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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CPLX3
complexin 3
Chromosome 15 · 15q24.1
NCBI Gene: 594855Ensembl: ENSG00000213578.6HGNC: HGNC:27652UniProt: A0A384N6F4
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SNARE bindingsynaptic vesicle exocytosisregulation of synaptic vesicle fusion to presynaptic active zone membranemodulation of chemical synaptic transmissionalcohol drinkingosteoarthritissquamous cell lung carcinomahypertension
✦AI Summary

CPLX3 (complexin 3) is a synaptic protein located on chromosome 15 that regulates SNARE-mediated synaptic vesicle fusion and neurotransmitter release. In the retina, CPLX3 maintains synaptic ultrastructure and positively regulates synaptic transmission at photoreceptor ribbon synapses by modulating synaptic vesicle availability and exocytosis 1. CPLX3 functions to suppress tonic photoreceptor activity and baseline noise through suppression of spontaneous Ca2+ vesicle release while facilitating evoked synchronous and asynchronous release. During cortical development, CPLX3 is expressed as a layer 6b-specific gene whose expression is regulated by transcription factors Satb2 and Nr4a2, marking mature subplate neurons that regulate cortical development and plasticity 23. CPLX3 is clinically relevant in 15q24 microdeletion syndrome, where its deletion along with SEMA7A and SIN3A contributes to developmental delay and intellectual disability 45. Additionally, CPLX3 downregulation correlates with poor overall survival in glioblastoma 6, and its methylation status shows ancestry-specific associations with daytime sleepiness in African-Americans 7. CPLX3 has also been identified as a hub gene in atrial fibrillation associated with primary mitral regurgitation 8.

Sources cited
1
CPLX3 expression emerges postnatally, delineating mature subplate neurons with regionally patterned maturation
PMID: 40730133
2
CPLX3 is a layer 6b-specific gene whose expression is regulated by Satb2 and Nr4a2 transcription factors
PMID: 40164579
3
CPLX3 is a dedicated marker of subplate neurons that regulate cortical development and plasticity
PMID: 35136970
4
CPLX3 is a candidate gene within the smallest region of overlap in 15q24 microdeletion syndrome that may predispose to clinical features
PMID: 22216833
5
CPLX3 deletion along with SEMA7A and SIN3A are key genes responsible for 15q24 microdeletion syndrome
PMID: 31302908
6
CPLX3 is among downregulated genes whose decreased expression is associated with poor overall survival in glioblastoma
PMID: 39733410
7
CPLX3 methylation shows ancestry-specific associations with daytime sleepiness in African-Americans
PMID: 31139831
8
CPLX3 is identified as a hub gene in atrial fibrillation associated with primary mitral regurgitation
PMID: 37960721
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.12Weak
osteoarthritisOpen Targets
0.05Suggestive
squamous cell lung carcinomaOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.04Suggestive
hypertension, pregnancy-inducedOpen Targets
0.03Suggestive
celiac diseaseOpen Targets
0.02Suggestive
systemic sclerodermaOpen Targets
0.02Suggestive
late-onset Alzheimers diseaseOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
Lewy body dementiaOpen Targets
0.00Suggestive
Rhabdoviridae infectious diseaseOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
attention deficit hyperactivity disorderOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Nijmegen breakage syndromeOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAMP2Protein interaction100%STX3Protein interaction93%SNAP25Protein interaction92%STX1AProtein interaction92%VAMP1Protein interaction92%CPLX4Protein interaction87%
Tissue Expression6 tissues
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CPLX3VAMP2STX3SNAP25STX1AVAMP1CPLX4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WVH0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.47–1.19]
RankingsWhere CPLX3 stands among ~20K protein-coding genes
  • #16,141of 20,598
    Most Researched13
  • #12,514of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedCPLX3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Satb2 and Nr4a2 are required for the differentiation of cortical layer 6b.
PMID: 40164579
Cell Death Discov · 2025
1.00
2
Spatiotemporal Characterisation of Key Cortical Developmental Markers in the Developing Ferret Brain.
PMID: 40730133
Dev Neurosci · 2025
0.90
3
Chromosome 15q24 microdeletion syndrome.
PMID: 22216833
Orphanet J Rare Dis · 2012
0.80
4
The G Protein-Coupled Receptor-Related Gene Signatures for Diagnosis and Prognosis in Glioblastoma: A Deep Learning Model Using RNA-Seq Data.
PMID: 39733410
Asian Pac J Cancer Prev · 2024
0.70
5
[Clinical and genetic analysis of three pediatric patients with 15q24 microdeletion syndrome].
PMID: 31302908
Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2019
0.60