Myh6
Gene Detail

Symbol Name ID

Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha MGI:97255

Synonyms

A830009F23Rik, alpha cardiac MHC, alpha-MHC, alpha myosin, cardiomyopathy, hypertrophic 1, Myhca, Myhc-a

Feature Type

protein coding gene

Genetic Map

Chromosome 14

28.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr14:54952246-54966927 bp, - strand From VEGA annotation of GRCm38   14682 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:124414  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Myh6

Human homologs

Human Homolog		MYH6, myosin, heavy chain 6, cardiac muscle, alpha
NCBI Gene ID		4624
neXtProt AC		NX_P13533
Human Synonyms		alpha-MHC, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3
Human Chr (Location)		14q12; chr14:23851199-23877486 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human MYH6

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy.

 
Human Diseases Modeled Using Mouse Myh6 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(5)

Gene Ontology (GO) classifications

All GO classifications: (62 annotations)

Process	actin filament-based movement, adult heart development, ...
Component	cytoplasm, focal adhesion, ...
Function	actin binding, actin-dependent ATPase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (75 records)
Data Summary: Results (140)    Tissues (34)    Images (40)
Theiler Stages: 11, 12, 13, 14, 15, 16, 17, 19, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	8
RNA in situ	103
Northern blot	5
RT-PCR	24

cDNA source data(114)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(125) Genomic(1) cDNA(116) Primer pair(4) Other(4)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000016384 (Evidence)
Ensembl Gene Model	ENSMUSG00000040752 (Evidence)
Entrez Gene	17888 (Evidence)
UniGene	290003
DFCI	TC1577524, TC1610322
DoTS	DT.101310310, DT.110747575, DT.110747576, DT.110747601, DT.60173600, DT.91390078, DT.91417865
Consensus CDS Project	CCDS36927.1
International Mouse Knockout Project Status	Myh6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016384	VEGA Gene Model | MGI Sequence Detail	14682	C57BL/6J
transcript	OTTMUST00000039447	VEGA | MGI Sequence Detail	3578	Not Applicable
polypeptide	OTTMUSP00000017624	VEGA | MGI Sequence Detail	1114	Not Applicable

All sequences(68) RefSeq(4) UniProt(11)

Polymorphisms

RFLP(7) : SNPs(265 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000048	IQ motif, EF-hand binding site
InterPro	IPR001609	Myosin head, motor domain
InterPro	IPR004009	Myosin, N-terminal, SH3-like
InterPro	IPR008989	Myosin S1 fragment, N-terminal
InterPro	IPR002928	Myosin tail
Protein Ontology	PR:000010829	myosin-6

References

(Earliest) J:8079 Weydert A, et al., Genes for skeletal muscle myosin heavy chains are clustered and are not located on the same mouse chromosome as a cardiac myosin heavy chain gene. Proc Natl Acad Sci U S A. 1985 Nov;82(21):7183-7
(Latest) J:190992 Harmelink C, et al., Myocardial Mycn is essential for mouse ventricular wall morphogenesis. Dev Biol. 2013 Jan 1;373(1):53-63
All references(164)

Other accession IDs

MGD-MRK-12741, MGD-MRK-12743, MGI:2145563