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STX11

Chr 6q24.2

syntaxin 11

MANE:
ENST00000367568.5

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

Disease associations (Open Targets)

  • Familial hemophagocytic lymphohistiocytosis

    0.77
  • hereditary hemophagocytic lymphohistiocytosis

    0.38
  • Alkalosis

    0.34
  • Abnormal nasolacrimal system morphology

    0.30
  • hereditary disease

    0.19
  • autoinflammatory syndrome

    0.18
  • breast cancer

    0.08
  • mature T-cell and NK-cell non-Hodgkin lymphoma

    0.07
  • X-linked lymphoproliferative disease

    0.06
  • immunodeficiency 86

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Syntaxin-11

SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:10036234, PubMed:24227526, PubMed:26771955, PubMed:28265073). Syntaxin-11/STX11 is an atypical lipid-anchored t-SNARE that forms a SNARE complex with the t-SNARE SNAP23 and the v-SNARE VAMP8. This SNARE complex plays a critical role in the regulated exocytosis of cytotoxic granules by natural killer (NK) cells and cytotoxic T-lymphocytes (PubMed:17525286, PubMed:19804848, PubMed:19884660, PubMed:24227526, PubMed:26771955, PubMed:28265073). In macrophages, STX11 regulates stimulus-dependent vesicular transport of TLR4 from recycling endosomes to the plasma membrane by cooperating with SNAP23, thereby playing a critical role in microbial component recognition and the induction of innate and adaptive immunity (By similarity). In skeletal muscle satellite cells, STX11 cooperates with its cognate SNAREs VAMP4 and SNAP23 to facilitate CD36 vesicular transport from endosomes to the plasma membrane, an essential step in muscle regeneration (By similarity). In another proposed mechanism, STX11 may function as a regulator of the SNARE VTI1B on late endosomes to regulate trafficking from late endosomes to lysosomes (PubMed:21388490)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.