Gene
STX11
syntaxin 11
- HGNC 11429↗(opens in a new tab)
- Ensembl gene ENSG00000135604↗(opens in a new tab)
- NCBI Gene 8676↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q24.2
- Coordinates
- Chromosome 6: 144,150,517–144,191,939 (GRCh38)
- Exons
- 2 exons across 41.4 kb
- Protein
- 287 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000367568.5NM_003764.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Familial Hemophagocytic Lymphohistiocytosis
- Familial hemophagocytic lymphohistiocytosis type 4 (STX11)Autosomal recessive
Caused by changes in the STX11 gene, which is involved in the release of killing granules from immune cells.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How STX11 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.5 kb of the gene's 41.4 kb; 864 of those bases code for the protein.
How a genome test reads STX11
25
positions in STX11 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 41.4 kb of STX11, introns included, not only the 5.5 kb of exons.
Genes linked to the same conditions
- ADARadenosine deaminase RNA specificShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AP3B1adaptor related protein complex 3 subunit beta 1Shares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
- BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6Shares 1 condition
- BTKBruton tyrosine kinaseShares 1 condition
- C1QAcomplement C1q A chainShares 1 condition
- C1QBcomplement C1q B chainShares 1 condition
- C1QCcomplement C1q C chainShares 1 condition
Traits linked to STX11
The Human Phenotype Ontology lists these as features of the rare conditions STX11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Low number of red blood cells or hemoglobin
- Abnormality of multiple cell lineages in the bone marrow
- Hemophagocytosis
- Hypofibrinogenemia
- Low platelet count
- Abnormality of the coagulation cascade
- Blood spots
- Ecchymosis
Show 3 more traits
Abnormality of the immune system
- Abnormal circulating cytokine concentration
- Abnormality of tumor necrosis factor secretion
- Immune dysregulation
- Increased circulating interferon-gamma concentration
- Increased circulating interleukin 6 concentration
- Red scaly skin caused by inflammatory skin disease
- Skin rash
- Brain inflammation
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). STX11 gene: syntaxin 11. Retrieved 16 October 2026, from https://dantelabs.com/genes/stx11
Dante Labs. STX11 gene: syntaxin 11 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stx11
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