This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunt... See more...

Aliases for IDS Gene

Aliases for IDS Gene

  • Iduronate 2-Sulfatase 2 3 4 5
  • Alpha-L-Iduronate Sulfate Sulfatase 3 4
  • Idursulfase 3 4
  • ID2S 2 3
  • SIDS 3 4
  • Iduronate 2-Sulfatase 14 KDa Chain 3
  • Iduronate 2-Sulfatase 42 KDa Chain 3
  • Hunter Syndrome 2
  • EC 3.1.6.13 4
  • MPS2 3
  • IDS 5

External Ids for IDS Gene

Previous HGNC Symbols for IDS Gene

  • SIDS

Previous GeneCards Identifiers for IDS Gene

  • GC0XM143088
  • GC0XM145395
  • GC0XM146459
  • GC0XM147269
  • GC0XM148266
  • GC0XM148369
  • GC0XM148558
  • GC0XM137513

Summaries for IDS Gene

Entrez Gene Summary for IDS Gene

  • This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneCards Summary for IDS Gene

IDS (Iduronate 2-Sulfatase) is a Protein Coding gene. Diseases associated with IDS include Mucopolysaccharidosis, Type Ii and Lysosomal Storage Disease. Among its related pathways are Lysosome and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and iduronate-2-sulfatase activity. An important paralog of this gene is ENSG00000241489.

UniProtKB/Swiss-Prot Summary for IDS Gene

  • Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate.

Gene Wiki entry for IDS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IDS Gene

Genomics for IDS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IDS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ149502 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +16.6 16569 4.2 CREB1 CTCF YBX1 ZNF512 RFX1 IKZF1 ZNF692 POLR2A BACH1 TARDBP IDS EOLA1 LINC00893 ENSG00000241489 TMEM185AP1 EOLA2 LINC00894 ENSG00000238039 RF00017-8789 ENSG00000287585
GH0XJ149482 Promoter 0.3 EPDnew 600.3 +38.4 38441 0.1 IDS RF00017-8789 ENSG00000241489 ENSG00000287585
GH0XJ149630 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 6.7 -110.2 -110204 2.6 POLR2A LARP7 YY1 ZFX NRF1 TAF1 DPF2 EGR1 OSR2 ZBTB26 TMEM185A EOLA1 IDS HSFX2
GH0XJ149510 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +7.7 7695 7.2 CREB1 CTCF IKZF1 ZNF692 PKNOX1 REST RAD21 TRIM22 ZNF600 RUNX3 ENSG00000238039 EOLA1 LINC00893 ENSG00000241489 IDS IDS2 RF00017-8789 ENSG00000287585
GH0XJ149520 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 0.7 -2.6 -2574 6.4 ATF7 RFX1 BACH1 MTA1 NR2C1 SP1 HDAC1 SCRT2 EGR1 CTBP1 IDSP1 ENSG00000238039 EOLA1 TMEM185A IDS IDS2 ENSG00000241489 LINC00893
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IDS

Top Transcription factor binding sites by QIAGEN in the IDS gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HTF
  • NF-1
  • NF-1/L
  • S8

Genomic Locations for IDS Gene

Genomic Locations for IDS Gene
chrX:149,476,988-149,521,096
(GRCh38/hg38)
Size:
44,109 bases
Orientation:
Minus strand
chrX:148,558,521-148,615,470
(GRCh37/hg19)
Size:
56,950 bases
Orientation:
Minus strand

Genomic View for IDS Gene

Genes around IDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDS Gene

Proteins for IDS Gene

  • Protein details for IDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22304-IDS_HUMAN
    Recommended name:
    Iduronate 2-sulfatase
    Protein Accession:
    P22304
    Secondary Accessions:
    • D3DWT4
    • Q14604
    • Q9BRM3

    Protein attributes for IDS Gene

    Size:
    550 amino acids
    Molecular mass:
    61873 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer (PubMed:28593992). The 58-kDa mature form is composed of two chains resulting from proteolitic processing, the 42-kDa chain and the 14-kDa chain that remain stably associated and form the 58-kDa intermediate form which is enzymatically active (PubMed:28593992).

    Three dimensional structures from OCA and Proteopedia for IDS Gene

    Alternative splice isoforms for IDS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IDS Gene

Post-translational modifications for IDS Gene

  • Synthesized as a 75-kDa precursor form in the endoplasmic reticulum (ER), and then processed by proteolytic cleavage through various intermediates to yield a 55-kDa mature form, with the release of an 18 kDa polypeptide.
  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Glycosylation at Asn115, Asn144, Asn246, Asn280, Asn325, Asn513, and Asn537
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IDS Gene

Domains & Families for IDS Gene

Gene Families for IDS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for IDS Gene

InterPro:
Blocks:
  • Sulfatase
ProtoNet:

