid 199 of the IDS enzyme.
18500569 Hunter syndrome in Thailand is caused by a diverse set of defects affecting both IDS protein production and activity.
17657858 frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene
17655837 The molecular characterization of one novel missense mutation (p.S305P) and 1 splice site mutation (c.1006 +5G > C) associated with mucopolysaccharidosis type II was presented.
17616540 Identification of a novel nonsense mutation (p.Y54X) in the IDS gene of severely affected MPS II patients of African origin.
17284421 Two novel mutations were identified in the human iduronate-2-sulfatase (IDS) gene in two patients from unrelated families with mucopolysaccharidosis type II(MPS II).
17091340 analysis of iduronate-2-sulfatase enzymatic activity, protein processing and structure
17063374 the IDS gene is prone to splicing mutations in Portuguese patients with mucopolysaccharidosis type II
16735228 A new point mutation (T1140C) in exon 8 of the IDS gene was found in Hunter syndrome.
16699754 The balance between constitutive and cryptic splice sites in the IDS gene is very sensitive.
16617305 These findings suggest methylation patterns in the beginning of IDS genomic region are polymorphic in humans and that hypermethylation in this region in some individuals predisposes them to CpG mutations resulting in Hunter syndrome.
16480701 IDS activity in female carriers was less than a half of the normal level
16133661 The IDS gene was analyzed in Japanese patients with mucopolysaccharidosis II.
15909065 large deletion correlated with the severe phenotype of this Hunter syndrome patient.
15614569 a total of 17 identified missense, small deletion, and nonsense mutations were further characterized by transient expression studies.
15500445 Mucopolysaccharidosis type II patients with sever CNS involvement and age of onset by 3 years of age had four IDS amino acid substitutions S333L,C53X,E341K, and P480R.
15146464 patterns of cytosine methylation in the entire IDS gene
11462244 novel mutations in Italian patients with mucopolysaccharidosis type II

AA Sequence

MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASH      1 - 70
SLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPG     71 - 140
ISSNHTDDSPYSWSFPPYHPSSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLE    141 - 210
KMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALN    211 - 280
ISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALGEHGEWAKYSN    281 - 350
FDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTLAGLAGLQVPP    351 - 420
RCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGY    421 - 490
SIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP              491 - 550
//

Text Mined References (96)

PMID Year Title
25038527 2014 NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
24780617 2014 Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
24125893 2014 Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
23867855 2013 A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.
22990955 2012 Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.
22622771 2012 A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
22492741 2012 Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
22286622 2011 Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
21593745 2011 LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
21108396 2010 A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
21062272 2011 Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
20104590 2010 Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
19933090 2009 [Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19602578 2009 Role of iduronate-2-sulfatase in glucose-stimulated insulin secretion by activation of exocytosis.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18546295 2008 A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
18500569 2008 Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
17657858 2007 A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.
17655837 2007 Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
17616540 2007 Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
17284421 2007 [Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].
17091340 2006 Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
17063374 2006 Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
16735228 2006 [Detection of a new mutation (T1140C)in a Chinese Guangdong patient with hunter syndrome].
16699754 2006 Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
16617305 2006 Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
16480701 2006 Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16133661 2005 Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
15909065 2005 A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
15772651 2005 The DNA sequence of the human X chromosome.
15614569 2005 Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
15500445 2005 Analysis of normal and mutant iduronate-2-sulphatase conformation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146464 2004 General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12794697 2003 Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
12655569 2003 Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11731225 2001 The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
11683780 2001 Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.
11462244 2001 Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11015461 2000 MPS II in females: molecular basis of two different cases.
10838181 2000 Expression of five iduronate-2-sulfatase site-directed mutations.
10737977 2000 Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.
10671065 1998 Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
10447264 1999 Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
10220152 1999 Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
10215411 1998 Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
9950361 1999 Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
9921913 1998 Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
9875019 1998 Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
9762601 1998 Hunter disease in the Spanish population: molecular analysis in 31 families.
9660053 1998 Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
9501270 1998 Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
9452044 1998 Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
9375851 1997 Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
9337875 1997 Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.
9266380 1997 Molecular analysis in 23 Hunter disease families.
9222763 1997 Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
9147653 1997 Molecular and phenotypic variation in patients with severe Hunter syndrome.
8940265 1996 Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
8830188 1996 Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.
8717057 1995 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.
8664909 1996 Mutation analysis in 20 patients with Hunter disease.
8566953 1996 Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
8530090 1995 Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
8528670 1995 Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
8490623 1993 Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.
8364592 1993 Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
8318991 1993 Hunter syndrome: gene deletions and rearrangements.
8281149 1993 Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
8244397 1993 Sequence of the human iduronate 2-sulfatase (IDS) gene.
8111411 1993 Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
7981716 1994 Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
7887413 1995 Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
7866405 1994 Mutation analysis of Jewish Hunter patients in Israel.
7728156 1995 Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
7599640 1995 Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
7581397 1995 Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
6418082 1983 Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
3104200 1987 Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.
2222422 1990 Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties.
2122463 1990 Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
1906048 1991 The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
1901826 1991 Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
1639384 1992 Detection of point mutations and a gross deletion in six Hunter syndrome patients.
1550586 1992 Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
1355630 1992 Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
1303211 1992 Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
1284597 1992 Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.