EXOC3L2 Gene - Exocyst Complex Component 3 Like 2
Comprehensive genomic and functional analysis of EXOC3L2, a component of the exocyst complex involved in vesicle trafficking and cellular secretion.
Gene Information Card
| Symbol | EXOC3L2 |
|---|---|
| Full Name | Exocyst complex component 3 like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 55132 ncbi.nlm.nih.gov/gene/55132 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q86Y82 |
| OMIM ID | 615829 |
| HGNC ID | 26213 |
| Aliases | FLJ10980, SEC5L2, EXOC3L |
Description
EXOC3L2 (exocyst complex component 3 like 2) is a protein-coding gene located on chromosome 19q13.2. It encodes a subunit of the exocyst complex, an octameric protein complex essential for targeting and tethering secretory vesicles to the plasma membrane prior to fusion. EXOC3L2 is a paralog of EXOC3 and is involved in vesicle-mediated transport, cell polarity, and exocytosis. The gene is expressed in multiple tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No direct evidence from OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 5.2 | Low |
| Kidney | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Moderate expression |
| HeLa | 6.4 | Moderate expression |
| K562 | 3.1 | Low expression |
| HepG2 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Val34Ile) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.455C>T (p.Pro152Leu) | missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • exocyst (GO:0000145) | • exocytosis (GO:0006887) |
| • protein transport (GO:0015031) | • perinuclear region of cytoplasm (GO:0048471) |
| • retrograde vesicle-mediated transport (GO:0006890) |
Pathways
• Exocyst pathway
• Vesicle-mediated transport
• Membrane trafficking
Protein Summary
EXOC3L2 encodes a 745-amino acid protein (UniProt Q86Y82) that is a component of the exocyst complex. The exocyst complex is involved in the tethering of secretory vesicles to specific sites on the plasma membrane, a critical step for polarized exocytosis. EXOC3L2 interacts with other exocyst subunits and may play a role in neuronal and testicular function. The protein contains a Sec5-like domain and is localized to the perinuclear region and plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC3L2 Knockout HEK293 Cell Line | EDJ-KQ9881 | Human | 90332 | Details Get a Quote |
| EXOC3L2 Knockout A-549 Cell Line | EDJ-KQ38060 | Human | 90332 | Details Get a Quote |
| EXOC3L2 Knockout HCT 116 Cell Line | EDJ-KQ38061 | Human | 90332 | Details Get a Quote |
| EXOC3L2 Knockout HeLa Cell Line | EDJ-KQ38062 | Human | 90332 | Details Get a Quote |
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