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

Gene ID: 90161, updated on 27-Nov-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
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Genomic context

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See HS6ST2 in Genome Data Viewer
Location:
Xq26.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132626015..132961370, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130950680..131286084, complement)
RS_2024_09 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 Inhibits Cervical Cancer Cell Migration and Invasion in Vivo and in Vitro. Li S, et al. Discov Med, 2023 Dec. PMID 38058080
  3. Silencing of hHS6ST2 inhibits progression of pancreatic cancer through inhibition of Notch signalling. Song K, et al. Biochem J, 2011 Jun 1. PMID 21443520
  4. 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
  5. 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

See all (31) 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
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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)

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_2024_08

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 [email protected] for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MM7.2 GenPept UniProtKB/Swiss-Prot:Q96MM7

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