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    HS6ST2 heparan sulfate 6-O-sulfotransferase 2 [ Homo sapiens (human) ]

    Gene ID: 90161, updated on 3-Apr-2024

    Summary

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    Official Symbol
    HS6ST2provided by HGNC
    Official Full Name
    heparan sulfate 6-O-sulfotransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:19133
    See related
    Ensembl:ENSG00000171004 MIM:300545; AllianceGenome:HGNC:19133
    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
    MRXSPM
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 4.4), ovary (RPKM 4.1) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq26.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132626015..132961370, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130950680..131286084, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131760043..132095398, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RAP2C antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:131545832-131546540 Neighboring gene muscleblind like splicing regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21007 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:131625860-131627059 Neighboring gene RNA, U6 small nuclear 98, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131804509-131805072 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:131805073-131805634 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:131805635-131806198 Neighboring gene HS6ST2 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:131844373-131845572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:131871877-131872377 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:131876916-131877717 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:131885035-131885616 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:131885617-131886198 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:131952550-131953135 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:132010050-132010582 Neighboring gene uncharacterized LOC124905219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:132092036-132092536 Neighboring gene NAA20 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:132143460-132143960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:132143961-132144461 Neighboring gene NANOG hESC enhancer GRCh37_chrX:132188783-132189284 Neighboring gene ubiquitin specific peptidase 26 Neighboring gene DEAD-box helicase 53 pseudogene

    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
    • 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. A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. Paganini L, et al. Clin Genet, 2019 Mar. PMID 30471091, Free PMC Article
    2. Downregulation of HS6ST2 by miR-23b-3p enhances matrix degradation through p38 MAPK pathway in osteoarthritis. Guo Y, et al. Cell Death Dis, 2018 Jun 13. PMID 29899528, Free PMC Article
    3. Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate an angiogenic program induced by heparin-binding epidermal growth factor (EGF)-like growth factor/EGF receptor signaling. Cole CL, et al. J Biol Chem, 2014 Apr 11. PMID 24563483, Free PMC Article
    4. Silencing of hHS6ST2 inhibits progression of pancreatic cancer through inhibition of Notch signalling. Song K, et al. Biochem J, 2011 Jun 1. PMID 21443520
    5. Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis. Zhang Y, et al. Bioengineered, 2022 Mar. PMID 35260044, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis.
      Title: Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis.
    3. we identified a novel c.916G>C variant in the HS6ST2 gene. The mutation caused a significantly reduction in HS6ST2 6-O-sulfotransferase activity and was associated with a previously undescribed form of syndromic XLID with severe congenital myopia
      Title: A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
    4. downregulated HS6ST2 targeted by miR-23b-3p promotes matrix degradation by activating p38 MAPK in chondrocytes and OA cartilage.
      Title: Downregulation of HS6ST2 by miR-23b-3p enhances matrix degradation through p38 MAPK pathway in osteoarthritis.
    5. RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
      Title: Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma Due to EXT1/2 and HS6ST1/2 Down-Regulation.
    6. HS6ST-1 and HS6ST-2 have roles in regulating the angiogenic program in ovarian cancer cells affecting HB-EGF signaling and subsequent expression of angiogenic cytokines by cancer cells
      Title: Ovarian cancer cell heparan sulfate 6-O-sulfotransferases regulate an angiogenic program induced by heparin-binding epidermal growth factor (EGF)-like growth factor/EGF receptor signaling.
    7. HS6ST2 knockdown disrupts epithelial-mesenchymal transition and suggesets that HS6ST2 potentiates Notch signaling in pancreatic cancer cells.
      Title: Silencing of hHS6ST2 inhibits progression of pancreatic cancer through inhibition of Notch signalling.
    8. we have characterized HS6ST-2 and HS6ST-1 human isologues, including their chromosomal localizations,HS6STs could also transfer sulfate to N -sulfoglucosamine residues located at the non-reducing terminal of HS with high affinity.
      Title: 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.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Paganini-Miozzo syndrome
    MedGen: C5193010 OMIM: 301025 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    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

    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

    Clone Names

    • MGC130022, MGC130023

    Gene Ontology Provided by GOA

    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 TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    heparan-sulfate 6-O-sulfotransferase 2
    Names
    HS6ST-2
    NP_001070656.1
    NP_001381002.1
    NP_001381003.1
    NP_671704.3
    XP_011529708.1
    XP_016885434.1
    XP_016885435.1
    XP_047298574.1
    XP_047298575.1
    XP_047298576.1
    XP_054184046.1
    XP_054184047.1
    XP_054184048.1
    XP_054184049.1
    XP_054184050.1
    XP_054184051.1

    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.

