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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.
MYOZ2
myozenin 2
Chromosome 4 Β· 4q26
NCBI Gene: 51778Ensembl: ENSG00000172399.7HGNC: HGNC:1330UniProt: Q9NPC6
40PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
telethonin bindingprotein bindingactin bindingnegative regulation of calcineurin-NFAT signaling cascadehypertrophic cardiomyopathytype 2 diabetes mellitusHypercholesterolemiaAbnormality of the cardiovascular system
✦AI Summary

MYOZ2 (myozenin 2) is a sarcomeric Z-disc protein that functions as an intracellular binding protein linking Z-line components including alpha-actinin, gamma-filamin, TCAP/telethonin, and LDB3/ZASP, while modulating calcineurin signaling localization 1. The protein plays important roles in sarcomere organization and myofibrillogenesis. MYOZ2 mutations cause familial hypertrophic cardiomyopathy (HCM) 2, with identified mutations including S48P and I246M that affect highly conserved amino acids and cosegregate with disease 2. Pathogenesis appears independent of calcineurin activity, instead involving Z-disc abnormalities and altered phospho-ERK1/2 and JNK signaling 1. Beyond cardiac disease, MYOZ2 has broader clinical relevance: elevated expression in gastric cancer tissues correlates with increased migration, invasion, and poor prognosis 3, and MYOZ2 emerges as a candidate biomarker for myocardial fibrosis 4. Deletions affecting MYOZ2 have been identified in cholestasis patients 5. MYOZ2 variants also associate with left ventricular noncompaction severity 6. These findings position MYOZ2 as a multifunctional sarcomeric protein with significant cardiac and non-cardiac disease associations.

Sources cited
1
MYOZ2 is a Z-disk protein and novel causal gene for human hypertrophic cardiomyopathy; S48P and I246M mutations identified
PMID: 17347475
2
MYOZ2 mutations cause cardiac hypertrophy and Z-disc abnormalities independent of calcineurin activity; altered phospho-ERK1/2 and JNK signaling involved
PMID: 22987565
3
MYOZ2 overexpression in gastric cancer correlates with increased migration, invasion, and poor prognosis
PMID: 30280773
4
MYOZ2 identified as candidate biomarker for myocardial fibrosis with high diagnostic accuracy
PMID: 39699450
5
MYOZ2 variants associated with left ventricular noncompaction severity markers
PMID: 28798025
6
MYOZ2 disruption identified in cholestasis patients with chronic liver disease
PMID: 33075013
Disease Associationsβ“˜21
hypertrophic cardiomyopathyOpen Targets
0.62Moderate
type 2 diabetes mellitusOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.30Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
cardiomyopathyOpen Targets
0.19Weak
familial hypertrophic cardiomyopathyOpen Targets
0.15Weak
Miyoshi myopathyOpen Targets
0.10Weak
dislocationOpen Targets
0.09Suggestive
multiple myelomaOpen Targets
0.09Suggestive
left ventricular noncompactionOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
Distal myotilinopathyOpen Targets
0.06Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2EOpen Targets
0.06Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.06Suggestive
Cardiomyopathy, familial hypertrophic, 16UniProt
Pathogenic Variants1
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)Likely pathogenic
Hypertrophic cardiomyopathy 16|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 48
View on ClinVar β†—
Related Genes
MYH6Protein interaction99%MYL1Protein interaction97%TTNProtein interaction94%ACTN1Protein interaction93%FLNCProtein interaction93%MYOTProtein interaction93%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Ovary
0%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYOZ2MYH6MYL1TTNACTN1FLNCMYOT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NPC6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.49–1.03]
RankingsWhere MYOZ2 stands among ~20K protein-coding genes
  • #10,210of 20,598
    Most Researched40
  • #5,171of 5,498
    Most Pathogenic Variants1
  • #10,244of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedMYOZ2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
PMID: 28798025
Circ Cardiovasc Genet Β· 2017
1.00
2
Potential Biomarkers in Myocardial Fibrosis: A Bioinformatic Analysis.
PMID: 39699450
Arq Bras Cardiol Β· 2024
0.90
3
Expression and prognosis of MYOZ2 in gastric cancer.
PMID: 30280773
Eur Rev Med Pharmacol Sci Β· 2018
0.80
4
Cholestasis Due to USP53 Deficiency.
PMID: 33075013
J Pediatr Gastroenterol Nutr Β· 2021
0.70
5
Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.
PMID: 22987565
Cardiovasc Res Β· 2013
0.60