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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CPLX1
complexin 1
Chromosome 4 Β· 4p16.3
NCBI Gene: 10815Ensembl: ENSG00000168993.16HGNC: HGNC:2309UniProt: O14810
42PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingSNARE complexregulation of synaptic vesicle fusion to presynaptic active zone membraneterminal boutongenetic developmental and epileptic encephalopathyfamilial infantile myoclonic epilepsyvasculitissialolithiasis
✦AI Summary

CPLX1 (complexin 1) is a synaptic protein that regulates a late step in exocytosis by organizing SNAREs into a cross-linked zigzag topology that prevents premature neurotransmitter release until action potentials arrive 1. It is also involved in glucose-induced insulin secretion by pancreatic beta-cells and is essential for motor behavior 1. CPLX1 regulates neurotransmitter release and is implicated in dopaminergic and GABAergic neuron function 2. Pathogenic variants in CPLX1 cause developmental and epileptic encephalopathy 63, characterized by severe infantile myoclonic epilepsy, intellectual disability, and developmental delay 3. Homozygous loss-of-function mutations have been identified in families with neurogenetic disorders including brain malformations 4. A case report documented Dravet syndrome with a homozygous CPLX1 mutation and heterozygous SCN9A mutation 5. Beyond neurological disease, CPLX1 has emerged as a prognostic biomarker in gastrointestinal cancers. Elevated CPLX1 expression promotes proliferation, motility, and invasiveness in gastric cancer while decreasing apoptosis and chemotherapy sensitivity 6. Similarly, high CPLX1 expression in colorectal cancer correlates with poor survival outcomes and associates with immunotherapy resistance and ferroptosis dysregulation 78. Additionally, CPLX1 variants near disease-associated loci contribute to vasculitis susceptibility 9.

Sources cited
1
CPLX1 regulates late-step exocytosis, organizes SNAREs into cross-linked topology to prevent premature neurotransmitter release, and is involved in insulin secretion
PMID: 21785414
2
Homozygous CPLX1 variants cause severe infantile myoclonic epilepsy and intellectual disability with developmental delay
PMID: 28422131
3
Homozygous loss-of-function variants in CPLX1 identified in families with neurogenetic disorders and brain malformations
PMID: 26539891
4
CPLX1 homozygous mutation identified in Dravet syndrome patient alongside SCN9A heterozygous mutation
PMID: 38110787
5
CPLX1 overexpression promotes proliferation, motility, invasiveness in gastric cancer and decreases apoptosis and fluorouracil sensitivity
PMID: 35726075
6
High CPLX1 expression correlates with poor prognosis in colorectal cancer and associates with immunotherapy resistance and ferroptosis dysregulation
PMID: 40703507
7
Elevated CPLX1 expression in colorectal cancer associates with poor overall survival, disease-specific survival, and progression-free interval
PMID: 40651544
8
CPLX1 is a putative causal gene at essential tremor locus; regulates neurotransmitter release with role in dopaminergic and GABAergic neurons
PMID: 38671141
9
CPLX1 variants near novel genetic risk locus shared across systemic vasculitides
PMID: 36797040
Disease Associationsβ“˜21
genetic developmental and epileptic encephalopathyOpen Targets
0.64Moderate
familial infantile myoclonic epilepsyOpen Targets
0.37Weak
vasculitisOpen Targets
0.31Weak
sialolithiasisOpen Targets
0.27Weak
Abnormal brain morphologyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Wolf-Hirschhorn syndromeOpen Targets
0.12Weak
bone fractureOpen Targets
0.09Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
astrocytomaOpen Targets
0.05Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.04Suggestive
essential tremorOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
ependymomaOpen Targets
0.04Suggestive
Developmental and epileptic encephalopathy 63UniProt
Pathogenic Variants3
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)Likely pathogenic
Abnormal brain morphology|Developmental and epileptic encephalopathy, 63
β˜…β˜…β˜†β˜†2018β†’ Residue 108
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)Pathogenic
Developmental and epileptic encephalopathy, 63
β˜…β˜…β˜†β˜†2018β†’ Residue 105
NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)Likely pathogenic
Developmental and epileptic encephalopathy, 63
β˜…β˜†β˜†β˜†2022β†’ Residue 23
View on ClinVar β†—
Related Genes
SYT4Protein interaction100%STX6Protein interaction100%VAMP7Protein interaction100%STX16Protein interaction100%STX1BProtein interaction100%SLC17A7Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
26%
Ovary
21%
Lung
8%
Heart
6%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
CPLX1SYT4STX6VAMP7STX16STX1BSLC17A7
PROTEIN STRUCTURE
Preparing viewer…
PDB3RK3 Β· 3.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.44Tolerant
Observed/Expected LoF0.38 [0.21–0.76]
RankingsWhere CPLX1 stands among ~20K protein-coding genes
  • #9,858of 20,598
    Most Researched42
  • #4,081of 5,498
    Most Pathogenic Variants3
  • #6,028of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedCPLX1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
PMID: 26539891
Neuron Β· 2015
1.00
2
CPLX1 is a novel prognostic biomarker in CRC correlating with immunotherapy resistance and ferroptosis.
PMID: 40703507
Front Immunol Β· 2025
0.90
3
Transcriptomic profiling on localized gastric cancer identified CPLX1 as a gene promoting malignant phenotype of gastric cancer and a predictor of recurrence after surgery and subsequent chemotherapy.
PMID: 35726075
J Gastroenterol Β· 2022
0.80
4
Identification of CPLX1 expression as a potential prognostic marker in colorectal cancer.
PMID: 40651544
Mol Cell Probes Β· 2025
0.70
5
Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.
PMID: 38110787
Hum Cell Β· 2024
0.60