Version: 8.0.0Date: Tue Jan 28 2025
Gene
MYOZ2
- Species
- Homo sapiens
- Symbol
- MYOZ2
- Name
- myozenin 2
- Synonyms
- C4orf5
- calcineurin-binding protein calsarcin-1
- Biotype
- protein coding gene
- Automated Description
- Enables telethonin binding activity. Predicted to be involved in several processes, including negative regulation of calcineurin-NFAT signaling cascade; sarcomere organization; and skeletal muscle fiber adaptation. Predicted to be located in sarcomere. Predicted to be active in Z disc and actin cytoskeleton. Implicated in hypertrophic cardiomyopathy 16.
- RGD Description
- The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15941
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr4:119135832...119187789 + (51.96 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction