EXOC7

Chr 17AR

exocyst complex component 7

Also known as: 2-5-3p, BLOM4, EX070, EXO70, Exo70p, NEDSEBA, YJL085W

NCBI Gene: 23265UniProt: Q9UPT5

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with seizures and brain atrophyMIM #619072
AR
0
Active trials
182
ClinVar variants
19
Pathogenic / LP
1.9
Missense Z
0.65
LOEUF
5
Pubs (2 yr)
Clinical Summary— EXOC7
🧬
Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · ARModerate

Moderate evidence — consider for supplementary testing

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 133 VUS of 182 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.65LOEUF
pLI 0.000
Z-score 3.32
OE 0.44 (0.30–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.88Z-score
OE missense 0.75 (0.69–0.82)
344 obs / 457.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.30–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.69–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
0≤1.21.6
LoF obs/exp: 18 / 41.0Missense obs/exp: 344 / 457.0Syn Z: 1.05

ClinVar Variant Classifications

182 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
VUS133
Likely Benign27
Benign3
18
Pathogenic
1
Likely Pathogenic
133
VUS
27
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
16
0
18
Likely Pathogenic
0
0
1
0
1
VUS
2
126
5
0
133
Likely Benign
0
12
2
13
27
Benign
0
1
1
1
3
Total31402514182

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

View in ClinVar →

Protein Context — Lollipop Plot

EXOC7 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Neurodevelopmental disorder with seizures and brain atrophy

MIM #619072

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Coulter ME et al.·Genet Med
2020
LncRNA ZNF649-AS1 promotes trastuzumab resistance and TAM-dependent PD-L1 expression in breast cancer by regulating EXOC7 alternative splicing.
Dong H et al.·Arch Biochem Biophys
2024
Cancer cells resist antibody-mediated destruction by neutrophils through activation of the exocyst complex.
van Rees DJ et al.·J Immunother Cancer
2022
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
Ullah A et al.·Neurogenetics
2022
Androgen receptor decreases renal cell carcinoma bone metastases via suppressing the osteolytic formation through altering a novel circEXOC7 regulatory axis.
Gong D et al.·Clin Transl Med
2021
PTBP1-Mediated Alternative Splicing Regulates the Inflammatory Secretome and the Pro-tumorigenic Effects of Senescent Cells.
Georgilis A et al.·Cancer Cell
2018
Novel interaction partners of Bardet-Biedl syndrome proteins.
Oeffner F et al.·Cell Motil Cytoskeleton
2008
A multigene predictor of metastatic outcome in early stage hormone receptor-negative and triple-negative breast cancer.
Yau C et al.·Breast Cancer Res
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Identification of Alternative Splicing Events Associated with Paratuberculosis in Dairy Cattle Using Multi-Tissue RNA Sequencing Data
Li H et al.·Genes (Basel)
2022
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Sahajpal NS et al.·Mol Cytogenet
2023
Identification of m6A-modified gene signatures in lung adenocarcinoma tumorigenesis and their potential role in drug resistance
Han X et al.·Discov Oncol
2025
Corrigendum to "LncRNA ZNF649-AS1 promotes trastuzumab resistance and TAM-dependent PD-L1 expression in breast cancer by regulating EXOC7 alternative splicing" [Archiv. Biochem. Biophys. 761 (2024) 110128].
Dong H et al.·Arch Biochem Biophys
2024
Exploring the role of miR-125b-5p as a pro-inflammatory factor in Alzheimer's disease pathology.
Liu W et al.·J Alzheimers Dis
2024
SARS-CoV-2 encoded microRNAs are involved in the process of virus infection and host immune response
Liu Z et al.·J Biomed Res
2021
Lithium enhances exercise-induced glycogen breakdown and insulin-induced AKT activation to facilitate glucose uptake in rodent skeletal muscle
Jung SR et al.·Pflugers Arch
2021
Top 7 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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