HS2ST1: Heparan Sulfate 2-O-Sulfotransferase 1
Key enzyme in heparan sulfate biosynthesis, involved in cell signaling and development
Gene Information Card
| Symbol | HS2ST1 |
|---|---|
| Full Name | Heparan Sulfate 2-O-Sulfotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 9653 ncbi.nlm.nih.gov/gene/9653 |
| Ensembl ID | ENSG00000117640 |
| UniProt ID | Q7LGA3 |
| OMIM ID | 604844 |
| HGNC ID | 5193 |
| Aliases | HS2ST, 2OST, MGC131986 |
Description
HS2ST1 encodes heparan sulfate 2-O-sulfotransferase, an enzyme that catalyzes the transfer of sulfate to the 2-O position of iduronic acid residues in heparan sulfate. This modification is critical for heparan sulfate's role in binding growth factors, cytokines, and extracellular matrix components, influencing cell signaling, development, and angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heparan sulfate deficiency with developmental delay | Loss of HS2ST1 function disrupts heparan sulfate sulfation, impairing FGF and Wnt signaling | ClinVar; PMID: 28492532 |
| Skeletal dysplasia (rare) | Altered proteoglycan sulfation affects cartilage development | OMIM #604844; case reports |
| Cancer (various) | Dysregulated HS2ST1 expression alters tumor microenvironment and growth factor signaling | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Placenta | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Moderate expression |
| HeLa | 9.8 | Low expression |
| HepG2 | 11.2 | Moderate expression |
| SH-SY5Y | 16.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Likely loss of function; reduced enzymatic activity |
| c.1240_1241del (p.Leu414fs) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense variants that reduce or abolish sulfotransferase activity, leading to undersulfated heparan sulfate.
Gain of Function (GOF)
Not reported in HS2ST1.
Dominant Negative (DN)
Not reported in HS2ST1.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • cytoplasm (GO:0005737) |
| • Golgi apparatus (GO:0005794) | • carbohydrate metabolic process (GO:0005975) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015014) | • galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018) |
Pathways
• Heparan sulfate biosynthesis (Reactome: R-HSA-2022928)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
• Signaling by FGFR (Reactome: R-HSA-190236)
Protein Summary
HS2ST1 is a 356-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes 2-O-sulfation of iduronic acid in heparan sulfate chains, a modification essential for high-affinity binding of FGF, VEGF, and other ligands. The enzyme is widely expressed, with highest levels in testis, placenta, and brain. Loss-of-function mutations cause developmental disorders and are implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS2ST1 Knockout HEK293 Cell Line | EDJ-KQ6678 | Human | 9653 | Details Get a Quote |
| HS2ST1 Knockout A-549 Cell Line | EDJ-KQ31005 | Human | 9653 | Details Get a Quote |
| HS2ST1 Knockout HCT 116 Cell Line | EDJ-KQ31006 | Human | 9653 | Details Get a Quote |
| HS2ST1 Knockout HeLa Cell Line | EDJ-KQ31007 | Human | 9653 | Details Get a Quote |
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