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EXOC3L4 (Exocyst Complex Component 3 Like 4) is a Protein Coding gene. Diseases associated with EXOC3L4 include Seckel Syndrome 1 and Fanconi Anemia, Complementation Group E. Gene Ontology (GO) annotations related to this gene include SNARE binding. An important paralog of this gene is EXOC3L2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000145 | exocyst | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006887 | exocytosis | IEA,IBA | 21873635 |
GO:0051601 | exocyst localization | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EXOC3L4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EXOC3L4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EXOC3L4 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Exoc3l4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Exoc3l4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EXOC3L4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EXOC3L4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EXOC3L4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | exoc3l4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | exoc3l4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | sec6 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sec-6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10131298 | - | p.Leu185His | |||
rs2297066 | - | p.Asp93Glu | |||
rs2297067 | - | p.Arg77Trp | |||
rs729184 | - | p.Gln675Arg | |||
rs744153 | - | p.Gln685Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2116804 | CNV | deletion | 18987734 |
esv2450303 | CNV | deletion | 19546169 |
esv2749161 | CNV | deletion | 23290073 |
esv3635574 | CNV | gain | 21293372 |
nsv1071174 | CNV | deletion | 25765185 |
nsv1136187 | CNV | deletion | 24896259 |
nsv512378 | CNV | loss | 21212237 |
nsv565970 | CNV | loss | 21841781 |
nsv565971 | CNV | loss | 21841781 |
nsv832882 | CNV | loss | 17160897 |
nsv9168 | CNV | loss | 18304495 |
nsv952257 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
seckel syndrome 1 |
|
|
fanconi anemia, complementation group e |
|
|
inflammatory bowel disease 26 |
|
|