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The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]
EXOC3L2 (Exocyst Complex Component 3 Like 2) is a Protein Coding gene. Diseases associated with EXOC3L2 include Alzheimer Disease 4 and Alzheimer's Disease 1. Gene Ontology (GO) annotations related to this gene include SNARE binding. An important paralog of this gene is EXOC3L4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000145 | exocyst | IEA,IBA | 21873635 |
GO:0005575 | cellular_component | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006887 | exocytosis | IEA,IBA | 21873635 |
GO:0008150 | biological_process | ND | -- |
GO:0051601 | exocyst localization | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EXOC3L2 30 |
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Dog (Canis familiaris) |
Mammalia | EXOC3L2 30 |
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Cow (Bos Taurus) |
Mammalia | EXOC3L2 30 |
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Rat (Rattus norvegicus) |
Mammalia | Exoc3l2 30 |
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Mouse (Mus musculus) |
Mammalia | Exoc3l2 30 17 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486119 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC565839 30 |
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SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
916243 | Likely Benign: not provided | 45,213,099(-) | C/T | SYNONYMOUS_VARIANT | |
rs886039793 | Likely Pathogenic: Meckel-Gruber syndrome | 45,227,667(-) | T/TG | ||
rs10411314 | - | p.Asn173Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv23015 | CNV | gain | 19812545 |
esv2422482 | CNV | duplication | 17116639 |
esv2678049 | CNV | deletion | 23128226 |
esv3583434 | CNV | loss | 25503493 |
esv3644501 | CNV | loss | 21293372 |
nsv833843 | CNV | loss | 17160897 |
nsv833844 | CNV | loss | 17160897 |
nsv960854 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease 4 |
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alzheimer's disease 1 |
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alzheimer disease |
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