Details for: IDS

Gene ID: 3423

Symbol: IDS

Ensembl ID: ENSG00000010404

Description: iduronate 2-sulfatase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 144.2182
    Cell Significance Index: -36.5800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 130.3854
    Cell Significance Index: -52.9700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 120.9220
    Cell Significance Index: -57.0900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 111.9589
    Cell Significance Index: -57.5900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 85.5411
    Cell Significance Index: -57.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 55.7847
    Cell Significance Index: -53.2600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 45.1354
    Cell Significance Index: -55.6500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 24.9198
    Cell Significance Index: -76.5400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.7973
    Cell Significance Index: -39.6400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.2852
    Cell Significance Index: -56.3700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.1057
    Cell Significance Index: -17.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 6.1679
    Cell Significance Index: 3851.6600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 4.6044
    Cell Significance Index: 35.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.3161
    Cell Significance Index: 174.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8009
    Cell Significance Index: 561.8600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.3250
    Cell Significance Index: 833.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.0186
    Cell Significance Index: 76.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.0130
    Cell Significance Index: 89.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5093
    Cell Significance Index: 245.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1732
    Cell Significance Index: 144.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1309
    Cell Significance Index: 203.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.9311
    Cell Significance Index: 19.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9220
    Cell Significance Index: 56.6700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7977
    Cell Significance Index: 86.7700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6833
    Cell Significance Index: 8.4800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6534
    Cell Significance Index: 89.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5901
    Cell Significance Index: 45.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5795
    Cell Significance Index: 316.4700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5346
    Cell Significance Index: 15.7000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5313
    Cell Significance Index: 9.8200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4116
    Cell Significance Index: 3.7900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3959
    Cell Significance Index: 11.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3620
    Cell Significance Index: 42.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3442
    Cell Significance Index: 44.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2849
    Cell Significance Index: 125.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2617
    Cell Significance Index: 12.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2155
    Cell Significance Index: 41.0200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1926
    Cell Significance Index: 4.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1634
    Cell Significance Index: 8.4900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1426
    Cell Significance Index: 10.6300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1142
    Cell Significance Index: 5.9500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0877
    Cell Significance Index: 5.6500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0045
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0054
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0153
    Cell Significance Index: -11.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0235
    Cell Significance Index: -3.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0268
    Cell Significance Index: -19.6800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0297
    Cell Significance Index: -55.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0348
    Cell Significance Index: -31.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0368
    Cell Significance Index: -67.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0395
    Cell Significance Index: -29.8900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0427
    Cell Significance Index: -1.5000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0438
    Cell Significance Index: -67.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0469
    Cell Significance Index: -3.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0495
    Cell Significance Index: -67.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0575
    Cell Significance Index: -9.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0580
    Cell Significance Index: -1.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0626
    Cell Significance Index: -35.2900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0634
    Cell Significance Index: -6.4800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0795
    Cell Significance Index: -16.7400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0879
    Cell Significance Index: -55.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1005
    Cell Significance Index: -9.9400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1225
