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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYO18B
myosin XVIIIB
Chromosome 22 Β· 22q12.1
NCBI Gene: 84700Ensembl: ENSG00000133454.16HGNC: HGNC:18150UniProt: Q8IUG5
39PubMed Papers
21Diseases
0Drugs
140Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmunconventional myosin complexcentrosomecytoplasmKlippel-Feil anomaly-myopathy-facial dysmorphism syndromeatrial fibrillationgenetic disorderBrugada syndrome
✦AI Summary

MYO18B encodes myosin XVIIIB, a structural myosin that lacks active ATPase-driven motor activity and functions in organizing contractile machinery in both muscle and non-muscle cells 1. The protein localizes to diverse cellular compartments including lamella, actomyosin bundles, the Golgi apparatus, focal adhesions, and sarcomeres, where it contributes to organization, maturation, and regulation of contractile structures 1. MYO18B functions as a tumor suppressor gene, with frequent inactivation in lung cancers (approximately 50%) through deletion, mutation, and promoter methylation 2. Restoration of MYO18B expression suppresses anchorage-independent growth in lung cancer cells and inhibits tumor progression in malignant pleural mesothelioma 23. The gene is also inactivated in colorectal cancers through similar mechanisms, particularly histone deacetylation 4. Expression is regulated by histone acetylation, with deacetylation contributing to gene silencing in cancer cells 5. Gene amplification of MYO18B occurs during myogenic differentiation, suggesting a role in muscle cell development 6. High MYO18B expression predicts favorable prognosis in cutaneous squamous-cell carcinoma and is associated with smaller tumor size 7. The gene is also associated with cardiac aging and cardiomyopathy-related phenotypes 8.

Sources cited
1
MYO18B is a structural myosin lacking ATPase motor activity that functions in organizing contractile machinery
PMID: 32451870
2
MYO18B functions as tumor suppressor frequently inactivated in lung cancers and suppresses anchorage-independent growth
PMID: 12209013
3
MYO18B restoration inhibits tumor growth and progression in malignant pleural mesothelioma
PMID: 17294804
4
MYO18B is inactivated in colorectal cancers through histone deacetylation and other mechanisms
PMID: 15751041
5
MYO18B expression is regulated by histone acetylation in lung cancer cells
PMID: 15101048
6
MYO18B undergoes gene amplification during myogenic differentiation
PMID: 26760505
7
High MYO18B expression predicts favorable prognosis in cutaneous squamous-cell carcinoma
PMID: 33555505
8
MYO18B is associated with cardiac aging and cardiomyopathy-related phenotypes
PMID: 39148824
Disease Associationsβ“˜21
Klippel-Feil anomaly-myopathy-facial dysmorphism syndromeOpen Targets
0.79Strong
atrial fibrillationOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.45Moderate
Brugada syndromeOpen Targets
0.43Moderate
mathematical abilityOpen Targets
0.42Moderate
nemaline myopathyOpen Targets
0.35Weak
Cervical C2/C3 vertebral fusionOpen Targets
0.27Weak
Klippel-Feil syndromeOpen Targets
0.27Weak
immune system diseaseOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
septic shockOpen Targets
0.26Weak
poisoningOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.25Weak
plasma protein metabolism diseaseOpen Targets
0.20Weak
benign neoplasm of eyeOpen Targets
0.18Weak
gastrointestinal diseaseOpen Targets
0.17Weak
cardiomyopathyOpen Targets
0.12Weak
Fraser syndromeOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
bone remodeling diseaseOpen Targets
0.09Suggestive
Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismUniProt
Pathogenic Variants140
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 950
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1037
NM_032608.7(MYO18B):c.1385_1386del (p.Glu462fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 462
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter)Pathogenic
not provided|MYO18B-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1733
NM_032608.7(MYO18B):c.3880_3884del (p.Arg1294fs)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1294
NM_032608.7(MYO18B):c.31G>T (p.Glu11Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 11
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 2302
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2220
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1598
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)Pathogenic
Klippel-Feil syndrome|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1680
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 2275
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 57
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1599
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter)Pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 876
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)Pathogenic
not provided|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1363
NM_032608.7(MYO18B):c.530del (p.Pro177fs)Pathogenic
not provided|MYO18B-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 177
NM_032608.7(MYO18B):c.2212-1G>APathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|not provided
β˜…β˜…β˜†β˜†2023
NM_032608.7(MYO18B):c.1692+1G>ALikely pathogenic
MYO18B-related disorder|not provided
β˜…β˜…β˜†β˜†2023
NM_032608.7(MYO18B):c.5884C>T (p.Arg1962Ter)Likely pathogenic
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 1962
NM_032608.7(MYO18B):c.3520A>T (p.Lys1174Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1174
View on ClinVar β†—
Related Genes
MYL6BProtein interaction98%MYL12BProtein interaction96%GRK3Protein interaction93%SEZ6LProtein interaction93%MYO1FProtein interaction91%MYO1CProtein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
MYO18BMYL6BMYL12BGRK3SEZ6LMYO1FMYO1C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IUG5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.72–0.91]
RankingsWhere MYO18B stands among ~20K protein-coding genes
  • #10,360of 20,598
    Most Researched39
  • #546of 5,498
    Most Pathogenic Variants140 Β· top 10%
  • #8,311of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedMYO18B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Myosin XVIII.
PMID: 32451870
Adv Exp Med Biol Β· 2020
1.00
2
Correlation between histone acetylation and expression of the MYO18B gene in human lung cancer cells.
PMID: 15101048
Genes Chromosomes Cancer Β· 2004
0.90
3
MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer.
PMID: 12209013
Proc Natl Acad Sci U S A Β· 2002
0.80
4
Restored expression of the MYO18B gene suppresses orthotopic growth and the production of bloody pleural effusion by human malignant pleural mesothelioma cells in SCID mice.
PMID: 17294804
Oncol Res Β· 2006
0.70
5
Genetic and epigenetic alterations of the candidate tumor-suppressor gene MYO18B, on chromosome arm 22q, in colorectal cancer.
PMID: 15751041
Genes Chromosomes Cancer Β· 2005
0.60