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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EXOC5
exocyst complex component 5
Chromosome 14 · 14q22.3
NCBI Gene: 10640Ensembl: ENSG00000070367.18HGNC: HGNC:10696UniProt: O00471
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
small GTPase bindingprotein bindingexocytosisexocystneurodegenerative diseaseAbruptio Placentaethyroid cancerinjury
✦AI Summary

EXOC5 (exocyst complex component 5) is a central component of the highly conserved eight-protein exocyst complex that mediates vesicle tethering and docking at the plasma membrane 1. Beyond canonical exocytosis, EXOC5 plays critical roles in primary ciliogenesis across multiple tissues. In the kidney, EXOC5 is essential for renal ciliogenesis, cystogenesis, and tubulogenesis, with its ciliary targeting motif being functionally critical 2. Similarly, EXOC5 is required for photoreceptor ciliogenesis and retinal development; photoreceptor-specific knockout causes outer segment structural impairment and loss of visual responses 1. EXOC5 regulates extracellular vesicle (EV) production and protein content in a cilia-dependent manner, affecting EV cargo composition including ARF6 and EPS8L2 levels 3. In podocytes, EXOC5 is necessary for proper trafficking of slit diaphragm proteins (Neph1 and Nephrin); podocyte-specific knockout causes severe glomerular defects and proteinuria 4. EXOC5 expression is higher in floor plate progenitors than neural stem cells, consistent with its role in primary cilia signaling 5. During kidney fibrosis, EXOC5 plays a protective role by suppressing YAP activation; loss of EXOC5 exacerbates fibrosis progression 6. Additionally, rare variants in EXOC5 show suggestive association with late-onset Alzheimer's disease risk 7.

Sources cited
1
EXOC5 is required for photoreceptor ciliogenesis and retinal development; Exoc5 knockout leads to photoreceptor loss and abnormal retinal development
PMID: 28729419
2
EXOC5 ciliary targeting sequence is functionally critical for primary ciliogenesis, cystogenesis, and tubulogenesis in kidney cells
PMID: 30824539
3
EXOC5 regulates primary cilia formation and controls extracellular vesicle number and protein composition including ARF6 and EPS8L2
PMID: 31694916
4
Podocyte-specific Exoc5 knockout causes podocyte loss, proteinuria, glomerular defects, and mislocalization of slit diaphragm proteins Neph1 and Nephrin
PMID: 31073028
5
EXOC5 mRNA is more highly expressed in floor plate progenitors than neural stem cells and is implicated in primary cilia function
PMID: 40873389
6
Exoc5 plays a protective role in kidney fibrosis by suppressing YAP pathway activation; Exoc5 knockout exacerbates kidney fibrosis progression
PMID: 41781492
7
Rare functional variants in EXOC5 show suggestive evidence of increasing risk for late-onset Alzheimer's disease
PMID: 32020597
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
Abruptio PlacentaeOpen Targets
0.27Weak
thyroid cancerOpen Targets
0.14Weak
injuryOpen Targets
0.12Weak
placenta praeviaOpen Targets
0.12Weak
astrocytomaOpen Targets
0.04Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
cystOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
poisoningOpen Targets
0.02Suggestive
Autosomal dominant polycystic kidney diseaseOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
renal fibrosisOpen Targets
0.01Suggestive
hydronephrosisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYO5AProtein interaction100%STXBP3Protein interaction100%TNFAIP2Protein interaction100%RAB11AProtein interaction100%CTNNB1Protein interaction100%EXOC3L1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Bone Marrow
57%
Lung
45%
Liver
40%
Ovary
39%
Gene Interaction Network
Click a node to explore
EXOC5MYO5ASTXBP3TNFAIP2RAB11ACTNNB1EXOC3L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O00471
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.19 [0.08–0.48]
RankingsWhere EXOC5 stands among ~20K protein-coding genes
  • #6,067of 20,598
    Most Researched78
  • #2,803of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedEXOC5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The exocyst is required for photoreceptor ciliogenesis and retinal development.
PMID: 28729419
J Biol Chem · 2017
1.00
2
Intracellular and Extracellular Vesicle miRNA Signatures in Human iPSC-Derived Neural Stem Cells and Floor Plate Progenitors.
PMID: 40873389
FASEB J · 2025
0.90
3
Primary cilia and the exocyst are linked to urinary extracellular vesicle production and content.
PMID: 31694916
J Biol Chem · 2019
0.80
4
Disruption of the exocyst induces podocyte loss and dysfunction.
PMID: 31073028
J Biol Chem · 2019
0.70
5
The exocyst acting through the primary cilium is necessary for renal ciliogenesis, cystogenesis, and tubulogenesis.
PMID: 30824539
J Biol Chem · 2019
0.60