Property Summary

NCBI Gene PubMed Count 94
Grant Count 36
R01 Count 8
Funding $5,092,566.08
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 0.019
malignant mesothelioma -6.400 0.000
astrocytoma -3.500 0.000
ependymoma -2.200 0.003
glioblastoma -2.800 0.000
oligodendroglioma -2.100 0.000
osteosarcoma 1.149 0.000
sonic hedgehog group medulloblastoma -2.500 0.001
atypical teratoid / rhabdoid tumor -2.800 0.000
medulloblastoma, large-cell -3.500 0.000
primitive neuroectodermal tumor -1.600 0.005
lung cancer -1.400 0.001
adult high grade glioma -2.100 0.006
pilocytic astrocytoma -1.800 0.000
aldosterone-producing adenoma -1.302 0.039
subependymal giant cell astrocytoma -1.014 0.024
spina bifida -1.103 0.032
Pick disease -2.100 0.001
ovarian cancer -1.300 0.006
Breast cancer -1.100 0.000

 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
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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.
More...