    Cell Significance Index: -3.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1292
    Cell Significance Index: -58.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1296
    Cell Significance Index: -25.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1862
    Cell Significance Index: -8.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1994
    Cell Significance Index: -57.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2108
    Cell Significance Index: -24.1500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2118
    Cell Significance Index: -5.6700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3547
    Cell Significance Index: -41.3400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3895
    Cell Significance Index: -56.6200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3974
    Cell Significance Index: -8.5000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.4550
    Cell Significance Index: -6.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4723
    Cell Significance Index: -13.2000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5291
    Cell Significance Index: -11.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5298
    Cell Significance Index: -37.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5495
    Cell Significance Index: -57.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5647
    Cell Significance Index: -31.6900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5747
    Cell Significance Index: -12.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6511
    Cell Significance Index: -51.5700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6726
    Cell Significance Index: -15.5400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6807
    Cell Significance Index: -13.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7011
    Cell Significance Index: -44.1900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7551
    Cell Significance Index: -15.1600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.7912
    Cell Significance Index: -36.8900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.8070
    Cell Significance Index: -54.2600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8242
    Cell Significance Index: -26.2500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.8466
    Cell Significance Index: -18.2900
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.8839
    Cell Significance Index: -8.4100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.8853
    Cell Significance Index: -11.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.8855
    Cell Significance Index: -15.1800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9172
    Cell Significance Index: -30.0300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9325
    Cell Significance Index: -57.1700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.0688
    Cell Significance Index: -27.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0736
    Cell Significance Index: -28.2300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.1059
    Cell Significance Index: -35.4200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.1370
    Cell Significance Index: -14.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1986
    Cell Significance Index: -41.9900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.2357
    Cell Significance Index: -45.3600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -1.2552
    Cell Significance Index: -31.3100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IDS is a lysosomal enzyme that belongs to the alpha-N-acetylgalactosaminidase family. It is a tetrameric enzyme composed of two alpha subunits and two beta subunits. The enzyme catalyzes the hydrolysis of dermatan sulfate and heparan sulfate, converting them into their corresponding sulfates. IDS has a molecular weight of approximately 200 kDa and is localized to the lysosomal lumen. **Pathways and Functions:** IDS is involved in the degradation of dermatan sulfate and heparan sulfate, which are essential components of the extracellular matrix and cell surfaces. The enzyme plays a crucial role in maintaining the balance of these molecules, which is essential for various physiological processes, including: 1. Cell signaling: IDS helps regulate the activity of growth factors and cytokines by degrading their sulfated forms. 2. Extracellular matrix maintenance: IDS degradation products are involved in the formation and remodeling of the extracellular matrix. 3. Cell adhesion: IDS helps regulate the adhesion of cells to each other and to the extracellular matrix. **Clinical Significance:** IDS deficiency leads to the accumulation of dermatan sulfate and heparan sulfate, resulting in the development of mucopolysaccharidoses (MPS). MPS type I, also known as Hunter syndrome, is caused by a deficiency in IDS and is characterized by: 1. Physical impairments: Short stature, joint problems, and coarsened facial features. 2. Cognitive impairments: Intellectual disability and delayed cognitive development. 3. Respiratory problems: Chronic respiratory infections and decreased lung function. 4. Cardiovascular problems: Increased risk of cardiovascular disease. Treatment options for IDS deficiency include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). ERT involves the administration of recombinant IDS enzyme to replace the deficient enzyme, while HSCT involves the transplantation of hematopoietic stem cells that produce the IDS enzyme. In conclusion, IDS plays a crucial role in the degradation of dermatan sulfate and heparan sulfate, and its deficiency leads to the development of mucopolysaccharidoses. Understanding the mechanisms of IDS and its clinical significance is essential for the development of effective treatments for these diseases.

