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FLASH GENE

Symbol

MYOZ2

contributors: shn/npt - updated : 18-03-2009

HGNC name	myozenin 2
HGNC id	1330

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q26      Physical location : 120.056.938 - 120.108.935
Synonym name	chromosome 4 open reading frame 5
	calsarcin-1, FATZ-related protein 2
	muscle-specific protein calcineurin-binding protein calsarcin-1
Synonym symbol(s)	CS-1, C4orf5

DNA

TYPE	functioning gene
STRUCTURE	51.99 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D4S191 - D4S3024 - MYOZ2 - D4S402 - D4S427 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MYOZ2 6 splicing 2.616 variant 1 30 264 specific to heart and skeletal muscle Ahmad et al, 2000

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       specific

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	developing cardiac and skeletal muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	alpha helices and several posible phosphorylation sites
	shares the C-terminal motif E[ST][DE][D/E]L, which has the characteristics of a class III type PDZ domain binding sequence

HOMOLOGY

interspecies	ortholog to Myoz2, Mus musculus
	ortholog to Myoz2, rattus norvegicus
	ortholog to MYOZ2, Pan troglodytes
	ortholog to myoz2, Danio rerio

Homologene

FAMILY

myozenin family

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	may serve as intracellular binding proteins involved in linking Z-disk proteins
	plays an important role in the modulation of calcineurin signaling
	may have an important role in modulating the function and substrate specificity of calcineurin in striated muscle cells
	may play a role in myofibrillogenesis
	MYOZ2 modulates calcineurin signaling in striated muscles in vivo and influences the response of the heart to biomechanical stress

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with TCAP, which tethers the calcineurin to the Z-disc
	calcineurin
	gamma-filamin
	interacts with family members ZASP/Cypher, CLP-36, ALP,
	and RIL
	ACTN2,ATCN1, LDB3, MYOT and PPP3CA
	Z- band alternatively spliced PDZ motif-cntaining protein (ZASP)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Myoz2 -/- mice showed an enhanced calcineurin signaling in striated muscle, an excess of slow skeletal muscle fibers and an accelerated cardiomyopathy in response to pathological biomechanical stress
	Myoz2-overexpressing mice did not develop cardiac hypertrophy and had no impairment of contractile function by cardiac catheterization and echocardiography