Details for: IDS

Gene ID: 3423

Symbol: IDS

Ensembl ID: ENSG00000010404

Description: iduronate 2-sulfatase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 4.64
    Marker Score: 13107
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.32
    Marker Score: 15366
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 2.89
    Marker Score: 8112.5
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.7
    Marker Score: 3256
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 2.62
    Marker Score: 1591
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.56
    Marker Score: 1808.5
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 2.56
    Marker Score: 10615
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.47
    Marker Score: 49214
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.41
    Marker Score: 2276
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 2.39
    Marker Score: 7547
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.39
    Marker Score: 4949
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.36
    Marker Score: 4788
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 2.32
    Marker Score: 9967.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.32
    Marker Score: 87932
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.3
    Marker Score: 22770
  • Cell Name: PP cell (CL0000696)
    Fold Change: 2.27
    Marker Score: 512
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.24
    Marker Score: 33560
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.22
    Marker Score: 17049.5
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.22
    Marker Score: 3263
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.17
    Marker Score: 79894.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.16
    Marker Score: 8959
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 2.14
    Marker Score: 1880
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 2.13
    Marker Score: 735
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 2.11
    Marker Score: 851
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.05
    Marker Score: 19239
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.03
    Marker Score: 756
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 2.02
    Marker Score: 1468
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.02
    Marker Score: 7808
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.01
    Marker Score: 123667.5
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 2.01
    Marker Score: 4894
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 2
    Marker Score: 1027
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 1.98
    Marker Score: 851
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.91
    Marker Score: 5288
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 1.91
    Marker Score: 1177
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.88
    Marker Score: 1363.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.86
    Marker Score: 17710
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.85
    Marker Score: 16053
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.84
    Marker Score: 2120
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1.84
    Marker Score: 1347
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 1.82
    Marker Score: 1531
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.81
    Marker Score: 15537
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.79
    Marker Score: 10860.5
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.78
    Marker Score: 521
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.76
    Marker Score: 1059
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.75
    Marker Score: 1820.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.74
    Marker Score: 4378
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.73
    Marker Score: 91737
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.72
    Marker Score: 720
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 1.68
    Marker Score: 1085
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 1.68
    Marker Score: 1570
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.67
    Marker Score: 1267
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.67
    Marker Score: 864
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.66
    Marker Score: 1409
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.66
    Marker Score: 1632
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.65
    Marker Score: 1123
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.64
    Marker Score: 1782
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.64
    Marker Score: 91599
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.63
    Marker Score: 41804
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.63
    Marker Score: 1081
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.63
    Marker Score: 3090.5
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.62
    Marker Score: 1521
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.59
    Marker Score: 1420.5
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 1.59
    Marker Score: 1301
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.57
    Marker Score: 53495.5
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.56
    Marker Score: 552
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.55
    Marker Score: 482
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.54
    Marker Score: 2383
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.53
    Marker Score: 1113.5
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.52
    Marker Score: 3747.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.52
    Marker Score: 32512.5
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.52
    Marker Score: 1190
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 1.51
    Marker Score: 1344
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.5
    Marker Score: 1803
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 1.49
    Marker Score: 316
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 1.47
    Marker Score: 1585
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.47
    Marker Score: 19698
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 1.46
    Marker Score: 1106
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.46
    Marker Score: 608
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.46
    Marker Score: 9303.5
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.45
    Marker Score: 16906
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.43
    Marker Score: 453
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.43
    Marker Score: 7490
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.42
    Marker Score: 339.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.42
    Marker Score: 1211
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 1.4
    Marker Score: 629
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.4
    Marker Score: 18564.5
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 1.4
    Marker Score: 303.5
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.38
    Marker Score: 1271
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 1.38
    Marker Score: 477
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 1.38
    Marker Score: 315.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.38
    Marker Score: 376
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.37
    Marker Score: 3683
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.36
    Marker Score: 759
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.36
    Marker Score: 2648
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 1.35
    Marker Score: 779
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 1.35
    Marker Score: 1204
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.34
    Marker Score: 1898.5
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.34
    Marker Score: 922
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.33
    Marker Score: 467
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 1.33
    Marker Score: 327.5

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * The protein is a glycoprotein with a molecular weight of approximately 100 kDa. * It is expressed in high levels in the liver and other tissues with high levels of glycosaminoglycans, such as the skin, cartilage, and synovial fluid. * It is a key enzyme in the degradation of iduronate, and its activity is highly regulated. **Pathways and functions:** * The protein is involved in the regulation of calcium ion levels in the cell. * It also plays a role in the degradation of chondroitin sulfate, a proteoglycan that is a precursor to glycosaminoglycans. * It is involved in the regulation of the immune response, and its activity is increased in inflammatory diseases. **Clinical significance:** * Mutations in the IDS gene have been linked to a number of human diseases, including Mucopolysaccharidoses, a group of disorders that cause the buildup of glycosaminoglycans in the joints and other tissues. * Iduronate 2-sulfatase deficiency can lead to a buildup of iduronate in the body, which can cause a variety of symptoms, including joint pain, stiffness, and swelling. * Drugs that block the activity of iduronate 2-sulfatase have been developed as treatments for Mucopolysaccharidoses and other disorders caused by this enzyme. **Additional notes:** * The IDS gene is located on chromosome 15q21.1. * It is a highly conserved gene, with a similar gene found in mice and rats. * It is a key enzyme in the metabolism of iduronate, a sugar nucleotide that is a product of the degradation of glycosaminoglycans.

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 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 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 UniProtKB 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 EMBL 2 GO 3 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 4 MaxQB 1 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. For the full schema, download it here.