MYOZ2 - myozenin 2 Gene

Also Known as CS-1; CMH16; C4orf5; FATZ-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51778

About MYOZ2

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:119,135,832-119,187,789 (from NCBI)

This gene has 1 transcript (splice variant), 281 orthologues, 2 paralogues and is associated with 2 phenotypes. Restricted expression toward heart (RPKM 236.3).

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]

MYOZ2 Products (1)

mRNA	Protein	Name
NM_016599.5	NP_057683.1	myozenin-2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10427098	GOA
enables telethonin binding	IPI IPI: Inferred from physical interaction	15582318	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYOZ2 Protein Structure

Calsarcin

0
100
200
264 a.a.

Protein Preferred Names	Protein Names
myozenin-2	FATZ-related protein 2

MYOZ2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYOZ2	Q9NPC6	DRICH1	Homo sapiens	Q6PGQ1	Y2H Array	25416956
Intra	MYOZ2	Q9NPC6	WWOX	Homo sapiens	Q9NZC7-5	Y2H Prey Pooling	32296183
Intra	MYOZ2	Q9NPC6	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
Intra	MYOZ2	Q9NPC6	WWOX	Homo sapiens	Q9NZC7-5	Y2H Array	32296183
Intra	MYOZ2	Q9NPC6	q9y649_human	Homo sapiens	Q9Y649	Y2H Array	32814053
Intra	MYOZ2	Q9NPC6	q9y649_human	Homo sapiens	Q9Y649	Y2H Pooling	32814053
Intra	MYOZ2	Q9NPC6	q9y649_human	Homo sapiens	Q9Y649	Validated Y2H	32814053
Intra	MYOZ2	Q9NPC6	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	MYOZ2	Q9NPC6	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	MYOZ2	Q9NPC6	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	MYOZ2	Q9NPC6	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	MYOZ2	Q9NPC6	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	MYOZ2	Q9NPC6	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Validated Y2H	25910212
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Y2H Array	25910212
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Validated Y2H	25416956
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Y2H Prey Pooling	32296183
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Y2H Bait-Prey Pool	25910212
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Y2H Array	32296183
Intra	MYOZ2	Q9NPC6	ACTN4	Homo sapiens	O43707	Y2H Pooling	19447967
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Y2H Prey Pooling	32296183
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Y2H Array	25416956
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Y2H Bait-Prey Pool	25910212
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Y2H Array	32296183
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Validated Y2H	25910212
Intra	MYOZ2	Q9NPC6	ACTN1	Homo sapiens	P12814	Y2H Array	25910212
Intra	MYOZ2	Q9NPC6	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	MYOZ2	Q9NPC6	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	MYOZ2	Q9NPC6	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Y2H Array	31515488
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Validated Y2H	25416956
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Validated Y2H	25910212
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Y2H Bait-Prey Pool	25910212
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Y2H Array	25910212
Intra	MYOZ2	Q9NPC6	ACTN2	Homo sapiens	P35609	Y2H Array	25416956
Intra	MYOZ2	Q9NPC6	TCAP	Homo sapiens	O15273	Y2H	15582318

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MYOZ2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70919	MYOZ2 Protein, Human (His)	Q9NPC6 (M1-L264)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic Cardiomyopathy 16 CMH16 Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy Familial Hypertrophic 16 Cardiomyopathy, Familial Hypertrophic 16 Cardiomyopathy, Hypertrophic, Familial, Type 16
Pleomorphic Adenoma	Mixed Tumor Of The Salivary Gland Adenoma Pleomorphic Adenoma, Pleomorphic Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Muscle Hypertrophy	MSLHP Hypertrophy Hypertrophy, Muscle
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Cantu Syndrome	Hypertrichotic Osteochondrodysplasia Hypertrichotic Osteochondrodysplasia Cantu Type Cantú Syndrome Craniofaciocardioskeletal Syndrome Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum Congenital Hypertrichosis-Coarse Facial Features Spectrum HTOCD Osteochondrodysplasia, Hypertrichotic
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Rhabdomyosarcoma
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Myopathy	Muscular Diseases Myopathies
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08966	MYOZ2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22666	Myoz2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29180	Myoz2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MYOZ2	VGNC	VGNC:31841
Rattus norvegicus	MYOZ2	RGD	RGD:1307669
Canis familiaris	MYOZ2	VGNC	VGNC:43584
Macaca mulatta	MYOZ2	VGNC	VGNC:74950
Felis catus	MYOZ2	VGNC	VGNC:63694
Mus musculus	MYOZ2	MGD	MGI:1913063
Others	MYOZ2	NCBI