HS2ST1
Chr 1ARheparan sulfate 2-O-sulfotransferase 1
Also known as: 2-OST, NFSRA, dJ604K5.2
HS2ST1 encodes heparan sulfate 2-O-sulfotransferase 1, which catalyzes the transfer of sulfate groups to the 2-OH position of iduronic acid or glucuronic acid residues within heparan sulfate chains during biosynthesis. Biallelic mutations cause neurofacioskeletal syndrome with or without renal agenesis, an autosomal recessive disorder affecting the nervous system, skeletal development, and kidney formation. The gene shows significant constraint against loss-of-function variants (LOEUF 0.465), consistent with its essential role in development.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
85 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 3 | 12 | 0 | 16 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 41 | 3 | 0 | 44 |
Likely Benign | 0 | 3 | 0 | 5 | 8 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 1 | 47 | 19 | 5 | 72 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HS2ST1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools