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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOC2
exocyst complex component 2
Chromosome 6 · 6p25.3
NCBI Gene: 55770Ensembl: ENSG00000112685.15HGNC: HGNC:24968UniProt: Q96KP1
107PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exocystregulation of entry of bacterium into host cellsmall GTPase bindingprotein kinase bindingskin cancerneurodegenerative diseasenail anomalypsoriasis
✦AI Summary

EXOC2 (exocyst complex component 2) is a critical subunit of the octameric exocyst complex that mediates tethering and fusion of exocytic vesicles at the plasma membrane 1. The protein functions in membrane transport machinery essential for vesicle docking and exocytosis, and participates in Golgi-to-plasma membrane transport and cytokinesis 1. EXOC2 localizes to membrane reservoirs preloaded with RAB10-dependent tubular compartments and is recruited during pathogenic invasion to facilitate membrane mobilization 2. Additionally, EXOC2 functions downstream of STING in intracellular DNA-mediated innate immune responses, relocalizing to perinuclear vesicles containing exocyst components during pathogen defense 3. Clinically, pathogenic EXOC2 variants cause severe neurodevelopmental disorders characterized by developmental delay, dysmorphism, cerebellar hypoplasia, brain abnormalities, and epilepsy 1. The disease phenotype correlates with reduced exocytosis and defective primary cilium localization of Arl13b 1. EXOC2 genetic variants are also associated with primary open-angle glaucoma risk in multiple populations, with specific haplotypes correlating with intraocular pressure regulation 45. Furthermore, EXOC2 regulates toxicity of C9ORF72 expanded repeats in ALS/FTD, representing a potential therapeutic target 6.

Sources cited
1
EXOC2 mutations cause severe developmental delay, dysmorphism, brain abnormalities, and defective exocytosis and vesicle fusion in neural development
PMID: 32639540
2
EXOC2 is preloaded in RAB10-dependent membrane reservoirs and recruited during Salmonella invasion for exocyst assembly and membrane delivery
PMID: 38600106
3
EXOC2 (Sec5) is a component of exocyst complexes involved in STING-mediated intracellular DNA innate immune responses
PMID: 19776740
4
EXOC2 regulates G4C2 repeat-containing RNA levels and dipeptide repeat protein production in C9ORF72-ALS/FTD, making it a therapeutic target
PMID: 38935506
5
EXOC2 locus identified in multiethnic GWAS as novel risk loci for primary open-angle glaucoma with replication across populations
PMID: 29891935
6
EXOC2 SNPs and haplotypes show association with primary open-angle glaucoma and intraocular pressure in Han Chinese population
PMID: 39776193
Disease Associationsⓘ21
skin cancerOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
nail anomalyOpen Targets
0.41Moderate
psoriasisOpen Targets
0.41Moderate
glaucomaOpen Targets
0.41Moderate
skin neoplasmOpen Targets
0.40Moderate
open-angle glaucomaOpen Targets
0.40Weak
neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaOpen Targets
0.39Weak
basal cell carcinomaOpen Targets
0.38Weak
skin diseaseOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.35Weak
lysosomal storage diseaseOpen Targets
0.34Weak
multiple sclerosisOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.34Weak
actinic keratosisOpen Targets
0.34Weak
Nasal Cavity PolypOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
secondary malignant neoplasmOpen Targets
0.31Weak
seborrheic keratosisOpen Targets
0.31Weak
lymphoid neoplasmOpen Targets
0.31Weak
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaUniProt
Pathogenic Variants1
NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
☆☆☆☆2021→ Residue 580
View on ClinVar ↗
Related Genes
RALAProtein interaction100%RALBProtein interaction100%RALGDSProtein interaction100%TBK1Protein interaction100%EXOC3L1Protein interaction98%EXOC1LProtein interaction95%
Tissue Expression6 tissues
Brain
100%
Heart
91%
Lung
65%
Liver
56%
Bone Marrow
53%
Ovary
46%
Gene Interaction Network
Click a node to explore
EXOC2RALARALBRALGDSTBK1EXOC3L1EXOC1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96KP1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.41–0.63]
RankingsWhere EXOC2 stands among ~20K protein-coding genes
  • #4,434of 20,598
    Most Researched107 · top quartile
  • #4,863of 5,498
    Most Pathogenic Variants1
  • #4,406of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedEXOC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity.
PMID: 19776740
Nature · 2009
1.00
2
The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD.
PMID: 38935506
Cell Rep · 2024
0.90
3
Salmonella exploits membrane reservoirs for invasion of host cells.
PMID: 38600106
Nat Commun · 2024
0.80
4
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
PMID: 32639540
J Exp Med · 2020
0.70
5
The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.
PMID: 39776193
Hum Mol Genet · 2025
0.60