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HS2ST1 Gene

protein-coding   GIFtS: 60
GCID: GC01P087380

Heparan Sulfate 2-O-Sulfotransferase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heparan Sulfate 2-O-Sulfotransferase 11 2     EC 2.8.2.-3
2-O-sulfotransferase2 3     HS2ST3
2OST2 3     KIAA04483
dJ604K5.22     EC 2.8.28

External Ids:    HGNC: 51931   Entrez Gene: 96532   Ensembl: ENSG000001539367   OMIM: 6048445   UniProtKB: Q7LGA33   

Export aliases for HS2ST1 gene to outside databases

Previous GC identifers: GC01P087882 GC01P086549 GC01P086672 GC01P086802 GC01P087092 GC01P085491


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HS2ST1 Gene:
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine
structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate
biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan
sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that
the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively
spliced transcript variants that encode different proteins have been found for this gene. (provided by RefSeq,
Aug 2008)

GeneCards Summary for HS2ST1 Gene:
HS2ST1 (heparan sulfate 2-O-sulfotransferase 1) is a protein-coding gene. Diseases associated with HS2ST1 include morquio syndrome b, and sly syndrome. GO annotations related to this gene include sulfotransferase activity. An important paralog of this gene is ENSG00000267561.

UniProtKB/Swiss-Prot: HS2ST_HUMAN, Q7LGA3
Function: Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the
maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS
to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates
2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity)

Gene Wiki entry for HS2ST1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the HS2ST1 gene promoter:
         RREB-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Meis-1b   MZF-1   FOXO4   Meis-1a   AP-2alphaA   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHS2ST1 promoter sequence
   Search Chromatin IP Primers for HS2ST1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HS2ST1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

HS2ST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS2ST1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P087380:  view genomic region     (about GC identifiers)

Start:
87,380,331 bp from pter      End:
87,602,334 bp from pter
Size:
222,004 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HS2ST_HUMAN, Q7LGA3 (See protein sequence)
Recommended Name: Heparan sulfate 2-O-sulfotransferase 1  
Size: 356 amino acids; 41881 Da
Subunit: Homotrimer. Interacts with the C5-epimerase GLCE (By similarity)
Sequence caution: Sequence=BAA32293.2; Type=Erroneous initiation;
Secondary accessions: D3DT22 O75036 Q32NB5 Q8TAC5 Q9H441 Q9NUJ9
Alternative splicing: 3 isoforms:  Q7LGA3-1   Q7LGA3-2   Q7LGA3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HS2ST1: NX_Q7LGA3

Explore proteomics data for HS2ST1 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn108, Asn127
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HS2ST1 (Q7LGA3) (see all 13)
     YNRVPKT  NIAYDLC  PPKLQLLAV  NEYFLVGVTE 


    See HS2ST1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001127964.1  NP_036394.1  

    ENSEMBL proteins: 
     ENSP00000359582   ENSP00000359581   ENSP00000467253   ENSP00000349268  
    Reactome Protein details: Q7LGA3

    HS2ST1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for HS2ST1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SULTM: Sulfotransferases, membrane-bound

    3 InterPro protein domains:
     IPR005331 Sulfotransferase
     IPR007734 Heparan_SO4_2-O-STrfase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q7LGA3

    ProtoNet protein and cluster: Q7LGA3

    UniProtKB/Swiss-Prot: HS2ST_HUMAN, Q7LGA3
    Similarity: Belongs to the sulfotransferase 3 family


    HS2ST1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HS2ST_HUMAN, Q7LGA3
    Function: Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the
    maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS
    to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates
    2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity)

         Enzyme Numbers (IUBMB): EC 2.8.2.-1 EC 2.8.22

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001733galactosylceramide sulfotransferase activity ----
    GO:0008146sulfotransferase activity IEA--
         
    HS2ST1 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hs2st1):
     craniofacial  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  limbs/digits/tail 
     liver/biliary system  mortality/aging  nervous system  pigmentation  renal/urinary system 
     skeleton  vision/eye 

    HS2ST1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hs2st1tm1.2Je for HS2ST1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HS2ST1
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    miRNA
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    miRTarBase miRNAs that target HS2ST1:
    hsa-mir-124-3p (MIRT022975), hsa-let-7b-5p (MIRT032481), hsa-mir-1 (MIRT023971)

