Gene: MYOZ2

Alternate names for this Gene: C4orf5|CMH16|CS-1|FATZ-2

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q26

Description of this Gene: myozenin 2

Type of Gene: protein-coding

rs140126678 in MYOZ2 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 PMID 17347475 2007 Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.

rs7655064 in MYOZ2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.