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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYOM3
myomesin 3
Chromosome 1 · 1p36.11
NCBI Gene: 127294Ensembl: ENSG00000142661.20HGNC: HGNC:26679UniProt: Q5VTT5
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
structural constituent of muscleprotein homodimerization activitysarcomere organizationM bandfrozen shoulderalcohol drinkingFlexion contractureDuchenne muscular dystrophy
✦AI Summary

MYOM3 (myomesin 3) is a structural protein that links the intermediate filament cytoskeleton to the M-disk of myofibrils in striated muscle 1. It functions as a component of M-band architecture and participates in sarcomere organization and muscle structural integrity 2. MYOM3 is implicated in multiple cardiac pathologies: rare loss-of-function variants in MYOM3 were identified in dilated cardiomyopathy (DCM) patients, with a stop-gained SNV showing association with DCM pathophysiology 3. In heart failure, MYOM3 expression is altered through DNA methylation changes, with hypermethylation associated with downregulation in dilated cardiomyopathy 4. Clinically, MYOM3 fragments circulate in serum and serve as biomarkers for muscle disease monitoring: elevated MYOM3 fragments are present in Duchenne muscular dystrophy and other muscular dystrophies, with levels responding to therapeutic interventions and showing lower variability than creatine kinase 5. Recently, MYOM3 has been identified as a plasma biomarker for distinguishing immune checkpoint inhibitor-related myocarditis from acute myocardial infarction 1, and for detecting retinal vascular involvement in pediatric uveitis through association with coagulation cascade pathways 6. These findings suggest MYOM3 as both a functional cardiac-skeletal protein and a promising diagnostic biomarker for multiple muscle and immune-mediated pathologies.

Sources cited
1
MYOM3 identified as plasma biomarker distinguishing immune checkpoint inhibitor-related myocarditis from acute myocardial infarction
PMID: 40811862
2
Rare loss-of-function MYOM3 variants identified in dilated cardiomyopathy patients with stop-gained SNV in perfect linkage disequilibrium
PMID: 29886034
3
MYOM3 hypermethylation associated with downregulated expression in dilated cardiomyopathy heart tissue
PMID: 30798618
4
MYOM3 fragments present in serum of muscular dystrophy patients; levels respond to therapeutic interventions with lower inter-individual variability than creatine kinase
PMID: 26060189
5
MYOM3 expression upregulated in primary inferior oblique overaction; gene related to M-band organization in muscle
PMID: 40452936
6
MYOM3 identified as serum biomarker associated with retinal vascular involvement in pediatric uveitis through coagulation cascade pathway
PMID: 38573655
7
MYOM3 elevated in Duchenne muscular dystrophy dog model with age-associated pattern similar to DMD patients
PMID: 35600245
Disease Associationsⓘ20
frozen shoulderOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.28Weak
Flexion contractureOpen Targets
0.11Weak
Duchenne muscular dystrophyOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.04Suggestive
sialolithiasisOpen Targets
0.03Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2DOpen Targets
0.02Suggestive
muscular dystrophyOpen Targets
0.02Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
myocarditisOpen Targets
0.01Suggestive
limb-girdle muscular dystrophyOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
sessile serrated polypOpen Targets
0.01Suggestive
acute myocardial infarctionOpen Targets
0.01Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.01Suggestive
central nervous system cancerOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYBPC1Shared pathway100%MYBPC2Shared pathway100%MYBPHShared pathway50%MYOM2Shared pathway50%CSRP1Shared pathway33%CSRP2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Brain
0%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYOM3MYBPC1MYBPC2MYBPHMYOM2CSRP1CSRP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5VTT5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.71–0.94]
RankingsWhere MYOM3 stands among ~20K protein-coding genes
  • #15,065of 20,598
    Most Researched17
  • #8,698of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedMYOM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of features and differences in PD-1 inhibitor-associated myocarditis and acute myocardial infarction using proteomic analysis: a clinical and preclinical study.
PMID: 40811862
Biochem Cell Biol · 2025
1.00
2
Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.
PMID: 29886034
Gene · 2018
0.90
3
Gene expression profiling of extraocular muscles in primary inferior oblique overaction.
PMID: 40452936
PeerJ · 2025
0.80
4
Targeted DNA Methylation Profiling of Human Cardiac Tissue Reveals Novel Epigenetic Traits and Gene Deregulation Across Different Heart Failure Patient Subtypes.
PMID: 30798618
Circ Heart Fail · 2019
0.70
5
Serum Biomarkers of Vascular Involvement in Childhood Uveitis.
PMID: 38573655
Transl Vis Sci Technol · 2024
0.60