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GeneE
10 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.
EXOC8
exocyst complex component 8
Chromosome 1 Β· 1q42.2
NCBI Gene: 149371Ensembl: ENSG00000116903.7HGNC: HGNC:24659UniProt: Q8IYI6
63PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrix disassemblyprotein bindingexocystlate endosomeneurodegenerative diseaseneurodevelopmental disorder with microcephaly, seizures, and brain atrophysign or symptomJoubert syndrome
✦AI Summary

EXOC8 encodes a component of the exocyst complex, an evolutionarily conserved eight-protein complex essential for vesicle trafficking and membrane fusion 1. The primary function involves mediating fusion of intracellular vesicles to the plasma membrane, participating in processes including ciliogenesis, cytokinesis, cell migration, and autophagy 1. EXOC8 regulates cortical development through control of neural progenitor cell proliferation and survival 1. Loss-of-function variants in EXOC8 cause a neurodevelopmental disorder characterized by brain atrophy, seizures, developmental delay, and in severe cases, microcephaly and infantile death 12. The protein functions through vesicle docking and tethering mechanisms essential for proper exocytosis and membrane trafficking. Disease-causing variants include both splice variants and nonsense mutations that result in protein truncation 12. Clinical significance includes its role as a diagnostic target for neurodevelopmental disorders, with whole-exome sequencing identifying pathogenic variants in consanguineous families 32. Additionally, EXOC8 shows altered expression in various pathological conditions including hepatocellular carcinoma and parathyroid hyperplasia, suggesting broader cellular regulatory functions 45.

Sources cited
1
EXOC8 is a component of the exocyst complex involved in vesicle trafficking, cortical development, and causes neurodevelopmental disorder when mutated
PMID: 32103185
2
Nonsense variants in EXOC8 cause neurodevelopmental disorder with brain atrophy and intellectual impairment
PMID: 35460391
3
EXOC8 variants identified in Middle Eastern families with intellectual disability through whole-exome sequencing
PMID: 36344539
4
EXOC8 shows differential expression in hepatocellular carcinoma cell exosomes
PMID: 37685904
5
EXOC8 expression differs between nodular and diffuse parathyroid hyperplasia
PMID: 27600827
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.50Moderate
neurodevelopmental disorder with microcephaly, seizures, and brain atrophyOpen Targets
0.47Moderate
sign or symptomOpen Targets
0.28Weak
Joubert syndromeOpen Targets
0.11Weak
hypotensionOpen Targets
0.06Suggestive
high altitude adaptationOpen Targets
0.04Suggestive
frozen shoulderOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.01Suggestive
Brain atrophyOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophyUniProt
Pathogenic Variants2
NM_175876.5(EXOC8):c.1815_1816del (p.Gly606_Asp607insTer)Pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 606
NM_175876.5(EXOC8):c.473dup (p.Gln159fs)Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
β˜…β˜†β˜†β˜†2025β†’ Residue 159
View on ClinVar β†—
Related Genes
RALAProtein interaction100%RALBProtein interaction100%STXBP3Protein interaction100%TNFAIP2Protein interaction100%RAB11AProtein interaction100%RAB10Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
79%
Heart
54%
Lung
44%
Liver
34%
Ovary
29%
Gene Interaction Network
Click a node to explore
EXOC8RALARALBSTXBP3TNFAIP2RAB11ARAB10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IYI6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.93Intolerant
Observed/Expected LoF0.36 [0.25–0.52]
RankingsWhere EXOC8 stands among ~20K protein-coding genes
  • #7,359of 20,598
    Most Researched63
  • #4,398of 5,498
    Most Pathogenic Variants2
  • #3,245of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedEXOC8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep Β· 2022
1.00
2
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
PMID: 32103185
Genet Med Β· 2020
0.90
3
Exosomal MicroRNA and Protein Profiles of Hepatitis B Virus-Related Hepatocellular Carcinoma Cells.
PMID: 37685904
Int J Mol Sci Β· 2023
0.80
4
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
PMID: 35460391
Neurogenetics Β· 2022
0.70
5
Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis.
PMID: 27600827
Am J Physiol Endocrinol Metab Β· 2016
0.60