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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, alphaMHC, alpha myosin, cardiomyopathy, hypertrophic 1, Myhc-a, Myhca
  • Feature Type
    protein coding gene
  • IDs
    MGI:97255
    NCBI Gene: 17888
  • Alliance
    gene page
  • Transcription Start Sites
    78 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:55179378-55204384 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 28.01 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    781 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97255
 protein coding gene Chr14:55179378-55205553 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021334
 protein coding gene Chr14:48924646-48974240 (-)
A/J MGP_AJ_G0021293
 protein coding gene Chr14:47959429-47986357 (-)
AKR/J MGP_AKRJ_G0021269
 protein coding gene Chr14:49704475-49740499 (-)
BALB/cJ MGP_BALBcJ_G0021297
 protein coding gene Chr14:47936866-47962676 (-)
C3H/HeJ MGP_C3HHeJ_G0021077
 protein coding gene Chr14:49398158-49426234 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021735
 protein coding gene Chr14:51396719-51426831 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019282
 protein coding gene Chr14:46372889-46397895 (-)
CAST/EiJ MGP_CASTEiJ_G0020596
 protein coding gene Chr14:45637373-45664835 (-)
CBA/J MGP_CBAJ_G0021044
 protein coding gene Chr14:52954416-52985248 (-)
DBA/2J MGP_DBA2J_G0021165
 protein coding gene Chr14:47701475-47727042 (-)
FVB/NJ MGP_FVBNJ_G0021147
 protein coding gene Chr14:47160203-47190001 (-)
LP/J MGP_LPJ_G0021239
 protein coding gene Chr14:49944122-50016464 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021171
 protein coding gene Chr14:52341481-52369846 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021762
 protein coding gene Chr14:48882011-48911459 (-)
PWK/PhJ MGP_PWKPhJ_G0020343
 protein coding gene Chr14:44236518-44264320 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020171
 protein coding gene Chr14:44866710-44894984 (-)
WSB/EiJ MGP_WSBEiJ_G0020649
 protein coding gene Chr14:49179452-49206504 (-)



Homology
more
  • Human Ortholog
    MYH6, myosin heavy chain 6
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYH6, myosin heavy chain 6
  • Synonyms
    alpha-MHC, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3
  • Links
    NCBI Gene ID: 4624
    neXtProt AC: NX_P13533
    UniProt: P13533

  • Chr Location
    14q11.2; chr14:23381982-23408273 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Myh6 mouse models; 6 with human MYH6 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 7 models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    48 phenotypes from 7 alleles in 7 genetic backgrounds
    36 phenotypes from multigenic genotypes
    5 images
    68 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    72
  • GO References
    23
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1041
  • Tissues
    101
  • cDNA Data
    14
  • Literature Summary
    149
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040752 Ensembl Gene Model | MGI Sequence Detail 25007 C57BL/6J ±  kb
    transcript ENSMUST00000226297 Ensembl | MGI Sequence Detail 6008 Not Applicable  
    polypeptide ENSMUSP00000154634 Ensembl | MGI Sequence Detail 1938 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 1
      cDNA 16
      Primer pair 22
      Other 13

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12741, MGD-MRK-12743, MGI:2145563
    References
    more
    • Summaries
      All 292
      Developmental Gene Expression 149
      Diseases 8
      Gene Ontology 23
      Phenotypes 68
    • 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:358518 Sur M, et al., Investigation into Cardiac Myhc-alpha 334-352-Specific TCR Transgenic Mice Reveals a Role for Cytotoxic CD4 T Cells in the Development of Cardiac Autoimmunity. Cells. 2024 Jan 26;13(3)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory