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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
Corresponding disease
ASD3 atrial septal defect 3
CMD1EE cardiomyopathy, dilated, 1EE
CMH6 hypertrophic cardiomyopathy, familial, 6
SSS3 Sick sinus syndrome 3
Location 14q11.2      Physical location : 23.851.198 - 23.877.486
Synonym name
  • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • alpha myosin heavy chain
  • Synonym symbol(s) MYH6A, MYHCA, MYHC, alpha-MHC, MYHCA
    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
    Physical map
    RNPC4 14q11.2 RNA-binding region (RNP1, RRM) containing 4 SKB1 14q11.2-q21 SKB1 homolog (S. pombe) C14orf94 14q11.1 chromosome 14 open reading frame 94 JUB 14q11.2 jub, ajuba homolog (Xenopus laevis) C14orf93 14q11.1 chromosome 14 open reading frame 93 PSMB5 14q11.2 proteasome (prosome, macropain) subunit, beta type, 5 LOC122706 14q11.2 similar to RIKEN cDNA 5830406J20 CDH24 14q11.2 cadherin-like 24 ACINUS 14q11.2 apoptotic chromatin condensation inducer in the nucleus C14orf119 14q11.2 chromosome 14 open reading frame 119 CEBPE 14q11.2 CCAAT/enhancer binding protein (C/EBP), epsilon SLC7A8 14q11.2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 RPL39P2 14 ribosomal protein L39 pseudogene 2 HMGN2P 14 high-mobility group nucleosomal binding domain 2 pseudogene KIAA1443 14q11.2 KIAA1443 LOC90673 BCL2L2 14q11.2-q12 BCL2-like 2 PABPN1 14q11.2-q13 poly(A) binding protein, nuclear 1 SLC22A17 14q11.2 solute carrier family 22 (organic cation transporter), member 17 EFS 14q11.2-q12 embryonal Fyn-associated substrate IL17E 14q11.2 interleukin 17E CKLFSF5 14q11.2 chemokine-like factor super family 5 MYH6 14q11.2 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) MYH7 14q11.2 myosin, heavy polypeptide 7, cardiac muscle, beta C14orf120 14q11.2 chromosome 14 open reading frame 120 ZFHX2 14q11.2 zinc finger homeobox 2 ZNF409 14q11.2 zinc finger protein 409 THTPA 14q11.2 thiamine triphosphatase AP1G2 14q11.2 adaptor-related protein complex 1, gamma 2 subunit JPHL1 14q11 junctophilin like 1 LOC387974 14 LOC387974 DHRS2 14q11.2 dehydrogenase/reductase (SDR family) member 2 BRD7P 14q11.2 bromodomain containing 7 pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 5941 223.6 1939 - 2008 18511944
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   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
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    activation of myosin by omecamtiv mecarbil may provide a new therapeutic approach for systolic heart failure
    ANIMAL & CELL MODELS