Free for academic non-profit institutions. Other users need a Commercial license
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]
STX11 (Syntaxin 11) is a Protein Coding gene. Diseases associated with STX11 include Hemophagocytic Lymphohistiocytosis, Familial, 4 and Hemophagocytic Lymphohistiocytosis, Familial, 1. Among its related pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include SNARE binding and SNAP receptor activity. An important paralog of this gene is STX19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0005484 | SNAP receptor activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0008021 | synaptic vesicle | IBA | 21873635 |
GO:0012505 | endomembrane system | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006887 | exocytosis | IBA | 21873635 |
GO:0006906 | vesicle fusion | IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0016192 | vesicle-mediated transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
emapalumab | Approved, Investigational | Pharma | 0 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STX11 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stx11 30 |
|
||
Dog (Canis familiaris) |
Mammalia | STX11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STX11 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stx11 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | STX11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | STX11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | STX11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STX11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stx11 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18360 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | stx11a 30 31 |
|
OneToMany | |
stx11b.1 31 |
|
OneToMany | |||
stx11b.2 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Syx4 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | syx-4 31 |
|
ManyToMany | |
syx-2 31 |
|
ManyToMany | |||
syx-3 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SSO2 31 |
|
ManyToMany | |
SSO1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639111 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 4 | 144,187,229(+) | G/T | MISSENSE_VARIANT | |
643041 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 4 | 144,186,653(+) | T/C | MISSENSE_VARIANT | |
644744 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 4 | 144,187,060(+) | G/C | MISSENSE_VARIANT | |
646767 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 4 | 144,186,741(+) | C/A | MISSENSE_VARIANT | |
647365 | Uncertain Significance: Familial hemophagocytic lymphohistiocytosis 4 | 144,187,286(+) | G/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3571438 | CNV | loss | 25503493 |
nsv1024333 | CNV | loss | 25217958 |
nsv507367 | OTHER | sequence alteration | 20534489 |
nsv830831 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hemophagocytic lymphohistiocytosis, familial, 4 |
|
|
hemophagocytic lymphohistiocytosis, familial, 1 |
|
|
hemophagocytic lymphohistiocytosis |
|
|
lymphoproliferative syndrome, x-linked, 2 |
|
|
hemophagocytic lymphohistiocytosis, familial, 5 |
|
|