STX11

Chr 6

syntaxin 11

Also known as: FHL4, HLH4, HPLH4

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHemophagocytic lymphohistiocytosis, familial, 4

Clinical highlights

Gene-disease validity (ClinGen)
familial hemophagocytic lymphohistiocytosis 4 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
23
Pubs (1 yr)
P/LP submissions
P/LP missense
1.38
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — STX11
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.38LOEUF
pLI 0.000
Z-score 0.81
OE 0.70 (0.381.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.03 (0.921.15)
211 obs / 205.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.381.38)
00.351.4
Missense OE?1.03 (0.921.15)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 6 / 8.5Missense obs/exp: 211 / 205.7Syn Z: 0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

STX11 · 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

No active trials found for this gene.

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