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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HS3ST6
heparan sulfate-glucosamine 3-sulfotransferase 6
Chromosome 16 Β· 16p13.3
NCBI Gene: 64711Ensembl: ENSG00000162040.7HGNC: HGNC:14178UniProt: Q96QI5
12PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
[heparan sulfate]-glucosamine 3-sulfotransferase activityheparan sulfate proteoglycan biosynthetic processGolgi membranesulfotransferase activityhereditary angioedemaesophageal adenocarcinomaesophageal squamous cell carcinomaatrial fibrillation
✦AI Summary

HS3ST6 encodes heparan sulfate-glucosamine 3-sulfotransferase 6, a Golgi-localized sulfotransferase that catalyzes 3-O-sulfation of heparan sulfate using PAPS as the sulfate donor 1. This enzyme-mediated modification generates heparan sulfate capable of serving as a cellular receptor for Herpes Simplex Virus-1 entry 2. Unlike the related 3-OST-1, HS3ST6 does not generate anticoagulant heparan sulfate variants. HS3ST6 mutations cause hereditary angioedema with normal C1-inhibitor (HAE-nC1-INH), a rare autosomal dominant disorder characterized by recurrent angioedema episodes 1. HS3ST6-associated HAE represents one of six genetic subtypes of HAE-nC1-INH, alongside mutations in F12, PLG, ANGPT1, KNG1, and MYOF 2. Clinical manifestations of HS3ST6-HAE include refractory angioedema with atypical, persistent lower extremity involvement extending beyond classical self-limiting presentations 3. Genetic screening for HS3ST6 mutations in patients with chr16 recurrent angioedema and normal C1-inhibitor enables identification of affected individuals and asymptomatic carriers at risk for life-threatening angioedema 4. Treatment with kallikrein inhibitors shows variable efficacy in HS3ST6 carriers, highlighting the need for individualized therapeutic approaches 3.

Sources cited
1
HS3ST6 mutations cause HAE-nC1-INH and are classified as a distinct genetic subtype of hereditary angioedema
PMID: 36609679
2
HS3ST6 encodes heparan sulfate-glucosamine 3-O-sulfotransferase 6 and causes nC1-INH-HAE; lists HS3ST6 among six genes causing HAE with normal C1-INH
PMID: 34065094
3
HS3ST6 variants are associated with refractory angioedema with persistent phenotypes and variable treatment response to lanadelumab
PMID: 40848077
4
HS3ST6 mutations can be identified through genetic screening in patients with chronic recurrent angioedema and normal C1-INH, enabling detection of asymptomatic carriers
PMID: 36787826
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hereditary angioedemaOpen Targets
0.36Weak
esophageal adenocarcinomaOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
nasopharyngeal neoplasmOpen Targets
0.01Suggestive
angioedemaOpen Targets
0.01Suggestive
chronic interstitial cystitisOpen Targets
0.01Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
atopic eczemaOpen Targets
0.01Suggestive
rosaceaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
acneOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
spina bifidaOpen Targets
0.00Suggestive
vulvar intraepithelial neoplasiaOpen Targets
0.00Suggestive
Angioedema, hereditary, 8UniProt
Pathogenic Variants1
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser)Pathogenic
Angioedema, hereditary, 8
β˜†β˜†β˜†β˜†2021β†’ Residue 144
View on ClinVar β†—
Related Genes
HS3ST4Shared pathway100%HS6ST3Shared pathway100%HS6ST2Shared pathway100%HS2ST1Protein interaction82%HS6ST1Shared pathway50%DSEShared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
43%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
HS3ST6HS3ST4HS6ST3HS6ST2HS2ST1HS6ST1DSE
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q96QI5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.35 [0.86–1.89]
RankingsWhere HS3ST6 stands among ~20K protein-coding genes
  • #16,475of 20,598
    Most Researched12
  • #5,462of 5,498
    Most Pathogenic Variants1
  • #17,146of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedHS3ST6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
PMID: 36609679
Adv Ther Β· 2023
1.00
2
Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.
PMID: 36787826
J Allergy Clin Immunol Pract Β· 2023
0.90
3
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
PMID: 36348183
J Clin Immunol Β· 2023
0.80
4
The Genetics of Hereditary Angioedema: A Review.
PMID: 34065094
J Clin Med Β· 2021
0.70
5
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
PMID: 40848077
J Clin Immunol Β· 2025
0.60