Genular Protein ID: 296334650

Symbol: IDS_HUMAN

Name: Iduronate 2-sulfatase

UniProtKB Accession Codes:

P22304 D3DWT4 Q14604 Q9BRM3

Database IDs:

AGR 1 Allergome 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 26 Ensembl 3 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2122463

Title: Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

PubMed ID: 2122463

DOI: 10.1073/pnas.87.21.8531

PubMed ID: 8244397

Title: Sequence of the human iduronate 2-sulfatase (IDS) gene.

PubMed ID: 8244397

DOI: 10.1006/geno.1993.1406

PubMed ID: 8717057

Title: 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.

PubMed ID: 8717057

DOI: 10.1101/gr.5.1.71

PubMed ID: 8530090

Title: Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.

PubMed ID: 8530090

DOI: 10.1006/geno.1995.1249

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8490623

Title: Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.

PubMed ID: 8490623

DOI: 10.1093/hmg/2.1.5

PubMed ID: 8111411

Title: Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

PubMed ID: 8111411

DOI: 10.1002/humu.1380020603

PubMed ID: 7626005

Title: Processing of iduronate 2-sulphatase in human fibroblasts.

PubMed ID: 7626005

DOI: 10.1042/bj3090425

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 28593992

Title: Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

PubMed ID: 28593992

DOI: 10.1038/ncomms15786

PubMed ID: 1303211

Title: Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

PubMed ID: 1303211

DOI: 10.1093/hmg/1.5.335

PubMed ID: 1284597

Title: Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

PubMed ID: 1284597

DOI: 10.1093/hmg/1.9.755

PubMed ID: 8281149

Title: Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

PubMed ID: 8281149

DOI: 10.1093/hmg/2.11.1871

PubMed ID: 7981716

Title: Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).

PubMed ID: 7981716

DOI: 10.1002/humu.1380040206

PubMed ID: 7866405

Title: Mutation analysis of Jewish Hunter patients in Israel.

PubMed ID: 7866405

DOI: 10.1002/humu.1380040406

PubMed ID: 7887413

Title: Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

PubMed ID: 7887413

PubMed ID: 7728156

Title: Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

PubMed ID: 7728156

DOI: 10.1002/humu.1380050114

PubMed ID: 7581397

Title: Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

PubMed ID: 7581397

DOI: 10.1002/humu.1380060206

PubMed ID: 7599640

Title: Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

PubMed ID: 7599640

DOI: 10.1002/humu.1380050314

PubMed ID: 8940265

Title: Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene.

PubMed ID: 8940265

PubMed ID: 8566953

Title: Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

PubMed ID: 8566953

DOI: 10.1007/bf02265265

PubMed ID: 8664909

Title: Mutation analysis in 20 patients with Hunter disease.

PubMed ID: 8664909

DOI: 10.1002/(sici)1098-1004(1996)7:1<76::aid-humu14>3.0.co;2-p

PubMed ID: 8830188

Title: Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.

PubMed ID: 8830188

DOI: 10.1007/bf01799358

PubMed ID: 9222763

Title: Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.

PubMed ID: 9222763

DOI: 10.1002/(sici)1098-1004(1997)10:1<71::aid-humu10>3.0.co;2-x

PubMed ID: 9375851

Title: 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.

PubMed ID: 9375851

DOI: 10.1002/(sici)1098-1004(1997)10:5<361::aid-humu5>3.0.co;2-i

PubMed ID: 9266380

Title: Molecular analysis in 23 Hunter disease families.

PubMed ID: 9266380

DOI: 10.1023/a:1005335624386

PubMed ID: 9875019

Title: Mutation analysis in 57 unrelated patients with MPS II.

PubMed ID: 9875019

DOI: 10.1136/adc.79.3.237

PubMed ID: 9660053

Title: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

PubMed ID: 9660053

DOI: 10.1111/j.1399-0004.1998.tb02746.x

PubMed ID: 9921913

Title: Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.

PubMed ID: 9921913

DOI: 10.1007/s004390050901

PubMed ID: 10215411

Title: Detection of four novel mutations in the iduronate-2-sulfatase gene.

PubMed ID: 10215411

PubMed ID: 9452044

Title: Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.

PubMed ID: 9452044

DOI: 10.1002/humu.1380110123

PubMed ID: 10671065

Title: Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients.

PubMed ID: 10671065

DOI: 10.1002/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co;2-m

PubMed ID: 9501270

Title: Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

PubMed ID: 9501270

DOI: 10.1023/a:1005363414792

PubMed ID: 9762601

Title: Hunter disease in the Spanish population: molecular analysis in 31 families.

PubMed ID: 9762601

DOI: 10.1023/a:1005432600871

PubMed ID: 10220152

Title: Identification of 6 new mutations in the iduronate sulfatase gene.

PubMed ID: 10220152

DOI: 10.1002/(sici)1098-1004(1999)13:4<338::aid-humu15>3.0.co;2-3

PubMed ID: 10447264

Title: Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations.

