EXOC8: Exocyst Complex Component 8
A key subunit of the exocyst complex involved in vesicle tethering and exocytosis.
Gene Information Card
| Symbol | EXOC8 |
|---|---|
| Full Name | Exocyst complex component 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 149371 ncbi.nlm.nih.gov/gene/149371 |
| Ensembl ID | ENSG00000116918 |
| UniProt ID | Q8IYI6 |
| OMIM ID | 615331 |
| HGNC ID | 24657 |
| Aliases | EXO84, SEC8, SEC8L1 |
Description
EXOC8 encodes a component of the exocyst complex, an octameric protein complex essential for tethering secretory vesicles to the plasma membrane prior to fusion. The exocyst complex is involved in exocytosis, cell polarity, and ciliogenesis. EXOC8 is widely expressed and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Loss-of-function mutations in EXOC8 disrupt exocyst complex assembly, impairing vesicle trafficking and neuronal development. | ClinVar, OMIM |
| Joubert syndrome (related ciliopathy) | EXOC8 mutations may affect ciliary function via disrupted exocyst-mediated vesicle transport to cilia. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| SH-SY5Y | 18.5 | High expression (neuronal) |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248*) | Nonsense | Rare | Premature stop, loss of function |
| c.1135G>A (p.Gly379Arg) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EXOC8 are associated with neurodevelopmental disorders, indicating loss-of-function mechanism.
Gain of Function (GOF)
No evidence for gain-of-function mutations in EXOC8.
Dominant Negative (DN)
Not reported for EXOC8.
View complete mutation data：
Gene Ontology (GO)
| • exocyst (GO:0000145) | • exocytosis (GO:0006887) |
| • vesicle-mediated transport (GO:0016192) | • cytoplasmic vesicle (GO:0031410) |
| • neuron projection (GO:0043005) |
Pathways
• Exocyst complex pathway (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
EXOC8 is a 75 kDa protein that localizes to the plasma membrane and vesicle membranes. It interacts with other exocyst subunits (e.g., EXOC1, EXOC2) and small GTPases such as RAB11 and RAL to regulate vesicle tethering. The protein contains a pleckstrin homology (PH) domain and coiled-coil regions important for complex assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC8 Knockout HEK293 Cell Line | EDJ-KQ52029 | Human | 149371 | Details Get a Quote |
| EXOC8 Knockout HeLa Cell Line | EDJ-KQ58627 | Human | 149371 | Details Get a Quote |
| EXOC8 Knockout A-549 Cell Line | EDJ-KQ67109 | Human | 149371 | Details Get a Quote |
| EXOC8 Knockout HCT 116 Cell Line | EDJ-KQ75517 | Human | 149371 | Details Get a Quote |
