ID:MYOZ2_HUMAN DESCRIPTION: RecName: Full=Myozenin-2; AltName: Full=Calsarcin-1; AltName: Full=FATZ-related protein 2; FUNCTION: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis. SUBUNIT: Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ATCN1, LDB3, MYOT and PPP3CA. INTERACTION: O43707:ACTN4; NbExp=2; IntAct=EBI-746712, EBI-351526; SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle (By similarity). TISSUE SPECIFICITY: Expressed specifically in heart and skeletal muscle. DISEASE: Defects in MYOZ2 are the cause of familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838]. CMH16 is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. SIMILARITY: Belongs to the myozenin family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF05556 - Calcineurin-binding protein (Calsarcin)
ModBase Predicted Comparative 3D Structure on Q9NPC6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
