STX6

Chr 1

syntaxin 6

NCBI Gene: 10228ENSG00000135823UniProt: O43752OMIM: 603944

Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in regulation of protein localization; retrograde transport, endosome to Golgi; and vesicle fusion. Acts upstream of or within endocytic recycling. Located in early endosome; perinuclear region of cytoplasm; and trans-Golgi network. Part of SNARE complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.010
Z-score 2.29
OE 0.38 (0.21–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.43Z-score
OE missense 0.90 (0.78–1.04)
129 obs / 143.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.21–0.75)
0≤0.351.4
Missense OE?0.90 (0.78–1.04)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 6 / 15.8Missense obs/exp: 129 / 143.6Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STX6 · 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 →

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