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MYH6 Gene

protein-coding   GIFtS: 63
GCID: GC14M023851

Myosin, Heavy Chain 6, Cardiac Muscle, Alpha

(Previous names: myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Heavy Chain 6, Cardiac Muscle, Alpha1 2     SSS32 5
MYHCA2 3 5     cardiomyopathy1
Myosin, Heavy Polypeptide 6, Cardiac Muscle, Alpha (Cardiomyopathy,
Hypertrophic 1)1 2
     Hypertrophic 11
Myosin Heavy Chain 62 3     MYHC2
Myosin Heavy Chain, Cardiac Muscle Alpha Isoform2 3     alpha-MHC2
ASD32 5     myHC-alpha2
CMD1EE2 5     myosin-62
CMH142 5     MyHC-alpha3

External Ids:    HGNC: 75761   Entrez Gene: 46242   Ensembl: ENSG000001976167   OMIM: 1607105   UniProtKB: P135333   

Export aliases for MYH6 gene to outside databases

Previous GC identifers: GC14M021223 GC14M017638 GC14M021841 GC14M022921 GC14M003967


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYH6 Gene:
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two
regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb
downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause
familial hypertrophic cardiomyopathy and atrial septal defect 3. (provided by RefSeq, Mar 2010)

GeneCards Summary for MYH6 Gene:
MYH6 (myosin, heavy chain 6, cardiac muscle, alpha) is a protein-coding gene. Diseases associated with MYH6 include myocarditis, and atrial septal defect 3. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533
Function: Muscle contraction

summary for MYH6 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYH6 gene promoter:
         MEF-2   HNF-4alpha2   c-Ets-1   HNF-4alpha1   YY1   MEF-2A   PPAR-alpha   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH6 promoter sequence
   Search Chromatin IP Primers for MYH6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2-q13

MYH6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023851:  view genomic region     (about GC identifiers)

Start:
23,851,199 bp from pter      End:
23,877,486 bp from pter
Size:
26,288 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533 (See protein sequence)
Recommended Name: Myosin-6  
Size: 1939 amino acids; 223735 Da
Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain
subunits (MLC) and 2 regulatory light chain subunits (MLC-2)
Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6
(MYO6)
Sequence caution: Sequence=CAA29120.1; Type=Erroneous gene model prediction;
Secondary accessions: A2RTX1 D9YZU2 Q13943 Q14906 Q14907

Explore the universe of human proteins at neXtProt for MYH6: NX_P13533

Explore proteomics data for MYH6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys206, Lys207, Lys214, Lys1281, Lys1539, Lys1571
  • Modification sites at PhosphoSitePlus

  • See MYH6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002462.2  
    ENSEMBL proteins: 
     ENSP00000348634   ENSP00000386041  
    Reactome Protein details: P13533

    MYH6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYH6

    MYH6 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH6
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    Abcam antibodies for MYH6 (Q9Y623, P11055, P05976, P13533, P60660, P12882)
    Cloud-Clone Corp. Antibodies for MYH6
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    GenScript Custom Assay Services for MYH6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MYH6
    Cloud-Clone Corp. CLIAs for MYH6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYHII: Myosins / Myosin superfamily : Class II

    Selected InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR015650 Myosin_1/23/4/6/7/8/13/15
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry P13533

    ProtoNet protein and cluster: P13533

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of
    4 heptapeptides, characteristic for alpha-helical coiled coils
    Domain: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can
    later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2)
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    MYH6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH6_HUMAN, P13533
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH6:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 6,cardiac
    muscle,alpha

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity ISS--
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    MYH6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYH6:
     Big cells 

         5 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Myh6):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    MYH6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myh6tm1Rbns for MYH6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYH6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH6

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYH6
    Predesigned siRNA for gene silencing in human, mouse, rat MYH6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MYH6

    Clone
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    OriGene clones in human, mouse for MYH6 (see all 5)
    OriGene ORF clones in mouse, rat for MYH6
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    GenScript: all cDNA clones in your preferred vector: MYH6 (NM_002471)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH6

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYH6_HUMAN, P13533: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4
    endoplasmic reticulum2
    extracellular1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    MYH6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYH6 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    5Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH6 (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    Selected GeneGo (Thomson Reuters) Pathways for MYH6 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    2 BioSystems Pathways for MYH6
        Cardiac Progenitor Differentiation
    Striated Muscle Contraction

    2 Reactome Pathways for MYH6
        Translocation of GLUT4 to the plasma membrane
    Striated Muscle Contraction


    Selected Kegg Pathways  (Kegg details for MYH6) (see all 7):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Tight junction
    Thyroid hormone signaling pathway
    Hypertrophic cardiomyopathy (HCM)