PubMed ID: 10447264

PubMed ID: 9950361

Title: Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

PubMed ID: 9950361

PubMed ID: 10838181

Title: Expression of five iduronate-2-sulfatase site-directed mutations.

PubMed ID: 10838181

DOI: 10.1016/s0925-4439(00)00006-5

PubMed ID: 11015461

Title: MPS II in females: molecular basis of two different cases.

PubMed ID: 11015461

DOI: 10.1136/jmg.37.10.e29

PubMed ID: 11731225

Title: The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.

PubMed ID: 11731225

DOI: 10.1016/s0925-4439(01)00075-8

PubMed ID: 11683780

Title: Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.

PubMed ID: 11683780

DOI: 10.1034/j.1399-0004.2001.600412.x

PubMed ID: 12794697

Title: Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

PubMed ID: 12794697

DOI: 10.1002/ajmg.a.10215

PubMed ID: 12655569

Title: Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

PubMed ID: 12655569

DOI: 10.1002/humu.9128

PubMed ID: 16699754

Title: Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

PubMed ID: 16699754

DOI: 10.1007/s00109-006-0057-1

Sequence Information:

  • Length: 550
  • Mass: 61873
  • Checksum: EA1B713417280413
  • Sequence:
    • MPPPRTGRGL LWLGLVLSSV CVALGSETQA NSTTDALNVL LIIVDDLRPS LGCYGDKLVR 
SPNIDQLASH SLLFQNAFAQ QAVCAPSRVS FLTGRRPDTT RLYDFNSYWR VHAGNFSTIP 
QYFKENGYVT MSVGKVFHPG ISSNHTDDSP YSWSFPPYHP SSEKYENTKT CRGPDGELHA 
NLLCPVDVLD VPEGTLPDKQ STEQAIQLLE KMKTSASPFF LAVGYHKPHI PFRYPKEFQK 
LYPLENITLA PDPEVPDGLP PVAYNPWMDI RQREDVQALN ISVPYGPIPV DFQRKIRQSY 
FASVSYLDTQ VGRLLSALDD LQLANSTIIA FTSDHGWALG EHGEWAKYSN FDVATHVPLI 
FYVPGRTASL PEAGEKLFPY LDPFDSASQL MEPGRQSMDL VELVSLFPTL AGLAGLQVPP 
RCPVPSFHVE LCREGKNLLK HFRFRDLEED PYLPGNPREL IAYSQYPRPS DIPQWNSDKP 
SLKDIKIMGY SIRTIDYRYT VWVGFNPDEF LANFSDIHAG ELYFVDSDPL QDHNMYNDSQ 
GGDLFQLLMP

Genular Protein ID: 882054377

Symbol: B4DGD7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DGD7

Database IDs:

ARBA 4 Allergome 1 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 460
  • Mass: 52421
  • Checksum: 50CBD459929EDE44
  • Sequence:
    • MPLRRRPDTT RLYDFNSYWR VHAGNFSTIP QYFKENGYVT MSVGKVFHPG ISSNHTDDSP 
YSWSFPPYHP SSEKYENTKT CRGPDGELHA NLLCPVDVLD VPEGTLPDKQ STEQAIQLLE 
KMKTSASPFF LAVGYHKPHI PFRYPKEFQK LYPLENITLA PDPEVPDGLP PVAYNPWMDI 
RQREDVQALN ISVPYGPIPV DFQRKIRQSY FASVSYLDTQ VGRLLSALDD LQLANSTIIA 
FTSDHGWALG EHGEWAKYSN FDVATHVPLI FYVPGRTASL PEAGEKLFPY LDPFDSASQL 
MEPGRQSMDL VELVSLFPTL AGLAGLQVPP RCPVPSFHVE LCREGKNLLK HFRFRDLEED 
PYLPGNPREL IAYSQYPRPS DIPQWNSDKP SLKDIKIMGY SIRTIDYRYT VWVGFNPDEF 
LANFSDIHAG ELYFVDSDPL QDHNMYNDSQ GGDLFQLLMP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.