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    Hs6st2 heparan sulfate 6-O-sulfotransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 50786, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Hs6st2provided by MGI
    Official Full Name
    heparan sulfate 6-O-sulfotransferase 2provided by MGI
    Primary source
    MGI:MGI:1354959
    See related
    Ensembl:ENSMUSG00000062184 AllianceGenome:MGI:1354959
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    6OST2
    Summary
    Enables heparan sulfate 6-O-sulfotransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Is active in Golgi apparatus. Is expressed in several structures, including brain; embryo mesenchyme; eye; foot bone; and genitourinary system. Human ortholog(s) of this gene implicated in Paganini-Miozzo syndrome. Orthologous to human HS6ST2 (heparan sulfate 6-O-sulfotransferase 2). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in CNS E18 (RPKM 5.4), limb E14.5 (RPKM 4.6) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hs6st2 in Genome Data Viewer
    Location:
    X A5; X 28.04 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (50476084..50770643, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (51386637..51681705, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 3-like 2 pseudogene Neighboring gene predicted gene, 57669 Neighboring gene STARR-seq mESC enhancer starr_47162 Neighboring gene STARR-seq mESC enhancer starr_47163 Neighboring gene predicted gene, 35727 Neighboring gene STARR-seq mESC enhancer starr_47164 Neighboring gene STARR-seq mESC enhancer starr_47165 Neighboring gene ubiquitin specific peptidase 26 Neighboring gene predicted gene, 22539

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Knockout of the intellectual disability-linked gene Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory. Moon S, et al. Glycobiology, 2024 Mar 26. PMID 38015989,
    2. Down-regulated HS6ST2 in osteoarthritis and Kashin-Beck disease inhibits cell viability and influences expression of the genes relevant to aggrecan metabolism of human chondrocytes. Wang W, et al. Rheumatology (Oxford), 2011 Dec. PMID 21972422
    3. Overexpression of heparan sulfate 6-O-sulfotransferase-2 enhances fibroblast growth factor-mediated chondrocyte growth and differentiation. Wang W, et al. Int J Mol Med, 2015 Sep. PMID 26133911
    4. Downregulation of HS6ST2 Inhibits Cervical Cancer Cell Migration and Invasion in Vivo and in Vitro. Li S, et al. Discov Med, 2023 Dec. PMID 38058080
    5. Heparan sulfate 6-O-sulfotransferase isoform-dependent regulatory effects of heparin on the activities of various proteases in mast cells and the biosynthesis of 6-O-sulfated heparin. Anower-E-Khuda MF, et al. J Biol Chem, 2013 Feb 8. PMID 23223449, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockout of the intellectual disability-linked gene Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory.
      Title: Knockout of the intellectual disability-linked gene Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory.
    2. Downregulation of HS6ST2 Inhibits Cervical Cancer Cell Migration and Invasion in Vivo and in Vitro.
      Title: Downregulation of HS6ST2 Inhibits Cervical Cancer Cell Migration and Invasion in Vivo and in Vitro.
    3. Overexpression or silencing of HS6ST2 significantly enhanced or abrogated the effects of fibroblast growth factor (FGF)2 on chondrocyte growth, respectively.
      Title: Overexpression of heparan sulfate 6-O-sulfotransferase-2 enhances fibroblast growth factor-mediated chondrocyte growth and differentiation.
    4. Hs6st2 knockout mice had increased body weight, insulin resistance and high thyroid hormone level.
      Title: Involvement of heparan sulfate 6-O-sulfation in the regulation of energy metabolism and the alteration of thyroid hormone levels in male mice.
    5. both HS6ST-1 and HS6ST-2 are involved in 6-O-sulfation of heparin and that the proper packaging and storage of tryptase
      Title: Heparan sulfate 6-O-sulfotransferase isoform-dependent regulatory effects of heparin on the activities of various proteases in mast cells and the biosynthesis of 6-O-sulfated heparin.
    6. Results indicate that HS6ST2 gene influences expression of genes linked to aggrecan metabolism and is implicated in pathogenesis of osteoarthritis.
      Title: Down-regulated HS6ST2 in osteoarthritis and Kashin-Beck disease inhibits cell viability and influences expression of the genes relevant to aggrecan metabolism of human chondrocytes.
    7. Data show that high expression of 6-O-sulfotransferase (6-OST)-1, 2, or 3 resulted in increased 6-O-sulfation of N-sulfated and N-acetylated glucosamine units, and in altered heparan sulfate domain structure.
      Title: Overexpression of heparan sulfate 6-O-sulfotransferases in human embryonic kidney 293 cells results in increased N-acetylglucosaminyl 6-O-sulfation.
    8. 6OST2 is more mesenchymal than its isoenzymes during development
      Title: Differential expression of heparan sulfate 6-O-sulfotransferase isoforms in the mouse embryo suggests distinctive roles during organogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables heparan sulfate 6-O-sulfotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparan sulfate 6-O-sulfotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heparan-sulfate 6-O-sulfotransferase 2
    NP_001070670.1
    NP_001277396.1
    NP_001277397.1
    NP_001413099.1
    NP_001413100.1
    NP_001413101.1
    NP_001413106.1
    NP_001413108.1
    NP_056634.3
    XP_036017898.1

    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_001077202.3 → NP_001070670.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL671918, AL672057
      Consensus CDS
      CCDS40970.1
      UniProtKB/Swiss-Prot
      Q80UW0
      Related
      ENSMUSP00000085497.6, ENSMUST00000088172.12
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 530
      Sulfotransfer_2; Sulfotransferase family

    2. NM_001290467.2 → NP_001277396.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 3

      See identical proteins and their annotated locations for NP_001277396.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AL671918, AL672057
      Consensus CDS
      CCDS72379.1
      UniProtKB/Swiss-Prot
      A2AEM4, Q3TAR0, Q6P4N9, Q80UW0, Q8C785, Q9QYK6
      Related
      ENSMUSP00000110521.2, ENSMUST00000114871.2
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 490
      Sulfotransfer_2; Sulfotransferase family

    3. NM_001290468.2 → NP_001277397.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001277397.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1. Variants 4 and 6 both encode the same isoform (4).
      Source sequence(s)
      AL671918, AL672057
      UniProtKB/Swiss-Prot
      Q80UW0
      Conserved Domains (1) summary
      pfam03567
      Location:79 → 384
      Sulfotransfer_2; Sulfotransferase family

    4. NM_001426170.1 → NP_001413099.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL671918, AL672057

    5. NM_001426171.1 → NP_001413100.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL671918, AL672057

    6. NM_001426172.1 → NP_001413101.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL671918, AL672057

    7. NM_001426177.1 → NP_001413106.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL672057

    8. NM_001426179.1 → NP_001413108.1  heparan-sulfate 6-O-sulfotransferase 2 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672057

    9. NM_015819.5 → NP_056634.3  heparan-sulfate 6-O-sulfotransferase 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_056634.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks multiple exons in the 5' and central coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and is shorter than isoform 1. Variants 2 and 7 both encode the same isoform (2).
      Source sequence(s)
      AL671918, AL672057
      UniProtKB/Swiss-Prot
      Q80UW0
      Conserved Domains (1) summary
      pfam03567
      Location:79 → 344
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      50476084..50770643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162005.1 → XP_036017898.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X3

      Conserved Domains (1) summary
      pfam03567
      Location:79 → 344
      Sulfotransfer_2; Sulfotransferase family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80UW0.3 GenPept UniProtKB/Swiss-Prot:Q80UW0

    Gene LinkOut

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