CPLX3
Complexin 3
Gene Information Card
| Symbol | CPLX3 |
|---|---|
| Full Name | Complexin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 594855 ncbi.nlm.nih.gov/gene/594855 |
| Ensembl ID | ENSG00000188783 |
| UniProt ID | Q8IV37 |
| OMIM ID | 609398 |
| HGNC ID | 20310 |
| Aliases | CPX III, complexin III |
Description
CPLX3 encodes complexin 3, a member of the complexin family that regulates SNARE complex assembly and disassembly during synaptic vesicle exocytosis. Complexin 3 is predominantly expressed in the brain and plays a role in calcium-triggered neurotransmitter release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered CPLX3 expression may disrupt synaptic vesicle release, contributing to synaptic dysfunction in schizophrenia. | PMID: 21743477 |
| Bipolar disorder | Differential expression of CPLX3 in postmortem brain tissue suggests involvement in mood disorder pathophysiology. | PMID: 21743477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 10.8 | Medium |
| Hippocampus | 9.2 | Medium |
| Testis | 1.3 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuroblastoma cell line |
| U-87 MG | 6.4 | Glioblastoma cell line |
| HEK 293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.389A>G (p.Asn130Ser) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CPLX3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CPLX3.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in CPLX3.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • synaptic vesicle exocytosis |
| • regulation of neurotransmitter secretion | • calcium-dependent exocytosis |
| • cytoplasm | • synapse |
Pathways
• Neurotransmitter release cycle
• Synaptic vesicle cycle
Protein Summary
Complexin 3 is a 158-amino acid protein that binds to the SNARE complex and modulates synaptic vesicle fusion. It contains a central alpha-helical domain that interacts with the SNARE bundle, facilitating rapid calcium-triggered exocytosis. Expression is enriched in the brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPLX3 Knockout HEK293 Cell Line | EDJ-KQ12994 | Human | 594855 | Details Get a Quote |
| CPLX3 Knockout HeLa Cell Line | EDJ-KQ60512 | Human | 594855 | Details Get a Quote |
| CPLX3 Knockout A-549 Cell Line | EDJ-KQ68981 | Human | 594855 | Details Get a Quote |
| CPLX3 Knockout HCT 116 Cell Line | EDJ-KQ77339 | Human | 594855 | Details Get a Quote |