Suggested Antigen Peptide Sequences for IDS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42669 fis, clone BRAMY2022168, highly similar to IDURONATE 2-SULFATASE (EC 3.1.6.13) (B3KWA1_HUMAN)
  • cDNA FLJ59900, highly similar to Iduronate 2-sulfatase (EC 3.1.6.13) (B4DIX1_HUMAN)
  • Alpha-L-iduronate sulfate sulfatase (IDS_HUMAN)
  • Iduronate-2-sulphatase (Q14603_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22304

UniProtKB/Swiss-Prot:

IDS_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with IDS: view

Function for IDS Gene

Molecular function for IDS Gene

UniProtKB/Swiss-Prot Function:
Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.; EC=3.1.6.13; Evidence={ECO:0000269|PubMed:10838181, ECO:0000269|PubMed:11731225, ECO:0000269|PubMed:28593992};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=327 uM for O-(alpha-L-idopyranosyluronic acid-2-sulfate)-(1->4)-2,5 anhydromannose-6-sulfate {ECO:0000269|PubMed:10838181};
GENATLAS Biochemistry:
iduronate 2-sulfatase,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the first step of degradation of glucosaminoglycans (mucopolysaccharides)

Enzyme Numbers (IUBMB) for IDS Gene

Phenotypes From GWAS Catalog for IDS Gene

Gene Ontology (GO) - Molecular Function for IDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004423 iduronate-2-sulfatase activity TAS,IDA 10838181
GO:0005509 calcium ion binding IDA 28593992
GO:0008484 sulfuric ester hydrolase activity IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with IDS: view
genes like me logo Genes that share phenotypes with IDS: view

Human Phenotype Ontology for IDS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IDS Gene

MGI Knock Outs for IDS:
  • Ids Ids<tm1Eto>
  • Ids Ids<tm1Muen>

Animal Model Products

  • Taconic Biosciences Mouse Models for IDS

CRISPR Products

miRNA for IDS Gene

miRTarBase miRNAs that target IDS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDS

No data available for Transcription Factor Targets and HOMER Transcription for IDS Gene

Localization for IDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDS Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IDS gene
Compartment Confidence
lysosome 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for IDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 10838181
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with IDS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IDS Gene

Pathways & Interactions for IDS Gene

genes like me logo Genes that share pathways with IDS: view

Gene Ontology (GO) - Biological Process for IDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006027 glycosaminoglycan catabolic process IDA,TAS --
GO:0030207 chondroitin sulfate catabolic process TAS --
genes like me logo Genes that share ontologies with IDS: view

No data available for SIGNOR curated interactions for IDS Gene

Drugs & Compounds for IDS Gene

(7) Drugs for IDS Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chondroitin sulfate Approved, Investigational Nutra Enzyme, substrate 0
Kava Approved, Investigational Nutra 259
Water Approved Pharma 0
Sulfate Experimental, Investigational Pharma 0
IDURONATE-2 SULFATASE Pharma 0

(9) Additional Compounds for IDS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate b
  • Chondroitin sulfate type b
  • Chondroitin sulphate b
24967-94-0
heparan sulfate
  • Heparan sulfuric acid
  • Heparan sulphate
  • Heparan sulphuric acid
  • alpha-Idosane
  • Heparan N-sulfate
9050-30-0
genes like me logo Genes that share compounds with IDS: view

Transcripts for IDS Gene

mRNA/cDNA for IDS Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDS

Alternative Splicing Database (ASD) splice patterns (SP) for IDS Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: -
SP7:
SP8:

Relevant External Links for IDS Gene

GeneLoc Exon Structure for
IDS

Expression for IDS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IDS Gene

mRNA differential expression in normal tissues according to GTEx for IDS Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Amygdala (x4.6), Brain - Frontal Cortex (BA9) (x4.5), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for IDS Gene

This gene is overexpressed in NK cells (27.0), Amniocyte (11.2), Vitreous humor (10.6), Cerebrospinal fluid (6.9), and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IDS Gene



Protein tissue co-expression partners for IDS Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IDS

SOURCE GeneReport for Unigene cluster for IDS Gene:

Hs.460960

mRNA Expression by UniProt/SwissProt for IDS Gene:

P22304-IDS_HUMAN
Tissue specificity: Liver, kidney, lung, and placenta.

Evidence on tissue expression from TISSUES for IDS Gene

  • Nervous system(5)
  • Skin(4.7)
  • Heart(4.6)
  • Liver(4.5)
  • Blood(4.5)
  • Pancreas(3.9)
  • Intestine(2.9)
  • Lung(2.9)
  • Muscle(2.8)
  • Kidney(2.8)
  • Eye(2.6)
  • Adrenal gland(2.5)
  • Spleen(2.5)
  • Bone marrow(2.4)
  • Stomach(2.4)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Gall bladder(2.1)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IDS: view

Orthologs for IDS Gene

This gene was present in the common ancestor of animals.

