CPLX2
Complexin 2: A Key Regulator of Neurotransmitter Release
Gene Information Card
| Symbol | CPLX2 |
|---|---|
| Full Name | complexin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 10814 ncbi.nlm.nih.gov/gene/10814 |
| Ensembl ID | ENSG00000145920 |
| UniProt ID | Q6PUV4 |
| OMIM ID | 605032 |
| HGNC ID | 2370 |
| Aliases | CPX2, complexin II, synaphin 2 |
Description
CPLX2 encodes complexin 2, a cytosolic protein that binds to the SNARE complex and regulates synaptic vesicle exocytosis. It is predominantly expressed in the brain and plays a critical role in fast, calcium-triggered neurotransmitter release by stabilizing the SNARE complex and modulating fusion pore dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered CPLX2 expression may disrupt synaptic vesicle release, contributing to synaptic dysfunction in schizophrenia. | Postmortem brain studies show reduced CPLX2 mRNA and protein levels in prefrontal cortex (PMID: 15009635). |
| Bipolar disorder | Dysregulation of complexin 2 expression may impair neurotransmitter release and synaptic plasticity. | Reduced CPLX2 expression observed in hippocampus of bipolar disorder patients (PMID: 20064382). |
| Epilepsy | Altered complexin 2 levels may affect inhibitory/excitatory balance, influencing seizure susceptibility. | Increased CPLX2 expression found in temporal lobe epilepsy tissue (PMID: 17689532). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 33.2 | High |
| Cerebral cortex | 40.1 | High |
| Cerebellum | 28.5 | High |
| Hippocampus | 35.0 | High |
| Testis | 2.1 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal-like cell line; moderate expression |
| U-87 MG | 2.1 | Glioblastoma; low expression |
| HEK 293 | 0.5 | Embryonic kidney; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | May affect SNARE binding; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CPLX2 are rare and predicted to impair synaptic vesicle exocytosis, potentially leading to neurological phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CPLX2.
Dominant Negative (DN)
No dominant-negative mutations have been described for CPLX2.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle exocytosis | • SNARE complex binding |
| • regulation of neurotransmitter secretion | • calcium-dependent exocytosis |
| • positive regulation of exocytosis | • protein binding |
Pathways
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
Complexin 2 is a 134-amino acid protein that binds to the SNARE complex via its central alpha-helix. It acts as a clamp to prevent spontaneous fusion and as an activator to promote synchronous release upon calcium influx. It is highly expressed in brain, particularly in neurons, and is essential for normal synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPLX2 Knockout HEK293 Cell Line | EDJ-KQ7179 | Human | 10814 | Details Get a Quote |
| CPLX2 Knockout A-549 Cell Line | EDJ-KQ30732 | Human | 10814 | Details Get a Quote |
| CPLX2 Knockout HeLa Cell Line | EDJ-KQ55493 | Human | 10814 | Details Get a Quote |
| CPLX2 Knockout HCT 116 Cell Line | EDJ-KQ72434 | Human | 10814 | Details Get a Quote |
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