    Genomic

    1. NG_012840.2 RefSeqGene

      Range
      7741..340355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077188.2 → NP_001070656.1  heparan-sulfate 6-O-sulfotransferase 2 isoform L

      See identical proteins and their annotated locations for NP_001070656.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (L) represents the longer transcript and encodes the longer isoform (L).
      Source sequence(s)
      AB067776, AI253113, AK056706, BC110620
      Consensus CDS
      CCDS48170.1
      UniProtKB/Swiss-Prot
      Q96MM7
      Related
      ENSP00000429473.1, ENST00000521489.5
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 530
      Sulfotransfer_2; Sulfotransferase family

    2. NM_001394073.1 → NP_001381002.1  heparan-sulfate 6-O-sulfotransferase 2 isoform L

      Status: REVIEWED

      Source sequence(s)
      Z81365, Z86064
      Consensus CDS
      CCDS48170.1
      Related
      ENSP00000359870.3, ENST00000370833.7
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 530
      Sulfotransfer_2; Sulfotransferase family

    3. NM_001394074.1 → NP_001381003.1  heparan-sulfate 6-O-sulfotransferase 2 isoform S

      Status: REVIEWED

      Source sequence(s)
      Z81365, Z86064
      Consensus CDS
      CCDS48169.1
      UniProtKB/Swiss-Prot
      B9WRT4, B9WRT5, E9PDY5, Q2TB13, Q4VC07, Q6PIC4, Q86SM9, Q8N3T4, Q8NBN4, Q96MM7, Q96SJ4
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 490
      Sulfotransfer_2; Sulfotransferase family

    4. NM_147175.4 → NP_671704.3  heparan-sulfate 6-O-sulfotransferase 2 isoform S

      See identical proteins and their annotated locations for NP_671704.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (S) lacks an alternate in-frame segment, compared to variant L, resulting in a shorter protein (isoform S).
      Source sequence(s)
      AI253113, AK056706, BC110620
      Consensus CDS
      CCDS48169.1
      UniProtKB/Swiss-Prot
      B9WRT4, B9WRT5, E9PDY5, Q2TB13, Q4VC07, Q6PIC4, Q86SM9, Q8N3T4, Q8NBN4, Q96MM7, Q96SJ4
      Related
      ENSP00000359873.2, ENST00000370836.6
      Conserved Domains (1) summary
      pfam03567
      Location:225 → 490
      Sulfotransfer_2; Sulfotransferase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      132626015..132961370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442618.1 → XP_047298574.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X1

    2. XM_047442619.1 → XP_047298575.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X4

    3. XM_017029946.2 → XP_016885435.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X3

      UniProtKB/TrEMBL
      B7Z2U5

    4. XM_017029945.2 → XP_016885434.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

      UniProtKB/TrEMBL
      B7Z2U5
      Related
      ENSP00000491722.2, ENST00000640529.2
      Conserved Domains (1) summary
      pfam03567
      Location:79 → 384
      Sulfotransfer_2; Sulfotransferase family

    5. XM_011531406.2 → XP_011529708.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

      See identical proteins and their annotated locations for XP_011529708.1

      UniProtKB/TrEMBL
      B7Z2U5
      Related
      ENSP00000384013.5, ENST00000406696.5
      Conserved Domains (1) summary
      pfam03567
      Location:79 → 384
      Sulfotransfer_2; Sulfotransferase family

    6. XM_047442620.1 → XP_047298576.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      130950680..131286084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328071.1 → XP_054184046.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X1

    2. XM_054328075.1 → XP_054184050.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X4

    3. XM_054328074.1 → XP_054184049.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X3

    4. XM_054328073.1 → XP_054184048.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

    5. XM_054328072.1 → XP_054184047.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

    6. XM_054328076.1 → XP_054184051.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_147174.2: Suppressed sequence

      Description
      NM_147174.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MM7.2 GenPept UniProtKB/Swiss-Prot:Q96MM7

    Gene LinkOut

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

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