EXOC7: Exocyst Complex Component 7
A key subunit of the exocyst complex involved in vesicle tethering and exocytosis.
Gene Information Card
| Symbol | EXOC7 |
|---|---|
| Full Name | exocyst complex component 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 23265 ncbi.nlm.nih.gov/gene/23265 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | Q9UPT5 |
| OMIM ID | 608163 |
| HGNC ID | 23265 |
| Aliases | EXO70, EXOC7, Exo70p, FLJ46481, KIAA1625 |
Description
EXOC7 encodes exocyst complex component 7 (Exo70), a subunit of the exocyst complex. The exocyst is an octameric protein complex essential for tethering secretory vesicles to the plasma membrane prior to fusion, playing a critical role in exocytosis, cell polarity, and membrane expansion. EXOC7 is involved in neurite outgrowth, ciliogenesis, and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of exocyst-mediated vesicle trafficking may alter cell polarity and promote invasion | COSMIC; literature review |
| Ciliopathies | EXOC7 mutations impair ciliogenesis, leading to defects in primary cilia function | OMIM 608163; PubMed |
| Neurodevelopmental disorders | EXOC7 variants associated with intellectual disability and developmental delay | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.7 | Embryonic kidney cells |
| A549 | 9.5 | Lung carcinoma |
| MCF7 | 8.9 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.1567G>A | Nonsense | 0.01% | p.Trp523*; truncation, likely loss of function |
| c.789_790insA | Frameshift | 0.005% | p.Glu264Argfs*12; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in EXOC7 lead to truncated or absent protein, impairing exocyst complex assembly and vesicle tethering.
Gain of Function (GOF)
No documented gain-of-function mutations for EXOC7.
Dominant Negative (DN)
Missense mutations may produce a defective Exo70 that interferes with exocyst function in a dominant-negative manner, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Exocyst pathway (Reactome: R-HSA-5620912)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
Exocyst complex component 7 (Exo70) is a 70 kDa protein that localizes to the plasma membrane and interacts with other exocyst subunits (SEC3, SEC5, SEC6, SEC8, SEC10, SEC15, EXO84). It mediates tethering of post-Golgi vesicles to specific docking sites, facilitating SNARE-mediated fusion. Exo70 also regulates actin cytoskeleton dynamics and cell migration through interaction with the Arp2/3 complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC7 Knockout HEK293 Cell Line | EDJ-KQ7929 | Human | 23265 | Details Get a Quote |
| EXOC7 Knockout A-549 Cell Line | EDJ-KQ33574 | Human | 23265 | Details Get a Quote |
| EXOC7 Knockout HCT 116 Cell Line | EDJ-KQ33575 | Human | 23265 | Details Get a Quote |
| EXOC7 Knockout HeLa Cell Line | EDJ-KQ33576 | Human | 23265 | Details Get a Quote |
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