HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
2 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.
EXOC1L
exocyst complex component 1 like
Chromosome 4 Β· 4q12
NCBI Gene: 644145Ensembl: ENSG00000250821.3HGNC: HGNC:53433UniProt: A0A1B0GW35
3PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
polycythemiacoronary artery diseasemyocardial infarctionhyperaldosteronism
✦AI Summary

Based on limited published evidence, EXOC1L (exocyst complex component 1 like) is a putative component of the exocyst complex. A genome-wide association study identified EXOC1L variants associated with blood glucose levels in East Asian populations 1. Additionally, EXOC1L variants were identified as potential genetic modifiers of age of onset in fatal familial insomnia patients, with variants absent in early-onset cases, suggesting involvement in apoptotic pathways 2. However, specific molecular functions and mechanisms remain largely unexplored.

Sources cited
1
EXOC1L variants associated with blood glucose level in East Asians identified through cross-ancestry genome-wide association analysis
PMID: 40585105
2
EXOC1L variants identified as potential disease modulatory risk loci influencing age of onset in fatal familial insomnia, associated with apoptotic pathways
PMID: 37626863
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜11
polycythemiaOpen Targets
0.23Weak
coronary artery diseaseOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.09Suggestive
hyperaldosteronismOpen Targets
0.07Suggestive
adrenal gland hyperfunctionOpen Targets
0.07Suggestive
albuminuriaOpen Targets
0.07Suggestive
sialolithiasisOpen Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.03Suggestive
contractureOpen Targets
0.03Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TNFAIP2Protein interaction95%EXOC5Protein interaction95%EXOC3Protein interaction95%EXOC6BProtein interaction95%EXOC7Protein interaction95%EXOC6Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
0%
Brain
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
EXOC1LTNFAIP2EXOC5EXOC3EXOC6BEXOC7EXOC6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A0A1B0GW35
View on AlphaFold β†—
RankingsWhere EXOC1L stands among ~20K protein-coding genes
  • #18,842of 20,598
    Most Researched3
Genes detectedEXOC1L
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Diverse Genomes, Shared Health: Insights from a Health System Biobank.
PMID: 40585105
medRxiv Β· 2025
1.00
2
Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia.
PMID: 37626863
Cells Β· 2023
0.50