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FLASH GENE

Symbol

MYH6

contributors: mct - updated : 03-06-2014

HGNC name	myosin, heavy chain 6, cardiac muscle, alpha
HGNC id	7576

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	arranged in tandem with MYH7 on human chromosome 14, separated by 4.5 kb of intergenic sequence
STRUCTURE	26.29 kb     39 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter is repressed by the transcription factor Yin Yang 1 (YY1)
	several putative binding sites for TBX5 in the MYH6 upstream region , at least 16

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - ANG - D14S72 - D14S50 - TRA@ /D - D14S60 - (5'- MYH7 - MYH6 -3') - D14S26 - D14S25 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002471 39 - 5941 NP_002462 223.6 1939 - 2008 18511944

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 atrium     highly Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

Text	in the developing heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head associating to the light chain and containing actin and ATP binding sites
	a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail
	a cargo binding domain that seems to be folded back in the presence of the catalytic head, constituting a potential regulatory mechanism that inhibits dimerization

mono polymer

heteromer , dimer , hexamer

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	motor contractile protein moving towards the "plus" end of actin track
	having an important role in heart development and congenital heart disorders
	importance of cardiac myosin (MYH6) in the development of cardiac arrhythmias

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a complex consisting of two heavy chain subunits, two light chain subunits and two regulatory subunits

INTERACTION

DNA

RNA

small molecule

protein

interacting with TBX5 and MEF2C (association of TBX5 with MEF2C cooperatively activates transcription from the MYH6 promoter)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMH6 , ASD3 , SSS3 , CMD1EE

Susceptibility

to variation of cardiac conduction

Variant & Polymorphism SNP	c.2161C>T missense mutation in MYH6 resulting in p.Arg721Trp associates with SSS3
	common variants in this gene modulate cardiac conduction affecting heart rate and the PR intervall

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular aquired heart failure activation of myosin by omecamtiv mecarbil may provide a new therapeutic approach for systolic heart failure

ANIMAL & CELL MODELS