MYOZ2

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]

Description

Myozenin 2

Tissue specificity

Tissue enhanced (heart muscle, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (119135832 - 119187789)

Ensembl ID

ENSG00000172399  (ver. 103.38)

Orthologs

Mouse Myoz2: ENSMUSG00000028116

UniProt

Q9NPC6

neXtProt

NX_Q9NPC6

Human splice variants
Mouse splice variants

Protein structure