EXOC3L4 Gene
Exocyst Complex Component 3 Like 4
Gene Information Card
| Symbol | EXOC3L4 |
|---|---|
| Full Name | Exocyst Complex Component 3 Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 285203 ncbi.nlm.nih.gov/gene/285203 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q8N8Q1 |
| OMIM ID | 615891 |
| HGNC ID | 26258 |
| Aliases | FLJ22624, SEC6L4 |
Description
EXOC3L4 encodes a protein that is a member of the exocyst complex, which is involved in targeting and docking of exocytic vesicles to the plasma membrane. The exocyst complex is essential for polarized exocytosis and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence from ClinVar, OMIM, or COSMIC as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.3 | Low |
| Liver | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data:
Gene Ontology (GO)
| • exocyst (GO:0000145) | • exocytosis (GO:0006887) |
| • vesicle-mediated transport (GO:0016192) |
Pathways
• Exocyst pathway (Reactome: R-HSA-5620912)
Protein Summary
The EXOC3L4 protein is a component of the exocyst complex, which mediates tethering of secretory vesicles to the plasma membrane prior to fusion. It is involved in polarized exocytosis and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC3L4 Knockout HEK293 Cell Line | EDJ-KQ10795 | Human | 91828 | Details Get a Quote |
| EXOC3L4 Knockout A-549 Cell Line | EDJ-KQ38436 | Human | 91828 | Details Get a Quote |
| EXOC3L4 Knockout HeLa Cell Line | EDJ-KQ38437 | Human | 91828 | Details Get a Quote |
| EXOC3L4 Knockout HCT 116 Cell Line | EDJ-KQ74733 | Human | 91828 | Details Get a Quote |
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