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Myh6 Gene Detail
Summary
  • Symbol
    Myh6
  • Name
    myosin, heavy polypeptide 6, cardiac muscle, alpha
  • Synonyms
    A830009F23Rik, alpha cardiac MHC, alpha-MHC, alpha myosin, cardiomyopathy, hypertrophic 1, Myhca, Myhc-a
  • Feature Type
    protein coding gene
  • IDs
    MGI:97255
    NCBI Gene: 17888
Location & Maps
more
  • Sequence Map
    Chr14:54941981-54966927 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24947 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MYH6, myosin, heavy chain 6, cardiac muscle, alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MYH6, myosin, heavy chain 6, cardiac muscle, alpha
    Orthology source: HomoloGene
  • Synonyms
    alpha-MHC, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3
  • Links
    NCBI Gene ID: 4624
    neXtProt AC: NX_P13533

  • Chr Location
    14q12; chr14:23381990-23408277 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 124414
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MYH6
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Myh6 mouse models; 5 with human MYH6 associations

Human Disease Mouse Models
       Cardiomyopathy, Familial Hypertrophic, 14; CMH14   OMIM: 613251 View 6 models
       Atrial Septal Defect 3; ASD3   OMIM: 614089
Cardiomyopathy, Dilated, 1ee; CMD1EE   OMIM: 613252
Cardiomyopathy, Familial Hypertrophic, 1; CMH1   OMIM: 192600
Sick Sinus Syndrome 3, Susceptibility To; SSS3   OMIM: 614090
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 6 alleles in 6 genetic backgrounds
    16 phenotypes from multigenic genotypes
    5 images
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Targeted
    8
  • Transgenic
    3
  • Genomic Mutations
    1 involving Myh6
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016384 VEGA Gene Model | MGI Sequence Detail 24947 C57BL/6J ±  kb
transcript OTTMUST00000039447 VEGA | MGI Sequence Detail 6053 Not Applicable  
polypeptide OTTMUSP00000017624 VEGA | MGI Sequence Detail 1938 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    398 from dbSNP Build 137
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 28
    Genomic 1
    cDNA 14
    Primer pair 8
    Other 5

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12741, MGD-MRK-12743, MGI:2145563
References
more
  • Summaries
    All 184
    Developmental Gene Expression 95
    Diseases 8
    Gene Ontology 22
    Phenotypes 45
  • 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:221894 Gonzalez-Valdes I, et al., Bmi1 limits dilated cardiomyopathy and heart failure by inhibiting cardiac senescence. Nat Commun. 2015;6:6473

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory