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The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
STX3 (Syntaxin 3) is a Protein Coding gene. Diseases associated with STX3 include Diarrhea 2, With Microvillus Atrophy and Hemophagocytic Lymphohistiocytosis, Familial, 5. Among its related pathways are Cytokine Signaling in Immune system and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include SNARE binding and arachidonic acid binding. An important paralog of this gene is STX1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0005484 | SNAP receptor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 17693260 |
GO:0050544 | arachidonic acid binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005773 | vacuole | TAS | 16339081 |
GO:0005886 | plasma membrane | TAS,IBA | -- |
GO:0005911 | cell-cell junction | IDA | 15576373 |
GO:0008021 | synaptic vesicle | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
2 | Synaptic vesicle cycle | ||
3 | Cytokine Signaling in Immune system | ||
4 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
|
5 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006887 | exocytosis | IBA,IEA | 21873635 |
GO:0006906 | vesicle fusion | IBA | 21873635 |
GO:0008284 | positive regulation of cell proliferation | IMP | 21720706 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | STX3 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | STX3 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Stx3 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Stx3 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | STX3 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | STX3 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | STX3 33 32 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | STX3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | STX3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | stx3 32 |
|
||
Str.14996 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | stx3a 33 32 |
|
OneToMany | |
STX3 (2 of 2) 33 |
|
OneToMany | |||
zgc65954 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Syx1A 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | unc-64 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs797045154 | uncertain-significance, not provided | 59,787,044(+) | A/G | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs1000052273 | -- | 59,774,237(+) | A/T | intron_variant | |
rs1000128950 | -- | 59,764,391(+) | G/C | genic_upstream_transcript_variant, intron_variant | |
rs1000162081 | -- | 59,791,460(+) | C/A/G | intron_variant | |
rs1000207020 | -- | 59,805,730(+) | C/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3626541 | CNV | loss | 21293372 |
nsv1046086 | CNV | gain | 25217958 |
nsv1144571 | CNV | deletion | 24896259 |
nsv473543 | CNV | novel sequence insertion | 20440878 |
nsv477412 | CNV | novel sequence insertion | 20440878 |
nsv972034 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diarrhea 2, with microvillus atrophy |
|
|
hemophagocytic lymphohistiocytosis, familial, 5 |
|
|
congenital diarrhea |
|
|
bardet-biedl syndrome 17 |
|
|
tetanus |
|