EXOC3

Chr 5

exocyst complex component 3

Also known as: SEC6, SEC6L1, Sec6p

NCBI Gene: 11336ENSG00000180104UniProt: O60645

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

0
Active trials
132
Pathogenic / LP
273
ClinVar variants
1
Pubs (1 yr)
2.4
Missense Z
0.35
LOEUF· LoF intolerant
Clinical Summary— EXOC3
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.92). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
132 Pathogenic / Likely Pathogenic· 131 VUS of 273 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.35LOEUF
pLI 0.922
Z-score 4.25
OE 0.17 (0.09–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.43Z-score
OE missense 0.68 (0.62–0.74)
306 obs / 451.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.17 (0.09–0.35)
0≤0.351.4
Missense OE0.68 (0.62–0.74)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 5 / 30.2Missense obs/exp: 306 / 451.5Syn Z: -0.59

ClinVar Variant Classifications

273 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic130
Likely Pathogenic2
VUS131
Likely Benign4
Benign6
130
Pathogenic
2
Likely Pathogenic
131
VUS
4
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
130
0
130
Likely Pathogenic
0
0
2
0
2
VUS
0
107
24
0
131
Likely Benign
0
2
1
1
4
Benign
0
1
3
2
6
Total01101603273

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

EXOC3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients