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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXOC6
exocyst complex component 6
Chromosome 10 · 10q23.33
NCBI Gene: 54536Ensembl: ENSG00000138190.17HGNC: HGNC:23196UniProt: A5YP36
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGolgi to plasma membrane transportexocystexocytosistype 2 diabetes mellitusAbnormality of the skeletal systemglaucomapituitary gland disease
✦AI Summary

EXOC6 encodes a critical component of the exocyst complex that functions in vesicle docking and exocytosis at the plasma membrane 1. The protein plays essential roles in insulin-stimulated glucose transport by facilitating GLUT4 translocation through its interaction with Rab10-GTP, where knockdown of EXOC6 inhibits GLUT4 translocation in adipocytes 1. In pancreatic β-cells, EXOC6 is crucial for insulin secretion and exocytosis machinery, with silencing leading to impaired insulin secretion, reduced insulin content, and decreased expression of key genes including Ins1, Ins2, Pdx1, Glut2, and Vamp2 2. Disease relevance includes strong associations with type 2 diabetes risk, where genetic variants in EXOC6 (rs947591, rs2488071, rs2488073) show genome-wide significant associations with T2D susceptibility 2. Additional disease associations include gestational diabetes mellitus in Chinese populations 3 and breast cancer risk prediction, where EXOC6 expression serves as a biomarker for cancer development in women with sclerosing adenosis 4. The gene has also been implicated in Alzheimer's disease pathogenesis in APOE4 non-carriers 5 and potentially in optic nerve aplasia through chr10 microdeletions 6.

Sources cited
1
EXOC6 binds Rab10-GTP and is required for GLUT4 translocation in insulin signaling
PMID: 26299925
2
EXOC6 is essential for insulin secretion in pancreatic β-cells and genetic variants are associated with type 2 diabetes risk
PMID: 35336762
3
EXOC6 variants are associated with gestational diabetes mellitus susceptibility
PMID: 38087213
4
EXOC6 expression serves as a biomarker for breast cancer risk prediction in women with sclerosing adenosis
PMID: 28798985
5
EXOC6 is identified as a hub gene associated with Alzheimer's disease in APOE4 non-carriers
PMID: 31441725
6
EXOC6 is located in a chromosomal region associated with optic nerve aplasia
PMID: 21850183
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
glaucomaOpen Targets
0.36Weak
pituitary gland diseaseOpen Targets
0.35Weak
metabolic syndromeOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.30Weak
open-angle glaucomaOpen Targets
0.28Weak
asthmaOpen Targets
0.26Weak
bipolar disorderOpen Targets
0.25Weak
liver diseaseOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.24Weak
BlindnessOpen Targets
0.23Weak
head injuryOpen Targets
0.22Weak
chronic rhinosinusitisOpen Targets
0.21Weak
thyroiditisOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.17Weak
brain cancerOpen Targets
0.16Weak
nervous system cancerOpen Targets
0.16Weak
Chronic Obstructive AsthmaOpen Targets
0.11Weak
disorder of earOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB8AProtein interaction100%MYO5AProtein interaction100%RAB13Protein interaction100%STXBP3Protein interaction100%TNFAIP2Protein interaction100%RAB11AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
85%
Lung
77%
Liver
59%
Heart
55%
Ovary
25%
Gene Interaction Network
Click a node to explore
EXOC6RAB8AMYO5ARAB13STXBP3TNFAIP2RAB11A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TAG9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.40–0.79]
RankingsWhere EXOC6 stands among ~20K protein-coding genes
  • #7,061of 20,598
    Most Researched66
  • #6,501of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedEXOC6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
EXOC6 (Exocyst Complex Component 6) Is Associated with the Risk of Type 2 Diabetes and Pancreatic β-Cell Dysfunction.
PMID: 35336762
Biology (Basel) · 2022
1.00
2
NanoString-based breast cancer risk prediction for women with sclerosing adenosis.
PMID: 28798985
Breast Cancer Res Treat · 2017
0.90
3
A potential link between insulin signaling and GLUT4 translocation: Association of Rab10-GTP with the exocyst subunit Exoc6/6b.
PMID: 26299925
Biochem Biophys Res Commun · 2015
0.80
4
Sec8 modulates TGF-β induced EMT by controlling N-cadherin via regulation of Smad3/4.
PMID: 27769780
Cell Signal · 2017
0.70
5
Genome-wide analysis study of gestational diabetes mellitus and related pathogenic factors in a Chinese Han population.
PMID: 38087213
BMC Pregnancy Childbirth · 2023
0.60