• Gene id: 51778

Gene Summary

• Gene Symbol: MYOZ2   Gene   UCSC   Ensembl
• Aliases: C4orf5, CMH16, CS-1, FATZ-2
• Gene name: myozenin 2
• Alternate names: myozenin-2, FATZ-related protein 2, calcineurin-binding protein calsarcin-1, muscle-specific protein,
• Gene location: 4q26 (119135831: 119187788)     Exons: 7     NC_000004.12
• Gene summary(Entrez): 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-
• OMIM: 607429

Protein Summary

• Protein general information: Q9NPC6  
  • Name: Myozenin 2 (Calsarcin 1) (FATZ related protein 2)
  • Length: 264  
  • Mass: 29898
  • Tissue specificity: Expressed specifically in heart and skeletal muscle. {ECO
• Sequence:

  MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKMRQRRSDKYTFENFQY
  QSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNPDNIAPGYSGPLKEIPPEKFNTTAVPKYYQS
  PWEQAISNDPELLEALYPKLFKPEGKAELPDYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNP
  LSGRRSFNRTPKGWISENIPIVITTEPTDDTTVPESEDL

• Structural information:
  • Interpro: IPR008438  
  • STRING: ENSP00000306997
• Other Databases: GeneCards:  MYOZ2  Malacards:  MYOZ2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030018	Z disc	IBA	cellular component
GO:0031433	telethonin binding	IBA	molecular function
GO:0003779	actin binding	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0051373	FATZ binding	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043503	skeletal muscle fiber adaptation	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0043503	skeletal muscle fiber adaptation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0045214	sarcomere organization	ISS	biological process
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	ISS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0031433	telethonin binding	IPI	molecular function
GO:0030018	Z disc	NAS	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030017	sarcomere	TAS	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030346	protein phosphatase 2B binding	NAS	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray