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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EXOC7
exocyst complex component 7
Chromosome 17 Β· 17q25.1
NCBI Gene: 23265Ensembl: ENSG00000182473.22HGNC: HGNC:23214UniProt: B4DJ07
100PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activitypositive regulation of mitotic cytokinetic processregulation of entry of bacterium into host cellneurodevelopmental disorder with seizures and brain atrophyneurodegenerative diseasegenetic disordermicrocephaly
✦AI Summary

EXOC7 (exocyst complex component 7) is a core component of the exocyst, an octameric protein complex essential for tethering secretory vesicles to the plasma membrane prior to SNARE-mediated fusion 1. In adipocytes, EXOC7 plays a critical role in insulin-stimulated glucose transporter 4 (GLUT4) translocation by directing vesicles to precise fusion sites on the plasma membrane 2. Beyond metabolic regulation, EXOC7 is essential for neuronal development and survival; homozygous loss-of-function variants cause neurodevelopmental disorder characterized by brain atrophy, seizures, developmental delay, microcephaly, and infantile death 3. In cancer biology, EXOC7 has dual roles: its alternative splicing isoform EXOC7-S promotes trastuzumab resistance in HER2-positive breast cancer via altered immune signaling 4, while EXOC7 enables tumor cell membrane repair following neutrophil-mediated trogocytosis, allowing escape from antibody-dependent cellular cytotoxicity 5. Additionally, EXOC7 transamidation enhances tumor metastasis through promotion of matrix metalloproteinase secretion and invadopodia formation 6. In polyglutamine diseases, EXOC7 modulates proteotoxic stress by regulating ubiquitin-proteasome function 7. These findings establish EXOC7 as a multifunctional protein with critical roles in development, metabolism, and cancer pathogenesis.

Sources cited
1
EXOC7 loss-of-function variants cause brain atrophy, seizures, developmental delay, microcephaly, and infantile death; essential for cortical development
PMID: 32103185
2
EXOC7 is critical for insulin-stimulated GLUT4 exocytosis in adipocytes
PMID: 31740584
3
Exocyst complex functions in tethering secretory vesicles to plasma membrane
PMID: 26240175
4
EXOC7-S splice variant promotes trastuzumab resistance and TAM-dependent PD-L1 expression in HER2-positive breast cancer
PMID: 39159899
5
EXOC7 enables tumor cell membrane repair after neutrophil trogocytosis, promoting escape from antibody-dependent cellular cytotoxicity
PMID: 35728876
6
EXOC7 (Exo70) transamidation promotes tumor metastasis through matrix metalloproteinase secretion and invadopodia formation
PMID: 39146185
7
EXOC7 modulates polyQ protein toxicity in spinocerebellar ataxia type 3 through regulation of ubiquitin-proteasome function
PMID: 33542212
Disease Associationsβ“˜21
neurodevelopmental disorder with seizures and brain atrophyOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.41Moderate
microcephalyOpen Targets
0.26Weak
Brain atrophyOpen Targets
0.26Weak
SeizureOpen Targets
0.25Weak
developmental disabilityOpen Targets
0.25Weak
complex neurodevelopmental disorderOpen Targets
0.18Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
pachyonychia congenitaOpen Targets
0.04Suggestive
COVID-19Open Targets
0.03Suggestive
concussionOpen Targets
0.02Suggestive
viral pneumoniaOpen Targets
0.02Suggestive
liver cancerOpen Targets
0.02Suggestive
liver neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Spinocerebellar ataxia type 3Open Targets
0.02Suggestive
Global developmental delayOpen Targets
0.01Suggestive
Neurodevelopmental disorder with seizures and brain atrophyUniProt
Pathogenic Variants5
NM_001013839.4(EXOC7):c.1045C>T (p.Gln349Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 349
NM_001013839.4(EXOC7):c.809-2A>GPathogenic
Neurodevelopmental disorder with seizures and brain atrophy
β˜…β˜†β˜†β˜†2024
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del)Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy
β˜†β˜†β˜†β˜†2020β†’ Residue 353
NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del)Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy
β˜†β˜†β˜†β˜†2020β†’ Residue 48
NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr)Pathogenic
Neurodevelopmental disorder with seizures and brain atrophy
β˜†β˜†β˜†β˜†2020β†’ Residue 523
View on ClinVar β†—
Related Genes
RAPGEF1Protein interaction100%MYO5AProtein interaction100%RAB13Protein interaction100%STXBP3Protein interaction100%TNFAIP2Protein interaction100%RAB11AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
82%
Brain
79%
Bone Marrow
79%
Lung
62%
Liver
50%
Gene Interaction Network
Click a node to explore
EXOC7RAPGEF1MYO5ARAB13STXBP3TNFAIP2RAB11A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UPT5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.48–0.76]
RankingsWhere EXOC7 stands among ~20K protein-coding genes
  • #4,779of 20,598
    Most Researched100 Β· top quartile
  • #3,525of 5,498
    Most Pathogenic Variants5
  • #6,082of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedEXOC7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
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
1.00
2
TGM1/3-mediated transamidation of Exo70 promotes tumor metastasis upon LKB1 inactivation.
PMID: 39146185
Cell Rep Β· 2024
0.90
3
A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
PMID: 33542212
Cell Death Dis Β· 2021
0.80
4
LncRNA ZNF649-AS1 promotes trastuzumab resistance and TAM-dependent PD-L1 expression in breast cancer by regulating EXOC7 alternative splicing.
PMID: 39159899
Arch Biochem Biophys Β· 2024
0.70
5
Appraising the Value of Serum and Serum-Derived Exosomal LncRNA-EXOC7 as a Promising Biomarker in Cervical Cancer.
PMID: 32658426
Clin Lab Β· 2020
0.60