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HS6ST2 Gene

protein-coding   GIFtS: 57
GCID: GC0XM131760

Heparan Sulfate 6-O-Sulfotransferase 2

  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 6-O-Sulfotransferase 21 2
HS6ST-22 3
Heparan-Sulfate 6-O-Sulfotransferase 22
EC 2.8.2.-3
EC 2.8.28

External Ids:    HGNC: 191331   Entrez Gene: 901612   Ensembl: ENSG000001710047   OMIM: 3005455   UniProtKB: Q96MM73   

Export aliases for HS6ST2 gene to outside databases

Previous GC identifers: GC0XM126407 GC0XM128605 GC0XM129705 GC0XM130465 GC0XM131485 GC0XM131587 GC0XM121164


(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 HS6ST2 Gene:
Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement
membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration.
This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer
of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with
tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for HS6ST2 Gene:
HS6ST2 (heparan sulfate 6-O-sulfotransferase 2) is a protein-coding gene. Diseases associated with HS6ST2 include morquio syndrome b, and sly syndrome. GO annotations related to this gene include sulfotransferase activity. An important paralog of this gene is HS6ST3.

UniProtKB/Swiss-Prot: H6ST2_HUMAN, Q96MM7
Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate
(PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate




(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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RefSeq DNA sequence:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HS6ST2 gene promoter:
         GATA-3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   Nkx2-5   POU3F2   NF-kappaB   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HS6ST2 promoter sequence
   Search Chromatin IP Primers for HS6ST2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HS6ST2


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

Entrez Gene cytogenetic band: Xq26.2   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq26.2

HS6ST2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HS6ST2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM131760:  view genomic region     (about GC identifiers)

Start:
131,760,038 bp from pter      End:
132,095,423 bp from pter
Size:
335,386 bases      Orientation:
minus 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: H6ST2_HUMAN, Q96MM7 (See protein sequence)
Recommended Name: Heparan-sulfate 6-O-sulfotransferase 2  
Size: 605 amino acids; 69130 Da
Secondary accessions: B9WRT4 B9WRT5 E9PDY5 Q2TB13 Q4VC07 Q6PIC4 Q86SM9 Q8N3T4 Q8NBN4 Q96SJ4
Alternative splicing: 4 isoforms:  Q96MM7-1   Q96MM7-2   Q96MM7-3   Q96MM7-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for HS6ST2: NX_Q96MM7

Explore proteomics data for HS6ST2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn209, Asn404, Asn460, Thr528, Asn544, Asn556, Asn564, Asn589, Asn592
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HS6ST2 (Q96MM7) (see all 6)
     GQKKCTC  FISPFTQ  MAFFGLTE  LRDPVSRYLSEW 


    See HS6ST2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001070656.1  NP_671704.3  

    ENSEMBL proteins: 
     ENSP00000359873   ENSP00000429473   ENSP00000359870   ENSP00000384013  
    Reactome Protein details: Q96MM7

    HS6ST2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for HS6ST2
    OriGene Custom MassSpec
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    Novus Biologicals HS6ST2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HS6ST2

    HS6ST2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for HS6ST2
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    LSBio Antibodies in human, mouse, rat for HS6ST2

    HS6ST2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HS6ST2
    Cloud-Clone Corp. CLIAs for HS6ST2


    (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:
     IPR010635 Heparan_SO4-6-sulfoTrfase
     IPR005331 Sulfotransferase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q96MM7

    ProtoNet protein and cluster: Q96MM7

    UniProtKB/Swiss-Prot: H6ST2_HUMAN, Q96MM7
    Similarity: Belongs to the sulfotransferase 6 family


    HS6ST2 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: H6ST2_HUMAN, Q96MM7
    Function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate
    (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate
    Catalytic activity: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate +
    [heparan sulfate]-glucosamine 6-sulfate

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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008146sulfotransferase activity IEA--
         
    HS6ST2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HS6ST2:
     Decreased viability with pacli 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hs6st2):
     cellular  endocrine/exocrine gland  no phenotypic analysis  normal 

    HS6ST2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HS6ST2: Hs6st2tm1.1Kkm Hs6st2tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HS6ST2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HS6ST2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HS6ST2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HS6ST2

    miRNA
    Products:
        
    miRTarBase miRNAs that target HS6ST2:
    hsa-mir-152-3p (MIRT045821), hsa-let-7e-5p (MIRT051597)

