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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYOZ3
myozenin 3
Chromosome 5 · 5q33.1
NCBI Gene: 91977Ensembl: ENSG00000164591.15HGNC: HGNC:18565UniProt: Q8TDC0
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtelethonin bindingactin bindingactin cytoskeletonintellectual developmental disorder, X-linked 110tooth diseasecervical carcinomaosteoarthritis
✦AI Summary

MYOZ3 (myozenin 3) is a Z-disc protein that functions as an intracellular binding protein linking sarcomeric Z-line components including alpha-actinin, gamma-filamin, TCAP/telethonin, and LDB3/ZASP, while localizing calcineurin signaling to the sarcomere. In chicken embryonic fibroblasts and myoblasts, MYOZ3 overexpression significantly upregulated cell proliferation rates and fast muscle-specific gene expression, with pathway analysis suggesting regulation of muscle fiber development through the PPAR signaling pathway 1. MYOZ3 plays an important role in myofibrillogenesis and modulation of calcineurin signaling. Clinically, rare loss-of-function variants in MYOZ3 are associated with sarcopenic obesity susceptibility (OR = 25.49, p = 1.41 × 10⁻⁷) 2, suggesting a protective role in maintaining muscle mass. Additionally, MYOZ3 was identified as a shared differentially expressed protein in skeletal muscle across multiple cancer cachexia models, indicating potential involvement in muscle wasting pathways 3. However, MYOZ3 variants (rs1142544043) were not associated with type 2 polysaccharide storage myopathy or myofibrillar myopathy in Quarter Horses, limiting their diagnostic utility in equine muscle disease 4.

Sources cited
1
MYOZ3 overexpression increases cell proliferation in embryonic muscle cells and regulates muscle fiber development through PPAR pathway
PMID: 29236749
2
Rare loss-of-function MYOZ3 variants associated with significantly increased sarcopenic obesity risk
PMID: 38267387
3
MYOZ3 is differentially expressed in skeletal muscle during cancer cachexia across multiple mouse models
PMID: 35289490
4
MYOZ3 variant rs1142544043 not associated with type 2 polysaccharide storage myopathy or myofibrillar myopathy in Quarter Horses
PMID: 35288976
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
tooth diseaseOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.00Suggestive
endometrial carcinomaOpen Targets
0.00Suggestive
chorioretinitisOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
congenital toxoplasmosisOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lupus nephritisOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LDB3Protein interaction88%TCAPProtein interaction85%FLNCProtein interaction83%ACTN2Protein interaction82%ACTN1Protein interaction71%
Tissue Expression6 tissues
Heart
100%
Ovary
12%
Lung
10%
Brain
9%
Bone Marrow
8%
Liver
3%
Gene Interaction Network
Click a node to explore
MYOZ3LDB3TCAPFLNCACTN2ACTN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TDC0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.50–1.04]
RankingsWhere MYOZ3 stands among ~20K protein-coding genes
  • #15,934of 20,598
    Most Researched14
  • #10,422of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedMYOZ3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Transcriptomic analysis of chicken Myozenin 3 regulation reveals its potential role in cell proliferation.
PMID: 29236749
PLoS One · 2017
1.00
2
Exome-Wide Sequencing Study Identified Genetic Variants Associated With Sarcopenic Obesity.
PMID: 38267387
J Gerontol A Biol Sci Med Sci · 2024
0.90
3
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.
PMID: 35288976
Equine Vet J · 2023
0.80
4
FRZB: a bone and joint connection.
PMID: 18050212
Arthritis Rheum · 2007
0.70
5
Expression Levels and Localizations of DVL3 and sFRP3 in Glioblastoma.
PMID: 29200599
Dis Markers · 2017
0.60