EXOC6B
Exocyst Complex Component 6B
Gene Information Card
| Symbol | EXOC6B |
|---|---|
| Full Name | Exocyst Complex Component 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 23233 ncbi.nlm.nih.gov/gene/23233 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q8N4I2 |
| OMIM ID | 607880 |
| HGNC ID | 17085 |
| Aliases | SEC15B, SEC15L2, Exo70, EXOC6 |
Description
EXOC6B encodes a component of the exocyst complex, a multi-protein complex essential for targeting and docking of secretory vesicles to the plasma membrane. The exocyst complex is involved in exocytosis, cell polarity, and cell migration. EXOC6B is specifically required for vesicle tethering and fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss-of-function mutations impair exocyst function, disrupting neuronal vesicle trafficking and brain development | ClinVar, OMIM |
| Intellectual disability | Disrupted exocyst complex leads to impaired synaptic vesicle release and neuronal connectivity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 6.5 | Cervical carcinoma cells |
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.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported EXOC6B mutations are loss-of-function, leading to haploinsufficiency or complete loss of exocyst function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • exocytosis | • vesicle docking |
| • vesicle tethering | • cell polarity |
| • cell migration | • protein transport |
Pathways
• Exocyst complex pathway
• Vesicle-mediated transport
• Membrane trafficking
Protein Summary
EXOC6B is a 724-amino acid protein that forms part of the exocyst complex. It interacts with other exocyst subunits (EXOC1-EXOC8) and is involved in tethering secretory vesicles to the plasma membrane. The protein contains a conserved SEC15 domain and is localized to the plasma membrane and vesicle membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOC6B Knockout HEK293 Cell Line | EDJ-KQ7902 | Human | 23233 | 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 |
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