    Block miRNA regulation of human, mouse, rat HS6ST2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS6ST2 (see all 9):
    hsa-miR-140-3p hsa-miR-582-5p hsa-miR-3673 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidHS6ST2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HS6ST2
    Predesigned siRNA for gene silencing in human, mouse, rat HS6ST2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HS6ST2

    Clone
    Products:
         
    OriGene clones in human, mouse for HS6ST2 (see all 13)
    OriGene ORF clones in mouse, rat for HS6ST2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HS6ST2 (NM_147175)
    Sino Biological Human cDNA Clone for HS6ST2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HS6ST2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS6ST2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HS6ST2
    Browse ESI BIO Cell Lines and PureStem Progenitors for HS6ST2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST2


    (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
    H6ST2_HUMAN, Q96MM7: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    nucleus2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    HS6ST2 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 HS6ST2 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2MPS 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
    3Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    4Biological oxidations
    metapathway biotransformation0.42
    5Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for HS6ST2
        Articular Cartilage Extracellular Matrix


    3 BioSystems Pathways for HS6ST2
        heparan sulfate biosynthesis (late stages)
    metapathway biotransformation
    heparan sulfate biosynthesis


    1 Reactome Pathway for HS6ST2
        HS-GAG biosynthesis


    1 Kegg Pathway  (Kegg details for HS6ST2):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin


    HS6ST2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including HS6ST2: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HS6ST2

    Gene Ontology (GO): 4 biological process terms:    About this table

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

    HS6ST2 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 HS6ST2 (H6ST2)

    1 HMDB Compound for HS6ST2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoadenosine phosphosulfate3'-Phospho-5'-adenylyl sulfate (see all 9)482-67-7--



    (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 HS6ST2 gene (2 alternative transcripts): 
    NM_001077188.1  NM_147175.3  

    Unigene Cluster for HS6ST2:

    Heparan sulfate 6-O-sulfotransferase 2
    Hs.385956  [show with all ESTs]
    Unigene Representative Sequence: NM_001077188
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370836(uc011mvd.1 uc011mve.1) ENST00000521489 ENST00000602570
    ENST00000370833 ENST00000406696
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HS6ST2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HS6ST2 (see all 9):
    hsa-miR-140-3p hsa-miR-582-5p hsa-miR-3673 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidHS6ST2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HS6ST2
    Predesigned siRNA for gene silencing in human, mouse, rat HS6ST2
    Clone
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    OriGene clones in human, mouse for HS6ST2 (see all 13)
    OriGene ORF clones in mouse, rat for HS6ST2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HS6ST2 (NM_147175)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HS6ST2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HS6ST2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HS6ST2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HS6ST2
      QuantiTect SYBR Green Assays in human, mouse, rat HS6ST2
      QuantiFast Probe-based Assays in human, mouse, rat HS6ST2

    Additional mRNA sequence: 

    AB067776.1 AB067777.1 AK027720.1 AK056706.1 AK075402.1 AK295041.1 AK295118.1 AK298956.1 
    AL049679.1 AL831923.1 BC037325.2 BC094718.1 BC110620.1 BC110621.1 

    8 DOTS entries:

    DT.308830  DT.100021671  DT.102822215  DT.97835586  DT.102822218  DT.121308823  DT.121308835  DT.91992605 

    16 AceView cDNA sequences:

    CD637453 CD637446 CD637461 BP873480 CF593799 BM903622 CD637444 CD637456 
    CD637459 CD637443 CD637450 CD637449 CD637458 CD637448 CD637462 CD637451 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HS6ST2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                    -     -               
    SP2:                                          


    ECgene alternative splicing isoforms for HS6ST2

    (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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    HS6ST2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTAGTTTTA
    HS6ST2 Expression
    About this image


    HS6ST2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Lens Vesicle
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
    HS6ST2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HS6ST2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.385956
        Pathway & Disease-focused RT2 Profiler PCR Array including HS6ST2: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HS6ST2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HS6ST2
    QuantiTect SYBR Green Assays in human, mouse, rat HS6ST2
    QuantiFast Probe-based Assays in human, mouse, rat HS6ST2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HS6ST2