    Block miRNA regulation of human, mouse, rat HS2ST1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS2ST1 (see all 145):
    hsa-miR-576-3p hsa-miR-140-5p hsa-miR-520f hsa-miR-106a hsa-miR-1260b hsa-miR-200b hsa-miR-761 hsa-miR-520b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HS2ST1

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    GenScript: all cDNA clones in your preferred vector (see all 2): HS2ST1 (NM_012262)
    Sino Biological Human cDNA Clone for HS2ST1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HS2ST1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS2ST1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS2ST1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HS2ST_HUMAN, Q7LGA3: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum2
    cytosol1
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016021integral component of membrane IEA--

    HS2ST1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HS2ST1 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    2Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    3heparan sulfate biosynthesis
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    4Biological oxidations
    metapathway biotransformation0.42
    5Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for HS2ST1
        Articular Cartilage Extracellular Matrix


    1 BioSystems Pathway for HS2ST1
        metapathway biotransformation


    1 Reactome Pathway for HS2ST1
        HS-GAG biosynthesis


    1 Kegg Pathway  (Kegg details for HS2ST1):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin


    HS2ST1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HS2ST1
    Interactions:

        Search GeneGlobe Interaction Network for HS2ST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for HS2ST1 (Q7LGA33 ENSP000003595814) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNIKQ9UKE53I2D: score=3 
    GLCEENSP000002618584STRING: ENSP00000261858
    GPC1ENSP000002640394STRING: ENSP00000264039
    GPC2ENSP000002923774STRING: ENSP00000292377
    GPC3ENSP000003598544STRING: ENSP00000359854
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    HS2ST1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HS2ST1 (HS2ST)

    4 Novoseek inferred chemical compound relationships for HS2ST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 84.7 9 15671174 (2), 14660620 (1), 20059993 (1), 16966419 (1) (see all 5)
    3-phosphoadenosine 5'-phosphosulfate 74.5 3 16192264 (2), 11331020 (1)
    sulfate 55.5 3 16192264 (2), 11331020 (1)
    chondroitin sulfate 52.9 4 16192264 (4)



    HS2ST1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HS2ST1 gene (2 alternative transcripts): 
    NM_001134492.1  NM_012262.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370551(uc001dmc.4) ENST00000370550(uc010osk.2) ENST00000591456
    ENST00000356813
    miRNA
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    Block miRNA regulation of human, mouse, rat HS2ST1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS2ST1 (see all 145):
    hsa-miR-576-3p hsa-miR-140-5p hsa-miR-520f hsa-miR-106a hsa-miR-1260b hsa-miR-200b hsa-miR-761 hsa-miR-520b
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    GenScript: all cDNA clones in your preferred vector (see all 2): HS2ST1 (NM_012262)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS2ST1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HS2ST1
      QuantiTect SYBR Green Assays in human, mouse, rat HS2ST1
      QuantiFast Probe-based Assays in human, mouse, rat HS2ST1

    Selected AceView cDNA sequences (see all 312):

    BX508938 BM782734 AW235770 AI367608 AI221327 CB306296 AA731300 BQ228491 
    AA766858 W67922 BQ434326 BF447212 BM722117 AW167140 CA428515 AL134901 
    BM787569 BM763949 AI678718 BX954756 AA736986 CK818841 BE504090 BM127717 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HS2ST1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14
    SP1:                                                  -           -     -     -     -     -     -     -     -     -           -     -     -         
    SP2:              -     -                             -                                                                                             
    SP3:              -     -                                                                                                                           
    SP4:                                                                                                  -           -                                 
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for HS2ST1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HS2ST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAAGCACT
    HS2ST1 Expression
    About this image


