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    HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 [ Homo sapiens (human) ]

    Gene ID: 9956, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HS3ST2provided by HGNC
    Official Full Name
    heparan sulfate-glucosamine 3-sulfotransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:5195
    See related
    Ensembl:ENSG00000122254 MIM:604056; AllianceGenome:HGNC:5195
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    30ST2; 3OST2
    Summary
    Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 12.4) and lung (RPKM 0.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See HS3ST2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22814162..22916338)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (23091844..23194123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22825483..22927659)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22593503-22594003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22635639-22636161 Neighboring gene long intergenic non-protein coding RNA 2890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:22646396-22646952 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:22646953-22647508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:22692364-22693148 Neighboring gene collagen alpha-1(XVI) chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:22871179-22871742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10575 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:22964872-22965382 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:22988092-22988272 Neighboring gene uncharacterized LOC112268176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23079291-23079792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23104917-23105463 Neighboring gene ubiquitin specific peptidase 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7274

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. HS3ST2 expression induces the cell autonomous aggregation of tau. Huynh MB, et al. Sci Rep, 2022 Jun 27. PMID 35760982, Free PMC Article
    2. Heparan sulfate 3-O-sulfotransferase 2 (HS3ST2) displays an unexpected subcellular localization in the plasma membrane. Delos M, et al. Biochim Biophys Acta Gen Subj, 2018 Jul. PMID 29660372
    3. Epigenetic inactivation of heparan sulfate (glucosamine) 3-O-sulfotransferase 2 in lung cancer and its role in tumorigenesis. Hwang JA, et al. PLoS One, 2013. PMID 24265783, Free PMC Article
    4. A role for heparan sulfate 3-O-sulfotransferase isoform 2 in herpes simplex virus type 1 entry and spread. O'Donnell CD, et al. Virology, 2006 Mar 15. PMID 16336986
    5. Possible role of hsa-miR-194-5p, via regulation of HS3ST2, in the pathogenesis of atopic dermatitis in children. Meng L, et al. Eur J Dermatol, 2019 Dec 1. PMID 31903950

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HS3ST2 expression induces the cell autonomous aggregation of tau.
      Title: HS3ST2 expression induces the cell autonomous aggregation of tau.
    2. CpG Islands Methylation Analysis of CDH11, EphA5, and HS3ST2 Genes in Gastric Adenocarcinoma Patients.
      Title: CpG Islands Methylation Analysis of CDH11, EphA5, and HS3ST2 Genes in Gastric Adenocarcinoma Patients.
    3. Hsa-miR-194-5p might be involved in the pathogenesis of atopic dermatitis by regulating HS3ST2 expression.
      Title: Possible role of hsa-miR-194-5p, via regulation of HS3ST2, in the pathogenesis of atopic dermatitis in children.
    4. Methylation status of KLF4 and HS3ST2 genes as predictors of endometrial cancer and hyperplastic endometrial lesio
      Title: Methylation status of KLF4 and HS3ST2 genes as predictors of endometrial cancer and hyperplastic endometrial lesions.
    5. In primary macrophages, HS3ST2 was clearly visualized at the plasma membrane. Its truncated form remained in the Golgi apparatus, meaning that the catalytic domain might support correct addressing of HS3ST2 to cell surface. HS3ST2 partly co-localized with syndecan-2 in HeLa cells and primary macrophages suggesting that this enzyme may participate in discrete processes that occur at the cell surface.
      Title: Heparan sulfate 3-O-sulfotransferase 2 (HS3ST2) displays an unexpected subcellular localization in the plasma membrane.
    6. HS3ST2 and CCNA1 genes may play important roles in HPV-induced cervical cancer and patients with specific hypermethylated genes may have a greater risk of progressing to invasive cervical cancer.
      Title: Methylation in the promoters of HS3ST2 and CCNA1 genes is associated with cervical cancer in Uygur women in Xinjiang.
    7. By interacting with tau at the intracellular level, the 3-O-sulphated heparan sulphates produced by HS3ST2 might act as molecular chaperones allowing the abnormal phosphorylation of tau
      Title: HS3ST2 expression is critical for the abnormal phosphorylation of tau in Alzheimer's disease-related tau pathology.
    8. HS3ST2 hypermethylation may be an independent prognostic indicator for overall survival in node-negative stage I-II NSCLC
      Title: Epigenetic inactivation of heparan sulfate (glucosamine) 3-O-sulfotransferase 2 in lung cancer and its role in tumorigenesis.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity TAS
    Traceable Author Statement
    more info
    		  
    enables [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sulfotransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heparan sulfate glucosamine 3-O-sulfotransferase 2
    Names
    3-OST-2
    h3-OST-2
    heparan sulfate (glucosamine) 3-O-sulfotransferase 2
    heparan sulfate 3-O-sulfotransferase 2
    heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2
    heparin-glucosamine 3-O-sulfotransferase
    NP_006034.1
    XP_011544303.1
    XP_054170535.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006043.2 → NP_006034.1  heparan sulfate glucosamine 3-O-sulfotransferase 2

      See identical proteins and their annotated locations for NP_006034.1

      Status: REVIEWED

      Source sequence(s)
      AC130466, AF105375
      Consensus CDS
      CCDS10606.1
      UniProtKB/Swiss-Prot
      Q52LZ1, Q9Y278
      UniProtKB/TrEMBL
      B2R8Q2
      Related
      ENSP00000261374.3, ENST00000261374.4
      Conserved Domains (1) summary
      pfam00685
      Location:114 → 351
      Sulfotransfer_1; Sulfotransferase domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22814162..22916338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546001.4 → XP_011544303.1  heparan sulfate glucosamine 3-O-sulfotransferase 2 isoform X1

      Conserved Domains (1) summary
      cl21551
      Location:114 → 183
      Sulfotransfer_1; Sulfotransferase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      23091844..23194123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314560.1 → XP_054170535.1  heparan sulfate glucosamine 3-O-sulfotransferase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y278.1 GenPept UniProtKB/Swiss-Prot:Q9Y278

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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