MYOZ2 (myozenin 2)

Gene

• Entrez ID: 51778
• Gene name: Myozenin 2
• Gene symbol: MYOZ2
• Synonyms: C4orf5, CMH16, CS-1, FATZ-2
• Chromosome: 4
• Chromosome location: 4q26
• 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. [provided by RefSeq, Aug 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140126678	A>G	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs143345726	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT664176	hsa-miR-7641	HITS-CLIP	23824327
MIRT664177	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT664178	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT664179	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT664180	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664181	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT664182	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT664183	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664184	hsa-miR-5096	HITS-CLIP	23824327
MIRT664185	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664186	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664187	hsa-miR-621	HITS-CLIP	23824327
MIRT664188	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT664189	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT664190	hsa-miR-4676-5p	HITS-CLIP	23824327
MIRT664191	hsa-miR-575	HITS-CLIP	23824327
MIRT664192	hsa-miR-6858-3p	HITS-CLIP	23824327
MIRT664193	hsa-miR-4524b-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003779	Function	Actin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10427098, 11114196, 11842093, 15582318, 16076904, 16189514, 19447967, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0007519	Process	Skeletal muscle tissue development	ISS
GO:0008150	Process	Biological_process	ND
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0030017	Component	Sarcomere	TAS	11114196
GO:0030018	Component	Z disc	IBA	21873635
GO:0030018	Component	Z disc	ISS
GO:0030018	Component	Z disc	NAS	15582318
GO:0030346	Function	Protein phosphatase 2B binding	NAS	11114196
GO:0031433	Function	Telethonin binding	IBA	21873635
GO:0031433	Function	Telethonin binding	IPI	15582318
GO:0043503	Process	Skeletal muscle fiber adaptation	ISS
GO:0045214	Process	Sarcomere organization	ISS
GO:0051373	Function	FATZ binding	IBA	21873635
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS

Other IDs

• MIM: 605602
• HGNC: 1330
• e!Ensembl: ENSG00000172399

Protein

• UniProt ID: Q9NPC6
• Protein name: Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05556	Calsarcin	1 → 264	Calcineurin-binding protein (Calsarcin)	Family

• Sequence:

  MLSHNTMMKQRKQQATAIMKEVHGNDVDGMDLGKKVSIPRDIMLEELSHLSNRGARLFKM
  RQRRSDKYTFENFQYQSRAQINHSIAMQNGKVDGSNLEGGSQQAPLTPPNTPDPRSPPNP
  DNIAPGYSGPLKEIPPEKFNTTAVPKYYQSPWEQAISNDPELLEALYPKLFKPEGKAELP
  DYRSFNRVATPFGGFEKASRMVKFKVPDFELLLLTDPRFMSFVNPLSGRRSFNRTPKGWI
  SENIPIVITTEPTDDTTVPESEDL

• Sequence length: 264

Associated diseases

Disease name	Disease term	References
	Cardiomyopathies
	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16	17347475
	Hypertrophic Cardiomyopathy	22987565, 18591919, 11114196, 17347475
	NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
	Left Ventricular Hypertrophy