    HS2ST1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Retina
     
     Lower Urinary Tract (Urinary System)
             Ureter Cells Ureter
    HS2ST1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HS2ST1 Protein Expression
        Custom PCR Arrays for HS2ST1
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    QuantiFast Probe-based Assays in human, mouse, rat HS2ST1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS2ST1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HS2ST1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hs2st11 , 5 heparan sulfate 2-O-sulfotransferase 11, 5 88.3(n)1
    97.47(a)1
      3 (68.89 cM)5
    239081  NM_011828.31  NP_035958.31 
     1444311035 
    chicken
    (Gallus gallus)
    Aves HS2ST11 heparan sulfate 2-O-sulfotransferase 1 84.55(n)
    94.1(a)
      395140  NM_204481.1  NP_989812.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    92(a)
    1 → many
    4(97210011-97328163)
    African clawed frog
    (Xenopus laevis)
    Amphibia hs2st2 heparan sulfate 2-sulfotransferase 82.55(n)    AF060179.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hs2st1a1 heparan sulfate 2-O-sulfotransferase 1a 74.67(n)
    85.03(a)
      791188  NM_001080670.1  NP_001074139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hs2st1 , 3 heparin-sulfate 2-sulfotransferase3
    Heparan sulfate 2-O-sulfotransferase1
    60(a)
    (best of 2)3
    57.93(n)1
    58.28(a)1
      37E13
    444331  NM_057991.41  NP_477339.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hst-23   -- 50(a)   X(11239374-11242317)   --


    ENSEMBL Gene Tree for HS2ST1 (if available)
    TreeFam Gene Tree for HS2ST1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HS2ST1 gene
    ENSG000002675612  UST2  
    1 SIMAP similar gene for HS2ST1 using alignment to 3 protein entries:     HS2ST_HUMAN (see all proteins):
    UST

    HS2ST1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HS2ST1 (see all 3437)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018779121,2
    --87382456(+) GACTC-/CTCTTGA 2 -- int10--------
    rs1870144281,2
    --87382461(+) CTCTTC/GAAGTG 2 -- int10--------
    rs1914370571,2
    --87382467(+) AAGTGG/TAAAGT 2 -- int10--------
    rs1457122991,2
    C--87382552(+) CACGTC/TACAGT 2 -- int10--------
    rs1836805521,2
    --87382702(+) AATATA/GAAGTG 2 -- int10--------
    rs1891991301,2
    --87382778(+) GACTAC/TAGATG 2 -- int10--------
    rs1930606011,2
    --87382873(+) TTCATC/TGTAGA 2 -- int10--------
    rs781305571,2
    F--87382883(+) ATACTC/TGTGTT 2 -- int11Minor allele frequency- T:0.03NA 120
    rs1854759831,2
    --87382899(+) TAAGAA/CCACCA 2 -- int10--------
    rs1899488121,2
    --87382930(+) GACACA/GGTGGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for HS2ST1 (87380331 - 87602334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HS2ST1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1704081CNV Deletion17803354
    esv2675888CNV Deletion23128226
    esv2476077CNV Insertion19546169
    esv1005148CNV Insertion20482838
    esv271397CNV Insertion20981092
    esv1375917CNV Insertion17803354
    nsv509380CNV Insertion20534489
    nsv512744CNV Insertion21212237
    esv1002791CNV Insertion20482838
    esv28524CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HS2ST1
    DNA2.0 Custom Variant and Variant Library Synthesis for HS2ST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604844    OMIM disorders: --

    12 diseases for HS2ST1:    
    About MalaCards
    morquio syndrome b    sly syndrome    mucopolysaccharidoses    chronic lymphocytic leukemia
    tonsillitis    retinitis    endotheliitis    leukemia
    thyroiditis    cerebritis    malaria    prostatitis


    HS2ST1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HS2ST1
    Human Genome Epidemiology (HuGE) Navigator: HS2ST1 (3 documents)

    Export disorders for HS2ST1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HS2ST1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with HS2ST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2, 3 Seki N.... Ohara O. (DNA Res. 1997)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (Haematologica 2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PubMed id 21738478)4 Okada Y....Kamatani N. (PLoS Genet. 2011)
    9. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PubMed id 19247474)4 Caporaso N....Bergen A.W. (PLoS ONE 2009)
    10. Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase. (PubMed id 17227754)1 Xu D....Liu J. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9653 HGNC: 5193 AceView: HS2ST1 Ensembl:ENSG00000153936 euGenes: HUgn9653
    ECgene: HS2ST1 Kegg: 9653 H-InvDB: HS2ST1

    (According to HUGE)
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    HUGE: KIAA0448

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HS2ST1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HS2ST1 gene:
    Search GeneIP for patents involving HS2ST1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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