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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HS6ST2
heparan sulfate 6-O-sulfotransferase 2
Chromosome X Β· Xq26.2
NCBI Gene: 90161Ensembl: ENSG00000171004.19HGNC: HGNC:19133UniProt: Q96MM7
33PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
heparan sulfate 6-sulfotransferase activityheparan sulfate proteoglycan biosynthetic processGolgi membraneGolgi apparatusPaganini-Miozzo syndromeneurodegenerative diseasecancercolorectal carcinoma
✦AI Summary

HS6ST2 is a heparan sulfate 6-O-sulfotransferase that catalyzes the transfer of sulfate from PAPS to the N-sulfoglucosamine residue of heparan sulfate proteoglycans, localizing to the Golgi membrane 1. This enzyme is predominantly expressed in brain tissue and plays critical roles in multiple physiological and pathological processes. In the central nervous system, HS6ST2 is essential for normal cognitive function and memory. Knockout of Hs6st2 in mice decreases HS 6-O-sulfation levels, impairs dendritic spine morphology in hippocampal CA1 neurons, disrupts hippocampal transcriptome expression in dendrite and synapse pathways, and causes memory deficits that recapitulate patient symptoms 1. A pathogenic HS6ST2 mutation (c.916G>C, G306R) affecting the substrate binding site was identified in male twins with X-linked intellectual disability, severe myopia, and mild facial dysmorphisms, with in-vitro studies confirming significantly reduced enzymatic activity 2. Outside the brain, HS6ST2 dysregulation associates with cancer and cartilage pathology. HS6ST2 upregulation promotes cervical cancer cell proliferation, migration, and invasion; high expression correlates with lymph node metastasis and poor survival outcomes 3. Conversely, HS6ST2 downregulation occurs in osteoarthritis and Kashin-Beck disease, where it suppresses chondrocyte viability and impairs aggrecan metabolism 4, potentially through miR-23b-3p-mediated regulation and p38 MAPK pathway activation 5. Pan-cancer analysis reveals HS6ST2 functions as a prognostic marker across multiple malignancies through effects on tumor immunity and drug resistance 6.

Sources cited
1
HS6ST2 is mainly expressed in brain, its knockout decreases HS 6-O-sulfation, impairs hippocampal dendritic spines, and causes memory deficits
PMID: 38015989
2
HS6ST2 mutation (G306R) in X-linked intellectual disability and severe myopia cases shows reduced sulfotransferase activity and affects substrate binding
PMID: 30471091
3
HS6ST2 upregulation promotes cervical cancer cell proliferation and invasion; high expression correlates with poor survival outcomes
PMID: 38058080
4
HS6ST2 is downregulated in osteoarthritis and Kashin-Beck disease cartilage; its suppression inhibits chondrocyte viability and aggrecan metabolism
PMID: 21972422
5
miR-23b-3p targets HS6ST2 downregulation, which enhances matrix degradation through p38 MAPK pathway activation in osteoarthritis
PMID: 29899528
6
Pan-cancer analysis shows HS6ST2 functions as prognostic marker across 33 cancer types with effects on tumor immunity and drug resistance
PMID: 37932473
Disease Associationsβ“˜21
Paganini-Miozzo syndromeOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
clear cell renal carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
bladder transitional cell carcinomaOpen Targets
0.04Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
kidney oncocytomaOpen Targets
0.03Suggestive
microphthalmia with limb anomaliesOpen Targets
0.03Suggestive
Invasive Breast CarcinomaOpen Targets
0.03Suggestive
chromophobe renal cell carcinomaOpen Targets
0.03Suggestive
gastric adenocarcinomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Uveal MelanomaOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
Paganini-Miozzo syndromeUniProt
Pathogenic Variants1
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg)Pathogenic
Paganini-Miozzo syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 306
View on ClinVar β†—
Related Genes
HS3ST4Shared pathway100%HS3ST6Shared pathway100%HS6ST3Shared pathway100%HS2ST1Protein interaction83%GPC3Protein interaction75%HS6ST1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Brain
26%
Heart
1%
Lung
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HS6ST2HS3ST4HS3ST6HS6ST3HS2ST1GPC3HS6ST1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96MM7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.52 [0.35–0.77]
RankingsWhere HS6ST2 stands among ~20K protein-coding genes
  • #11,351of 20,598
    Most Researched33
  • #5,234of 5,498
    Most Pathogenic Variants1
  • #6,283of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedHS6ST2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Downregulation of HS6ST2 Inhibits Cervical Cancer Cell Migration and Invasion
PMID: 38058080
Discov Med Β· 2023
1.00
2
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
PMID: 30471091
Clin Genet Β· 2019
0.90
3
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.
PMID: 38015989
Glycobiology Β· 2024
0.80
4
Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.
PMID: 39630030
Essays Biochem Β· 2024
0.70
5
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.
PMID: 21972422
Rheumatology (Oxford) Β· 2011
0.60