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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.
MYO9A
myosin IXA
Chromosome 15 Β· 15q23
NCBI Gene: 4649Ensembl: ENSG00000066933.18HGNC: HGNC:7608UniProt: B2RTY4
60PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingestablishment of epithelial cell apical/basal polaritycell junction assemblyregulation of neuron projection arborizationPresynaptic congenital myasthenic syndromespresynaptic congenital myasthenic syndromeadverse effectAbruptio Placentae
✦AI Summary

MYO9A encodes myosin IXA, an unconventional myosin motor protein that functions as a critical regulator of cellular architecture and signaling. The protein contains both motor and GTPase activating protein (GAP) domains, enabling it to regulate Rho GTPase activity while mediating actin-based cellular processes 1. MYO9A plays essential roles in epithelial cell junction assembly and polarity establishment, crosslinking and bundling actin filaments while deactivating RhoA to control cytoskeletal dynamics 1. In podocytes, MYO9A regulates cell attachment, migration, and maintains proper cytoskeletal architecture through its interaction with actin-calmodulin complexes 1. Disease relevance includes congenital myasthenic syndrome type 24, where MYO9A mutations impair neuromuscular junction function 2. Additionally, heterozygous loss-of-function mutations cause focal segmental glomerulosclerosis (FSGS) through podocyte dysfunction, as demonstrated in knock-in mice that develop proteinuria and kidney pathology 1. The protein also shows tumor suppressor properties in colorectal cancer, where downregulation disrupts epithelial polarity and contributes to worse prognosis 3. Clinically, MYO9A represents a potential therapeutic target for both kidney disease and cancer treatment.

Sources cited
1
MYO9A is a Rho-GAP containing unconventional myosin that regulates podocyte function and causes FSGS when mutated
PMID: 33412162
2
MYO9A mutations cause congenital myasthenic syndrome type 24
PMID: 36835142
3
MYO9A functions as a tumor suppressor in colorectal cancer and disrupts epithelial polarity when downregulated
PMID: 38858644
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Presynaptic congenital myasthenic syndromesOpen Targets
0.69Moderate
presynaptic congenital myasthenic syndromeOpen Targets
0.40Weak
adverse effectOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
goutOpen Targets
0.23Weak
liver diseaseOpen Targets
0.23Weak
gastrointestinal diseaseOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
focal segmental glomerulosclerosisOpen Targets
0.18Weak
bronchiectasisOpen Targets
0.14Weak
Flexion contractureOpen Targets
0.14Weak
nephrotic syndromeOpen Targets
0.09Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.09Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
nephrotic syndrome, type 24Open Targets
0.07Suggestive
nephrotic syndrome, type 23Open Targets
0.07Suggestive
nail-patella-like renal diseaseOpen Targets
0.07Suggestive
nephrotic syndrome, type 20Open Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
focal segmental glomerulosclerosis 7Open Targets
0.06Suggestive
Myasthenic syndrome, congenital, 24, presynapticUniProt
Pathogenic Variants2
NM_006901.4(MYO9A):c.1699C>T (p.Gln567Ter)Likely pathogenic
Myasthenic syndrome, congenital, 24, presynaptic
β˜…β˜†β˜†β˜†2025β†’ Residue 567
NM_006901.4(MYO9A):c.3001-2A>GLikely pathogenic
Myasthenic syndrome, congenital, 24, presynaptic
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
MYO6Protein interaction92%MYO1FProtein interaction91%MYO1CProtein interaction91%MYO18BProtein interaction91%MYL6BProtein interaction82%MYL6Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Ovary
94%
Heart
85%
Bone Marrow
81%
Lung
77%
Liver
26%
Gene Interaction Network
Click a node to explore
MYO9AMYO6MYO1FMYO1CMYO18BMYL6BMYL6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt B2RTY4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.34 [0.28–0.41]
RankingsWhere MYO9A stands among ~20K protein-coding genes
  • #7,687of 20,598
    Most Researched60
  • #4,408of 5,498
    Most Pathogenic Variants2
  • #2,156of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedMYO9A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
PMID: 36835142
Int J Mol Sci Β· 2023
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
0.80
4
Integrated multi-omics analyses revealed the association between rheumatoid arthritis and colorectal cancer: MYO9A as a shared gene signature and an immune-related therapeutic target.
PMID: 38858644
BMC Cancer Β· 2024
0.70
5
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
PMID: 10409426
Genomics Β· 1999
0.60