    (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 HS6ST2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hs6st21 , 5 heparan sulfate 6-O-sulfotransferase 21, 5 91.37(n)1
    91.47(a)1
      X (28.04 cM)5
    507861  NM_001077202.11  NP_001070670.11 
     513872125 
    chicken
    (Gallus gallus)
    Aves HS6ST21 heparan sulfate 6-O-sulfotransferase 2 79.84(n)
    87.17(a)
      395150  NM_204490.1  NP_989821.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hs6st21 heparan sulfate 6-O-sulfotransferase 2 77.54(n)
    87.63(a)
      100496603  XM_002932587.2  XP_002932633.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hs6st21 heparan sulfate 6-O-sulfotransferase 2 65.97(n)
    70.08(a)
      378450  NM_194421.1  NP_919402.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hs6st6
    Heparan sulfate 6-O-sulfotransferase
    38(a)
    1 → many
    3R(15755436-15834244)
    worm
    (Caenorhabditis elegans)
    Secernentea hst-61 hst-6 51.88(n)
    49.15(a)
      189586  NM_076494.3  NP_508895.2 


    ENSEMBL Gene Tree for HS6ST2 (if available)
    TreeFam Gene Tree for HS6ST2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HS6ST2 gene
    HS6ST32  HS6ST12  
    2 SIMAP similar genes for HS6ST2 using alignment to 3 protein entries:     H6ST2_HUMAN (see all proteins):
    HS6ST3    HS6ST1

    HS6ST2 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 HS6ST2 (see all 3956)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59753461,2
    C,H--131759569(+) AGTTTA/CCAGGC 2 -- ds50016Minor allele frequency- C:0.00NS EA NA 422
    rs1859621071,2
    --131759611(+) TTGTAG/TCTTTC 2 -- ds50010--------
    rs1912551491,2
    --131759663(+) AAAAGC/TGCAAG 2 -- ds50010--------
    rs1812522271,2
    C--131759815(+) AAGAGC/TACCAT 2 -- ds50010--------
    rs1867598531,2
    --131759900(+) TGAGGA/GATTAG 2 -- ds50010--------
    rs1904246571,2
    --131760141(+) GAAATA/CATGGG 2 -- ut310--------
    rs362084581,2
    C--131760165(+) CAAAA-/ATGTAT
            
    ATGTA
    2 -- cds10--------
    rs349482271,2
    C,F--131760197(+) TATATC/ACAATA 2 -- ut312Minor allele frequency- A:0.50NA 4
    rs1830115841,2
    --131760252(+) CACACC/GACAGC 2 -- ut310--------
    rs1487515131,2
    C--131760299(+) CACTGG/TCTCAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HS6ST2 (131760038 - 132010038 bp, first 250kb of HS6ST2)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for HS6ST2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657460CNV Deletion23128226
    esv2670884CNV Deletion23128226
    esv2740485CNV Deletion23290073
    nsv7093CNV Insertion18451855
    nsv7095CNV Insertion18451855
    nsv7094CNV Insertion18451855
    esv267670CNV Insertion20981092
    nsv7096CNV Insertion18451855
    esv33324CNV Loss17666407
    esv21961CNV Loss19812545

    Locus Specific Mutation Databases (LSDB): HS6ST2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HS6ST2
    DNA2.0 Custom Variant and Variant Library Synthesis for HS6ST2

    (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: 300545    OMIM disorders: --

    9 diseases for HS6ST2:    
    About MalaCards
    morquio syndrome b    sly syndrome    mucopolysaccharidoses    pancreatic cancer
    retinitis    pancreatitis    hiv-1    cerebritis
    neuronitis


    HS6ST2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HS6ST2

    Export disorders for HS6ST2 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 HS6ST2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with HS6ST2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine. (PubMed id 10644753)1, 3, 9 Habuchi H....Kimata K. (J. Biol. Chem. 2000)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    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. Biosynthesis of heparan sulphate with diverse structures and functions: two alternatively spliced forms of human heparan sulphate 6-O-sulphotransferase-2 having different expression patterns and properties. (PubMed id 12492399)1, 2 Habuchi H.... Kimata K. (Biochem. J. 2003)
    7. Genome-wide association study of chronic periodontitis in a general German population. (PubMed id 24024966)1 Teumer A....Kocher T. (J. Clin. Periodontol. 2013)
    8. Silencing of hHS6ST2 inhibits progression of pancreatic cancer through inhibition of Notch signalling. (PubMed id 21443520)1 Song K....Li P. (Biochem. J. 2011)
    9. Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)4 Fellay J....Goldstein D.B. (PLoS Genet. 2009)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 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)
    About This Section

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    Entrez Gene: 90161 HGNC: 19133 AceView: HS6ST2.1 Ensembl:ENSG00000171004 euGenes: HUgn90161
    ECgene: HS6ST2 Kegg: 90161 H-InvDB: HS6ST2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HS6ST2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HS6ST2 gene:
    Search GeneIP for patents involving HS6ST2

    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
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