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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HS2ST1
heparan sulfate 2-O-sulfotransferase 1
Chromosome 1 Β· 1p22.3
NCBI Gene: 9653Ensembl: ENSG00000153936.18HGNC: HGNC:5193UniProt: Q7LGA3
59PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneheparan sulfate proteoglycan biosynthetic processheparan sulfate 2-sulfotransferase activityGolgi membraneneurofacioskeletal syndrome with or without renal agenesisIntellectual disabilityarthrogryposisdevelopmental disorder of mental health
✦AI Summary

HS2ST1 (heparan sulfate 2-O-sulfotransferase 1) catalyzes the transfer of sulfate groups from PAPS to iduronic acid or glucuronic acid residues within heparan sulfate chains, a critical step in heparan sulfate proteoglycan biosynthesis 1. This 2-O-sulfation is essential for heparan sulfate-mediated signaling, particularly in kidney development where it facilitates communication between the ureteric bud and metanephric mesenchyme. Bi-allelic HS2ST1 mutations cause a recognizable syndrome characterized by developmental delay, corpus callosum abnormalities, skeletal dysplasia, and renal agenesis, with affected fibroblasts showing impaired FGF-2-mediated MAPK signaling 1. In cancer contexts, HS2ST1 dysregulation has complex, disease-specific effects. High HS2ST1 expression predicts poor prognosis in osteosarcoma, hepatocellular carcinoma, and breast cancer, correlating with enhanced glycolytic and invasive phenotypes 23. In breast cancer, HS2ST1 modulates cell invasiveness through altered E-cadherin and EGFR expression, reducing MAPK signaling responses to FGF-2 4. HS2ST1 also regulates tumor angiogenesis; cancer-derived exosomal miR-421 promotes angiogenesis by suppressing HS2ST1 in endothelial cells 5. Additionally, HS2ST1 expression correlates with vascular inflammation under high-salt conditions 6, highlighting its broader role in inflammatory signaling pathways.

Sources cited
1
HS2ST1 catalyzes 2-O-sulfation of heparan sulfate; bi-allelic mutations cause developmental delay, corpus callosum abnormalities, skeletal dysplasia, and renal agenesis; affected cells show impaired FGF-2-mediated MAPK signaling
PMID: 33159882
2
HS2ST1 is significantly upregulated in osteosarcoma and serves as a prognostic biomarker associated with poor survival and glycolytic pathways
PMID: 36086752
3
High HS2ST1 expression in hepatocellular carcinoma correlates with poor prognosis and associates with cell cycle progression, mTORC1 signaling, and reduced immune cell infiltration
PMID: 39153155
4
In breast cancer, HS2ST1 modulates cell invasiveness through altered E-cadherin and EGFR expression and reduces MAPK signaling responses to FGF-2
PMID: 32573871
5
Cancer-derived exosomal miR-421 targets HS2ST1 in vascular endothelial cells to promote angiogenesis through VEGF/VEGFR2 pathway activation
PMID: 39062818
6
HS2ST1 expression is associated with increased vascular inflammation under high-salt diet conditions
PMID: 33161775
Disease Associationsβ“˜21
neurofacioskeletal syndrome with or without renal agenesisOpen Targets
0.71Strong
Intellectual disabilityOpen Targets
0.53Moderate
arthrogryposisOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOpen Targets
0.37Weak
breast benign neoplasmOpen Targets
0.26Weak
appendicitisOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.17Weak
skin diseaseOpen Targets
0.16Weak
gestational diabetesOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
lacrimal apparatus diseaseOpen Targets
0.09Suggestive
brain cancerOpen Targets
0.09Suggestive
nervous system cancerOpen Targets
0.08Suggestive
musculoskeletal system diseaseOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
Neurofacioskeletal syndrome with or without renal agenesisUniProt
Pathogenic Variants6
NM_012262.4(HS2ST1):c.95_100del (p.Gln32_Lys33del)Likely pathogenic
Neurofacioskeletal syndrome with or without renal agenesis
β˜…β˜†β˜†β˜†2024β†’ Residue 32
NM_012262.4(HS2ST1):c.342del (p.Pro114_Val115insTer)Pathogenic
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
β˜†β˜†β˜†β˜†2021β†’ Residue 114
NM_012262.4(HS2ST1):c.527T>C (p.Phe176Ser)Pathogenic
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
β˜†β˜†β˜†β˜†2021β†’ Residue 176
NM_012262.4(HS2ST1):c.493G>T (p.Asp165Tyr)Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis
β˜†β˜†β˜†β˜†2021β†’ Residue 165
NM_012262.4(HS2ST1):c.59_62delinsGAA (p.Phe20_Ala21delinsTer)Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis
β˜†β˜†β˜†β˜†2021β†’ Residue 20
NM_012262.4(HS2ST1):c.567A>C (p.Arg189Ser)Pathogenic
Neurofacioskeletal syndrome with or without renal agenesis
β˜†β˜†β˜†β˜†2021β†’ Residue 189
View on ClinVar β†—
Related Genes
HS6ST3Shared pathway100%HS3ST4Shared pathway100%SDC1Protein interaction100%EXT1Protein interaction84%EXT2Protein interaction84%GPC1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Heart
58%
Liver
50%
Ovary
42%
Lung
34%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
HS2ST1HS6ST3HS3ST4SDC1EXT1EXT2GPC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7LGA3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.23Tolerant
Observed/Expected LoF0.42 [0.27–0.68]
RankingsWhere HS2ST1 stands among ~20K protein-coding genes
  • #7,780of 20,598
    Most Researched59
  • #3,383of 5,498
    Most Pathogenic Variants6
  • #5,105of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedHS2ST1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Two novel predictive biomarkers for osteosarcoma and glycolysis pathways: A profiling study on HS2ST1 and SDC3.
PMID: 36086752
Medicine (Baltimore) Β· 2022
1.00
2
HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior.
PMID: 32573871
Cancer Sci Β· 2020
0.90
3
Prognostic significance of HS2ST1 expression in patients with hepatocellular carcinoma.
PMID: 39153155
Genes Genomics Β· 2024
0.80
4
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
PMID: 33159882
Am J Hum Genet Β· 2020
0.70
5
Chromosome 2 Fragment Substitutions in Dahl Salt-Sensitive Rats and RNA Sequencing Identified
PMID: 33161775
Hypertension Β· 2021
0.60