MYO18A

Chr 17

myosin XVIIIA

Also known as: MAJN, MYSPDZ, SP-R210, SPR210, TIAF1

NCBI Gene: 399687UniProt: Q92614

The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]

0
Active trials
371
ClinVar variants
8
Pathogenic / LP
2.5
Missense Z
0.29
LOEUF· LoF intolerant
7
Pubs (2 yr)
Clinical Summary— MYO18A
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 321 VUS of 371 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
LoF intolerant — likely haploinsufficient
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.
0.29LOEUF
pLI 0.987
Z-score 7.49
OE 0.20 (0.14–0.29)
Highly constrained

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

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.
2.45Z-score
OE missense 0.80 (0.76–0.85)
1000 obs / 1243.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

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.0.20 (0.14–0.29)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.80 (0.76–0.85)
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.0.89
0≤1.21.6
LoF obs/exp: 20 / 101.4Missense obs/exp: 1000 / 1243.5Syn Z: 1.89

ClinVar Variant Classifications

371 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS321
Likely Benign25
Benign17
6
Pathogenic
2
Likely Pathogenic
321
VUS
25
Likely Benign
17
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
2
0
2
VUS
1
298
22
0
321
Likely Benign
1
13
5
6
25
Benign
0
2
3
12
17
Total23133818371

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

View in ClinVar →

Protein Context — Lollipop Plot

MYO18A · 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
MYOSIN XVIIIA; MYO18A
MIM #610067 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Golgicide A induces pyroptosis of lung cancer stem cells by regulating dTGN formation via GOLPH3/MYO18A complex.
Zhang F et al.·Stem Cell Res Ther
2025
The genomic landscape of Ménière's disease: a path to endolymphatic hydrops.
Fisch KM et al.·BMC Genomics
2024
Myosin18B predicts favorable prognosis of cutaneous squamous-cell carcinoma.
Cao C et al.·Genes Genomics
2021
Specific Myosins Control Actin Organization, Cell Morphology, and Migration in Prostate Cancer Cells.
Makowska KA et al.·Cell Rep
2015
Novel West syndrome candidate genes in a Chinese cohort.
Peng J et al.·CNS Neurosci Ther
2018Cohort
Proteomic analysis of α4β1 integrin adhesion complexes reveals α-subunit-dependent protein recruitment.
Byron A et al.·Proteomics
2012
A novel protective role for microRNA-3135b in Golgi apparatus fragmentation induced by chemotherapy via GOLPH3/AKT1/mTOR axis in colorectal cancer cells.
Núñez-Olvera SI et al.·Sci Rep
2020
Descriptive transcriptomic profiling differentiates oral leukoplakia from proliferative verrucous leukoplakia and reveals distinct molecular signatures.
Pérez-Sayáns M et al.·Med Oral Patol Oral Cir Bucal
2026
Exon array analysis using re-defined probe sets results in reliable identification of alternatively spliced genes in non-small cell lung cancer.
Langer W et al.·BMC Genomics
2010
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
Griseri P et al.·Eur J Hum Genet
2009Case report
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
Top 4 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