Property Summary

NCBI Gene PubMed Count 94
PubMed Score 59.02
PubTator Score 1108.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
oligodendroglioma 2849 6.59425485892991E-14
malignant mesothelioma 3163 3.91757619010925E-10
atypical teratoid / rhabdoid tumor 4369 2.79748027261264E-9
pilocytic astrocytoma 3086 1.01848858398949E-7
Breast cancer 3099 2.27872891848337E-7
medulloblastoma, large-cell 6234 1.15456917445858E-6
glioblastoma 5572 5.93551994490657E-5
astrocytoma 1493 6.26749571745932E-5
osteosarcoma 7933 1.32197757163041E-4
lung cancer 4473 6.46136664394527E-4
Pick disease 1893 8.53751628486669E-4
sonic hedgehog group medulloblastoma 1482 0.00122499557838262
ependymoma 2514 0.00269311566898851
primitive neuroectodermal tumor 3031 0.00512687038222421
adult high grade glioma 2148 0.00593247859924807
ovarian cancer 8492 0.00622099575360013
Multiple myeloma 1328 0.0186021641494403
subependymal giant cell astrocytoma 2287 0.0243944112671822
spina bifida 1064 0.0315827389285213
aldosterone-producing adenoma 664 0.039338581213183
Disease Target Count Z-score Confidence
Mucopolysaccharidosis 24 0.0 4.0
Disease Target Count
Mucopolysaccharidosis II 5
Disease Target Count
Mucopolysaccharidosis 2 1

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

Synonym

Accession P22304 D3DWT4 Q14604 Q9BRM3
Symbols MPS2
SIDS

Gene

IDS

PANTHER Protein Class (1)

  Ortholog (8)

Species Source
Mouse OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Zebrafish OMA Inparanoid

 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...