EXOC6
Exocyst Complex Component 6
Gene Information Card
| Symbol | EXOC6 |
|---|---|
| Full Name | Exocyst Complex Component 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 54536 ncbi.nlm.nih.gov/gene/54536 |
| Ensembl ID | ENSG00000138160 |
| UniProt ID | Q8TAG9 |
| OMIM ID | 612862 |
| HGNC ID | 17085 |
| Aliases | SEC15, SEC15L1, SEC15L |
Description
EXOC6 encodes a component of the exocyst complex, a multi-protein complex essential for targeting and tethering secretory vesicles to specific sites on the plasma membrane. The exocyst complex is involved in exocytosis, cell polarity, and cell migration. EXOC6 is the mammalian ortholog of yeast Sec15 and interacts with other exocyst subunits to facilitate vesicle docking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered exocyst function may affect cell migration and invasion, contributing to metastasis. EXOC6 overexpression or mutation has been reported in some cancers. | COSMIC; literature |
| Neurodevelopmental disorders | Rare variants in EXOC6 have been implicated in intellectual disability and developmental delay, possibly due to disrupted vesicle trafficking in neurons. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK 293 | 9.1 | Embryonic kidney cell line |
| A549 | 7.4 | Lung cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function; associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely disrupting exocyst complex assembly and vesicle trafficking.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in conserved domains may interfere with exocyst complex function in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • exocyst | • vesicle docking |
| • exocytosis | • protein transport |
| • plasma membrane |
Pathways
• Exocyst pathway
• Vesicle-mediated transport
• RalA/B regulation of exocytosis
Protein Summary
EXOC6 is a 75 kDa protein that localizes to the plasma membrane and is a core component of the exocyst complex. It interacts with other exocyst subunits (e.g., EXOC1, EXOC2) and small GTPases such as RalA and RalB to regulate polarized exocytosis. The protein contains a conserved Sec15 domain and is essential for proper cell polarity and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC6B Knockout HEK293 Cell Line | EDJ-KQ7902 | Human | 23233 | Details Get a Quote |
| EXOC6 Knockout HEK293 Cell Line | EDJ-KQ11454 | Human | 54536 | Details Get a Quote |
| EXOC6B Knockout A-549 Cell Line | EDJ-KQ33508 | Human | 23233 | Details Get a Quote |
| EXOC6B Knockout HCT 116 Cell Line | EDJ-KQ33509 | Human | 23233 | Details Get a Quote |
| EXOC6B Knockout HeLa Cell Line | EDJ-KQ33510 | Human | 23233 | Details Get a Quote |
| EXOC6 Knockout A-549 Cell Line | EDJ-KQ39746 | Human | 54536 | Details Get a Quote |
| EXOC6 Knockout HCT 116 Cell Line | EDJ-KQ39747 | Human | 54536 | Details Get a Quote |
| EXOC6 Knockout HeLa Cell Line | EDJ-KQ39748 | Human | 54536 | Details Get a Quote |
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