HS3ST4

Chr 16

heparan sulfate-glucosamine 3-sulfotransferase 4

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

NCBI Gene: 9951ENSG00000182601UniProt: Q9Y661

This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]

0
Active trials
30
Pathogenic / LP
100
ClinVar variants
3
Pubs (1 yr)
0.9
Missense Z
0.49
LOEUF
Clinical Summary— HS3ST4
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 66 VUS of 100 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.796
Z-score 2.57
OE 0.10 (0.04–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.87Z-score
OE missense 0.82 (0.72–0.94)
158 obs / 192.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.04–0.49)
0≤0.351.4
Missense OE0.82 (0.72–0.94)
0≤0.61.4
Synonymous OE1.20
0≤1.21.6
LoF obs/exp: 1 / 9.6Missense obs/exp: 158 / 192.0Syn Z: -1.43

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic3
VUS66
Likely Benign3
Benign1
27
Pathogenic
3
Likely Pathogenic
66
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
3
0
3
VUS
0
60
6
0
66
Likely Benign
0
0
2
1
3
Benign
0
0
1
0
1
Total060391100

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

HS3ST4 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients