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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
STX11
syntaxin 11
Chromosome 6 Β· 6q24.2
NCBI Gene: 8676Ensembl: ENSG00000135604.12HGNC: HGNC:11429UniProt: O75558
65PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SNARE complexfusogenic activitySNAP receptor activityprotein bindingFamilial hemophagocytic lymphohistiocytosishereditary hemophagocytic lymphohistiocytosisAlkalosisAbnormal nasolacrimal system morphology
✦AI Summary

STX11 encodes syntaxin 11, a SNARE protein that mediates vesicle fusion and membrane trafficking processes critical for immune cell function. The protein facilitates fusion of cytotoxic granules with plasma membranes at immunological synapses in CD8+ T cells and NK cells, enabling cytotoxic granule exocytosis 1. STX11 also regulates CD107a and CD40L surface mobilization and cytokine secretion in CD4+ T cells, supporting T cell-B cell interactions and humoral immunity 1. Beyond immune function, STX11 undergoes dynamic palmitoylation that controls fatty acid uptake in muscle stem cells by facilitating CD36 translocation through SNARE complex formation, promoting muscle regeneration 2. Pathogenic variants in STX11 cause familial hemophagocytic lymphohistiocytosis type 4 (FHL-4), a severe hyperinflammatory syndrome with high mortality 34. STX11 deficiency impairs both cytotoxic function and humoral immunity, as patients exhibit hypogammaglobulinemia and altered B cell populations 1. Mutations in STX11 represent a significant portion of genetic HLH cases, accounting for part of the degranulation defect genes that collectively comprise >50% of diagnosed cases 4. The protein's diverse roles in immune cell degranulation, T-B cell interactions, and tissue regeneration highlight its importance in both innate and adaptive immunity.

Sources cited
1
STX11 mediates cytotoxic granule fusion at immunological synapses and regulates CD4+ T cell functions including CD107a/CD40L mobilization and cytokine secretion
PMID: 38722309
2
STX11 undergoes dynamic palmitoylation to control fatty acid uptake in muscle stem cells through CD36 translocation and SNARE complex formation
PMID: 38198890
3
STX11 mutations cause familial hemophagocytic lymphohistiocytosis, a severe hyperinflammatory syndrome with high mortality
PMID: 32107531
4
STX11 mutations represent part of degranulation defect genes that collectively account for >50% of genetic HLH cases
PMID: 32542393
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.78Strong
hereditary hemophagocytic lymphohistiocytosisOpen Targets
0.37Weak
AlkalosisOpen Targets
0.35Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
autoinflammatory syndromeOpen Targets
0.18Weak
neoplasmOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
Meniere diseaseOpen Targets
0.08Suggestive
mature T-cell and NK-cell non-Hodgkin lymphomaOpen Targets
0.08Suggestive
premature birthOpen Targets
0.05Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.05Suggestive
pulmonary fibrosisOpen Targets
0.05Suggestive
Immunodeficiency by defective expression of HLA class 2Open Targets
0.05Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.05Suggestive
Transcobalamin deficiencyOpen Targets
0.05Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.05Suggestive
Hemophagocytic lymphohistiocytosis, familial, 4UniProt
Pathogenic Variants32
NM_003764.4(STX11):c.396C>A (p.Tyr132Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2026β†’ Residue 132
NM_003764.4(STX11):c.73G>T (p.Glu25Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2025β†’ Residue 25
NM_003764.4(STX11):c.697del (p.Val233fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2025β†’ Residue 233
NM_003764.4(STX11):c.157_160del (p.Asp53fs)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2024β†’ Residue 53
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4|not provided|Familial hemophagocytic lymphohistiocytosis
β˜…β˜…β˜†β˜†2024β†’ Residue 58
NM_003764.4(STX11):c.554dup (p.Trp186fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2024β†’ Residue 186
NM_003764.4(STX11):c.83C>A (p.Ser28Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2024β†’ Residue 28
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2024β†’ Residue 131
NM_003764.4(STX11):c.645dup (p.Arg216fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2023β†’ Residue 216
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2023β†’ Residue 162
NM_003764.4(STX11):c.581_584del (p.Leu194fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜…β˜†β˜†2023β†’ Residue 194
NM_003764.4(STX11):c.599_602del (p.Ala200fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2025β†’ Residue 200
NM_003764.4(STX11):c.490C>T (p.Gln164Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2025β†’ Residue 164
NM_003764.4(STX11):c.785_791del (p.Gln262fs)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2024β†’ Residue 262
NM_003764.4(STX11):c.794del (p.Lys265fs)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2024β†’ Residue 265
NM_003764.4(STX11):c.337_352dup (p.His118delinsArgGlyTer)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2024β†’ Residue 118
NM_003764.4(STX11):c.334G>T (p.Glu112Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2023β†’ Residue 112
NM_003764.4(STX11):c.568dup (p.Ser190fs)Likely pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2023β†’ Residue 190
NM_003764.4(STX11):c.127_133del (p.Ser43fs)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2023β†’ Residue 43
NM_003764.4(STX11):c.748C>T (p.Gln250Ter)Pathogenic
Familial hemophagocytic lymphohistiocytosis 4
β˜…β˜†β˜†β˜†2023β†’ Residue 250
View on ClinVar β†—
Related Genes
STXBP1Protein interaction100%VTI1AProtein interaction100%FHL2Protein interaction99%RAB27AProtein interaction99%AP3B1Protein interaction99%VTI1BProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
37%
Heart
8%
Liver
3%
Brain
2%
Ovary
1%
Gene Interaction Network
Click a node to explore
STX11STXBP1VTI1AFHL2RAB27AAP3B1VTI1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75558
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.50LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.04 [0.74–1.50]
RankingsWhere STX11 stands among ~20K protein-coding genes
  • #7,209of 20,598
    Most Researched65
  • #1,760of 5,498
    Most Pathogenic Variants32
  • #15,182of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedSTX11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pediatric hemophagocytic lymphohistiocytosis.
PMID: 32107531
Blood Β· 2020
1.00
2
Overexpression of STX11 alleviates pulmonary fibrosis by inhibiting fibroblast activation via the PI3K/AKT/mTOR pathway.
PMID: 39523374
Signal Transduct Target Ther Β· 2024
0.90
3
Dynamic palmitoylation of STX11 controls injury-induced fatty acid uptake to promote muscle regeneration.
PMID: 38198890
Dev Cell Β· 2024
0.80
4
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
PMID: 32542393
Blood Adv Β· 2020
0.70
5
SNAREs and developmental disorders.
PMID: 32959907
J Cell Physiol Β· 2021
0.60