HS3ST4

Chr 16

heparan sulfate-glucosamine 3-sulfotransferase 4

Also known as: 3-OST-4, 30ST4, 3OST4, h3-OST-4

The HS3ST4 protein is a sulfotransferase enzyme that catalyzes the transfer of sulfate groups to specific glucosamine residues in heparan sulfate, modifying this important cell surface glycosaminoglycan. This gene is highly constrained against loss-of-function variants, but disease-causing mutations and associated clinical phenotypes have not yet been established in humans. Inheritance pattern remains to be determined as pathogenic variants have not been reported.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.49
Clinical SummaryHS3ST4
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.796
Z-score 2.57
OE 0.10 (0.040.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.87Z-score
OE missense 0.82 (0.720.94)
158 obs / 192.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.040.49)
00.351.4
Missense OE0.82 (0.720.94)
00.61.4
Synonymous OE1.20
01.21.6
LoF obs/exp: 1 / 9.6Missense obs/exp: 158 / 192.0Syn Z: -1.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HS3ST4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found