Information on STX11
Basic details
Alt. symbols: FHL4 | HLH4 | HPLH4
Approved name: syntaxin 11
Alt. names: syntaxin11
Location: 6q24.2: 144150487 - 144191939 (+)
Gene type: protein_coding, 4 transcripts.
Scores: LoFtool: 0.438000 | pLI: 0.02002606 | LOEUF: 1.379
Normal function
STX11 encodes syntaxin-11, a SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. SNARE proteins play a role in regulating intracellular protein transport between donor and target membranes. This docking and fusion process involves the interaction of specific vesicle-SNAREs with specific cognate target-SNAREs.
Dysfunction and disease
Biallelic predominantly nonsense and frameshift, but also missense, mutations in STX11 are associated with familial Hemophagocytic lymphohistiocytosis (fHLH) [OMIM:603552]. This is an autosomal recessively inherited susceptibility to the development of a hyperinflammatory disorder due to defective lymphocyte granule-mediated cytotoxicity. This is clinically characterized by features such as fever, splenomegaly, cytopenias, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL-2 receptor levels, often presenting in infancy or early childhood. Zheng et al. (2014) have also posited the potential for digenic inheritance of double heterozygous fHLH variants, reporting 2 patients with heterozygous STX11 variants in combination with either a heterozygous MUNC13-4 or STXBP2 variant. More recently, Ferrari et al. (2018) have reported that heterozygous variants in STX11 and other fHLH genes may be sufficient to cause platelet secretion defects resulting in increased bleeding (PMID: 28399723). [Load More]
[Reviewed by Xiao P. Peng on 2022-07-08 05:43:00]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FHL4 |
Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
603552 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of STX11
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000367568.5 | 1 | CCDS5205 | Select | protein_coding | 2 | Yes | 5504 | NM_003764 |
| 202 | ENST00000698355.1 | protein_coding | No | XM_011536214 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in STX11
| ID | Year | Title | Journal | PMID | Variants |
|---|