Orthologs for IDS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IDS 30
  • 93.84 (n)
Dog
(Canis familiaris)
Mammalia IDS 30 31
  • 86.34 (n)
OneToMany
Cow
(Bos Taurus)
Mammalia IDS 30 31
  • 85.5 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Ids 30 17 31
  • 84.31 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ids 30
  • 81.92 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
OneToMany
Chicken
(Gallus gallus)
Aves IDS 30 31
  • 68.33 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ids 30
  • 65.16 (n)
Str.19540 30
Zebrafish
(Danio rerio)
Actinopterygii ids 30 31
  • 62.62 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4135 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005778 30
  • 53.31 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12014 30 31 32
  • 51.8 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
Species where no ortholog for IDS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IDS Gene

ENSEMBL:
Gene Tree for IDS (if available)
TreeFam:
Gene Tree for IDS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IDS: view image

Paralogs for IDS Gene

(9) SIMAP similar genes for IDS Gene using alignment to 8 proteins:

  • IDS_HUMAN
  • B3KWA1_HUMAN
  • B4DIX1_HUMAN
  • E5RHJ1_HUMAN
  • H0YB91_HUMAN
  • L8E9D7_HUMAN
  • O60597_HUMAN
  • Q14603_HUMAN

Pseudogenes.org Pseudogenes for IDS Gene

genes like me logo Genes that share paralogs with IDS: view

Variants for IDS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IDS Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
638078 Uncertain Significance: Mucopolysaccharidosis, MPS-II 149,504,210(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
638079 Likely Pathogenic: Mucopolysaccharidosis, MPS-II 149,503,371(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638080 Pathogenic: Mucopolysaccharidosis, MPS-II 149,498,222(-) TCAGG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638081 Likely Pathogenic: Mucopolysaccharidosis, MPS-II 149,498,107(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
638082 Likely Pathogenic: Mucopolysaccharidosis, MPS-II 149,496,414(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for IDS Gene

Structural Variations from Database of Genomic Variants (DGV) for IDS Gene

Variant ID Type Subtype PubMed ID
esv33821 CNV loss 17666407
nsv518742 CNV gain 19592680
nsv525908 CNV gain 19592680
nsv7147 CNV insertion 18451855

Variation tolerance for IDS Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IDS Gene

Human Gene Mutation Database (HGMD)
IDS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IDS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDS Gene

Disorders for IDS Gene

MalaCards: The human disease database

(21) MalaCards diseases for IDS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IDS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IDS_HUMAN
  • Mucopolysaccharidosis 2 (MPS2) [MIM:309900]: An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation. {ECO:0000269 PubMed:10215411, ECO:0000269 PubMed:10220152, ECO:0000269 PubMed:10447264, ECO:0000269 PubMed:10671065, ECO:0000269 PubMed:10838181, ECO:0000269 PubMed:11015461, ECO:0000269 PubMed:11683780, ECO:0000269 PubMed:11731225, ECO:0000269 PubMed:12655569, ECO:0000269 PubMed:12794697, ECO:0000269 PubMed:1284597, ECO:0000269 PubMed:1303211, ECO:0000269 PubMed:16699754, ECO:0000269 PubMed:7581397, ECO:0000269 PubMed:7599640, ECO:0000269 PubMed:7728156, ECO:0000269 PubMed:7866405, ECO:0000269 PubMed:7887413, ECO:0000269 PubMed:7981716, ECO:0000269 PubMed:8281149, ECO:0000269 PubMed:8566953, ECO:0000269 PubMed:8664909, ECO:0000269 PubMed:8830188, ECO:0000269 PubMed:8940265, ECO:0000269 PubMed:9222763, ECO:0000269 PubMed:9266380, ECO:0000269 PubMed:9375851, ECO:0000269 PubMed:9452044, ECO:0000269 PubMed:9501270, ECO:0000269 PubMed:9660053, ECO:0000269 PubMed:9762601, ECO:0000269 PubMed:9875019, ECO:0000269 PubMed:9921913, ECO:0000269 PubMed:9950361}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IDS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IDS: view

No data available for Genatlas for IDS Gene

Publications for IDS Gene

  1. Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. (PMID: 16699754) Lualdi S … Filocamo M (Journal of molecular medicine (Berlin, Germany) 2006) 3 4 23
  2. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. (PMID: 12655569) Kim CH … Jin DK (Human mutation 2003) 3 4 23
  3. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. (PMID: 11731225) Bonuccelli G … Filocamo M (Biochimica et biophysica acta 2001) 3 4 23
  4. Expression of five iduronate-2-sulfatase site-directed mutations. (PMID: 10838181) Villani GR … Di Natale P (Biochimica et biophysica acta 2000) 3 4 23
  5. Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online. (PMID: 10447264) Hartog C … Upadhyaya M (Human mutation 1999) 3 4 23

Products for IDS Gene

Sources for IDS Gene