MYOZ2 Gene - Myozenin 2
A sarcomeric protein involved in cardiac muscle function and associated with hypertrophic cardiomyopathy.
Gene Information Card
| Symbol | MYOZ2 |
|---|---|
| Full Name | Myozenin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 51778 ncbi.nlm.nih.gov/gene/51778 |
| Ensembl ID | ENSG00000164070 |
| UniProt ID | Q9NPC6 |
| OMIM ID | 605602 |
| HGNC ID | 13381 |
| Aliases | C4orf5, calsarcin-1, CS-1, FATZ-2 |
Description
MYOZ2 (myozenin 2) encodes a sarcomeric protein that binds to alpha-actinin and gamma-filamin, localizing to the Z-disc of cardiac and skeletal muscle. It plays a role in calcineurin signaling and muscle differentiation. Mutations in MYOZ2 are associated with familial hypertrophic cardiomyopathy (HCM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Missense mutations in MYOZ2 disrupt Z-disc integrity and calcineurin signaling, leading to myocyte hypertrophy and disarray. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.1 | High |
| Esophagus | 4.3 | Low |
| Adipose Tissue | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 35.0 | High expression |
| Skeletal Muscle Myoblasts (HSMM) | 18.7 | Moderate expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ile91Met | Missense | Rare | Associated with HCM; alters Z-disc binding |
| p.Arg145Cys | Missense | Rare | Likely pathogenic; disrupts calcineurin interaction |
Mutation functional classification
Loss of Function (LOF)
Not established for MYOZ2; most reported mutations are missense with dominant-negative or altered function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Proposed for HCM-associated MYOZ2 mutations, as mutant protein may interfere with Z-disc assembly.
View complete mutation data：
Gene Ontology (GO)
| • Z disc | • sarcomere |
| • actin binding | • calmodulin binding |
| • muscle contraction | • cardiac muscle cell development |
Pathways
• Cardiac muscle contraction (Reactome: R-HSA-397014)
• Calcineurin-NFAT signaling (Reactome: R-HSA-202403)
Protein Summary
Myozenin 2 (calsarcin-1) is a 299-amino acid protein localized to the Z-disc of cardiac and skeletal muscle. It interacts with alpha-actinin, gamma-filamin, and calcineurin, modulating calcium-dependent signaling. It is essential for maintaining sarcomeric structure and regulating hypertrophic responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOZ2 Knockout HEK293 Cell Line | EDJ-KQ11220 | Human | 51778 | Details Get a Quote |
| MYOZ2 Knockout HeLa Cell Line | EDJ-KQ56360 | Human | 51778 | Details Get a Quote |
| MYOZ2 Knockout A-549 Cell Line | EDJ-KQ64850 | Human | 51778 | Details Get a Quote |
| MYOZ2 Knockout HCT 116 Cell Line | EDJ-KQ73294 | Human | 51778 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
