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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EXOC3L4
exocyst complex component 3 like 4
Chromosome 14 Β· 14q32.32
NCBI Gene: 91828Ensembl: ENSG00000205436.9HGNC: HGNC:20120UniProt: Q17RC7
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SNARE bindingexocytosisexocyst localizationexocystprimary biliary cirrhosisneurodegenerative diseasebiliary liver cirrhosisnon-alcoholic fatty liver disease
✦AI Summary

EXOC3L4 (exocyst complex component 3 like 4) is a component of the exocyst complex involved in vesicle trafficking and exocytosis. Based on sequence homology, EXOC3L4 likely functions as part of the exocyst complex, which mediates SNARE binding and exocyst localization 1. The gene is abundantly expressed in endothelial cells during embryonic development, suggesting roles in cardiovascular function 2. EXOC3L4 has emerged as a novel Alzheimer's disease (AD) risk gene. Rare missense variants cluster spatially around the Sec6 domain and associate with AD phenotypes 3. Specifically, rare variants in splicing regulatory elements of EXOC3L4 are significantly associated with reduced global cortical glucose metabolism in AD patients, as measured by FDG-PET imaging 1. This association suggests that splicing variants affecting EXOC3L4 may impair vesicle transport mechanisms critical for neuronal function. Additionally, cadmium exposure-associated differential methylation at EXOC3L4 loci correlates with increased gene expression in placental tissue, linking environmental toxicant exposure to altered EXOC3L4 regulation during fetal development 4. These findings indicate EXOC3L4 functions in vesicle transport pathways relevant to both neurodegeneration and developmental toxicity.

Sources cited
1
EXOC3L4 is abundantly expressed in endothelial cells during embryonic development and exocyst complex components are important for cardiovascular development
PMID: 36362885
2
EXOC3L4 is a novel AD risk gene with rare missense variants clustered around the Sec6 domain associated with AD phenotypes
PMID: 35210353
3
Rare variants in EXOC3L4 splicing regulatory elements associate with reduced global cortical glucose metabolism in AD, likely through effects on vesicle transport
PMID: 30255815
4
Cadmium-associated differential methylation at EXOC3L4 loci correlates with increased gene expression in placental tissue
PMID: 29373860
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
primary biliary cirrhosisOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
biliary liver cirrhosisOpen Targets
0.33Weak
non-alcoholic fatty liver diseaseOpen Targets
0.29Weak
Barrett's esophagusOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
nervous system cancerOpen Targets
0.03Suggestive
COVID-19Open Targets
0.02Suggestive
brain cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
LeishmaniasisOpen Targets
0.00Suggestive
infectious diseaseOpen Targets
0.00Suggestive
Townes-Brocks syndromeOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
metabolic diseaseOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TNFAIP2Shared pathway100%SYCNShared pathway100%EXOC8Protein interaction100%EXOC3L1Protein interaction99%EXOC1LProtein interaction95%EXOC3L2Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
2%
Bone Marrow
1%
Heart
1%
Ovary
1%
Brain
0%
Gene Interaction Network
Click a node to explore
EXOC3L4TNFAIP2SYCNEXOC8EXOC3L1EXOC1LEXOC3L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q17RC7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.24 [1.01–1.53]
RankingsWhere EXOC3L4 stands among ~20K protein-coding genes
  • #17,048of 20,598
    Most Researched10
  • #15,363of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedEXOC3L4
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Essential Roles of
PMID: 36362885
Life (Basel) Β· 2022
1.00
2
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
PMID: 35210353
Genome Res Β· 2022
0.75
3
Cadmium-Associated Differential Methylation throughout the Placental Genome: Epigenome-Wide Association Study of Two U.S. Birth Cohorts.
PMID: 29373860
Environ Health Perspect Β· 2018
0.50
4
Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease.
PMID: 30255815
BMC Med Genomics Β· 2018
0.25