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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYOM2
myomesin 2
Chromosome 8 · 8p23.3
NCBI Gene: 9172Ensembl: ENSG00000036448.11HGNC: HGNC:7614UniProt: P54296
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
kinase bindingprotein bindingmitochondrionsarcomere organizationinfectious meningitisalcohol drinkingtrauma complicationnutritional deficiency disease
✦AI Summary

MYOM2 (myomesin 2) is a major structural component of the myofibrillar M-band in the sarcomere, where it functions as a hub gene binding myosin, titin, and light meromyosin in a dose-dependent manner 1. The gene is transcriptionally regulated by the SIM2/ARNT1 heterodimer complex through a non-canonical E-box sequence 2. MYOM2 mutations are associated with congenital and acquired cardiac diseases. Patient-derived cardiomyocytes carrying MYOM2 mutations exhibit myofibrillar disarray and reduced passive force generation 1. Disease models demonstrate that MYOM2 loss-of-function causes diastolic dysfunction, cardiac arrhythmias, and increased oxidative stress 3, while animal studies reveal synergistic genetic interactions between MYOM2 and other sarcomere genes 1. MYOM2 has been identified as a candidate gene for hypertrophic cardiomyopathy and Tetralogy of Fallot 1. Plasma MYOM2 levels serve as a biomarker for muscle disease severity. In oculopharyngeal muscular dystrophy, circulating MYOM2 protein levels are elevated over 200% in patients with limb weakness and correlate strongly with muscle fatty infiltration 4. Additionally, MYOM2 reduction in plasma represents a biomarker of dystrophin restoration in Duchenne muscular dystrophy treatment response 5. MYOM2 expression is upregulated in extraocular muscles exhibiting primary inferior oblique overaction 6.

Sources cited
1
MYOM2 is a major M-band component with mutations causing cardiomyopathies and congenital heart disease; demonstrates myofibrillar disarray and reduced passive force
PMID: 33033063
2
MYOM2 is transcriptionally regulated by SIM2/ARNT1 heterodimer via non-canonical E-box sequence
PMID: 18480125
3
MYOM2 knockdown causes diastolic dysfunction, arrhythmias, and increased cardiac oxidative stress; exercise ameliorates these defects
PMID: 36554435
4
Plasma MYOM2 is a biomarker elevated >200% in muscular dystrophy with limb weakness; correlates with muscle fatty infiltration
PMID: 39973404
5
MYOM2 reduction in plasma is a biomarker of therapeutic response in Duchenne muscular dystrophy
PMID: 39793573
6
MYOM2 is upregulated in extraocular muscles of primary inferior oblique overaction
PMID: 40452936
Disease Associationsⓘ20
infectious meningitisOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.33Weak
trauma complicationOpen Targets
0.33Weak
nutritional deficiency diseaseOpen Targets
0.32Weak
cerebral atherosclerosisOpen Targets
0.32Weak
Alzheimer diseaseOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Parkinson diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.30Weak
exostosisOpen Targets
0.26Weak
liver diseaseOpen Targets
0.21Weak
ovarian dysfunctionOpen Targets
0.21Weak
breast benign neoplasmOpen Targets
0.19Weak
VitiligoOpen Targets
0.19Weak
Flexion contractureOpen Targets
0.14Weak
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
skin basal cell carcinomaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLGProtein interaction99%ALBProtein interaction98%TRAF3Protein interaction96%FN1Protein interaction96%TBK1Protein interaction95%CD46Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
1%
Liver
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYOM2PLGALBTRAF3FN1TBK1CD46
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P54296
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.32 [1.19–1.46]
RankingsWhere MYOM2 stands among ~20K protein-coding genes
  • #12,395of 20,598
    Most Researched28
  • #14,955of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedMYOM2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
PMID: 33925474
Genes (Basel) · 2021
1.00
2
Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.
PMID: 39793573
Cell Rep Med · 2025
0.90
3
Identification of
PMID: 33033063
Dis Model Mech · 2020
0.80
4
Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3.
PMID: 9933576
Genomics · 1999
0.70
5
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy.
PMID: 39973404
J Neuromuscul Dis · 2025
0.60