    MYH6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH6: 
              Terminal Differentiation Markers in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYH6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYH6 (P135333 ENSP000003486344) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMC1P621913, ENSP000002613034I2D: score=1 STRING: ENSP00000261303
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    GIPC1O149083, ENSP000003406984I2D: score=1 STRING: ENSP00000340698
    SMYD2Q9NRG43, ENSP000003559244I2D: score=1 STRING: ENSP00000355924
    RAD51Q066093I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ISS--
    GO:0002026regulation of the force of heart contraction ISS--
    GO:0002027regulation of heart rate IDA15621050
    GO:0006200ATP catabolic process IMP15621050
    GO:0006936muscle contraction IDA15621050

    MYH6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MYH6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    Selected Novoseek inferred chemical compound relationships for MYH6 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    etomoxir 65.9 3 10887055 (2), 11866664 (1)
    triiodothyronine 38.9 2 15282446 (1), 2296592 (1)
    mspi 23.6 1 9747442 (1)
    ryanodine 17.8 3 18452785 (3)
    chloramphenicol 17.3 1 11859427 (1)
    neomycin 16.5 2 13678453 (1), 14578102 (1)
    isoproterenol 13.6 1 16501029 (1)
    succinate 7.17 1 11029969 (1)
    retinoic acid 6.18 2 9220339 (1)
    lipid 5.65 1 17213206 (1)



    MYH6 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYH6 gene: 
    NM_002471.3  

    Unigene Cluster for MYH6:

    Myosin, heavy chain 6, cardiac muscle, alpha
    Hs.278432  [show with all ESTs]
    Unigene Representative Sequence: NM_002471
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356287 ENST00000557461(uc010akp.2) ENST00000405093(uc001wjv.3)

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    GenScript: all cDNA clones in your preferred vector: MYH6 (NM_002471)
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      QuantiFast Probe-based Assays in human, mouse, rat MYH6

    Additional mRNA sequence: 

    AF056928.1 AK309494.1 BC117511.1 BC132667.1 D00943.1 M21664.1 X56181.1 

    4 DOTS entries:

    DT.95255603  DT.100791347  DT.100791343  DT.450919 

    Selected AceView cDNA sequences (see all 640):

    F26129 F27606 AJ710171 F27231 F24972 CF552042 CF553018 F28559 
    F24332 CF552875 BQ953944 F34349 F18713 CF552414 BX280252 AJ709618 
    T28694 CF552688 AJ711607 BI831786 AJ707344 F27807 CF552861 AA248307 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYH6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYH6 Expression
    About this image


    MYH6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 22 entries
             Cardiomyocytes Left Atrium
             Heart Tube
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like progenitor cells
     
     NULL (Uncategorized)    fully expand to see all 8 entries
             Floating colonies of cardiomyocytes
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             Extraocular Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
    MYH6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278432
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH6: 
              Terminal Differentiation Markers in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MYH6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYH6
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    QuantiFast Probe-based Assays in human, mouse, rat MYH6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYH6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh61 , 5 myosin, heavy polypeptide 6, cardiac muscle, alpha1, 5 91.68(n)1
    97.01(a)1
      14 (28.01 cM)5
    178881  NM_010856.41  NP_034986.11 
     549522465 
    chicken
    (Gallus gallus)
    Aves MYH151 myosin, heavy chain 15 71.79(n)
    78.83(a)
      395534  NM_204766.1  NP_990097.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia myh61 myosin, heavy chain 6, cardiac muscle, alpha 77.75(n)
    89.43(a)
      100216059  XM_004910758.1  XP_004910815.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myh61 myosin, heavy polypeptide 6, cardiac muscle, alpha 73.25(n)
    83.15(a)
      386711  NM_198823.1  NP_942118.1 


    ENSEMBL Gene Tree for MYH6 (if available)
    TreeFam Gene Tree for MYH6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH6 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  
    MYH7B2  MYH42  MYH32  MYH152  MYH72  
    Selected SIMAP similar genes for MYH6 using alignment to 2 protein entries:     MYH6_HUMAN (see all proteins) (see all similar genes):
    alpha-MHC    MYH7    MYH4    MYH8    MYH1    MYH13
    MYH2    MYH3    MYH15    MYH7B    MYH16    MYH9
    MYO10    MYH10    MYH11    MYO5B    MYO5C    MYH14

    MYH6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYH6 (see all 1109)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1439786521,2,,4
    C,FCardiomyopathy, dilated 1EE (CMD1EE)4 pathogenic14859630(+) ATGGGC/ACTCTT 2 /A /S mis12Minor allele frequency- A:0.00NA EU 5875
    VAR_0318834
    Atrial septal defect 3 (ASD3)4--see VAR_0318832 I N mis40--------
    VAR_0655614
    Sick sinus syndrome 3 (SSS3)4--see VAR_0655612 R W mis40--------
    VAR_0318824
    Cardiomyopathy, familial hypertrophic 14 (CMH14)4--see VAR_0318822 R Q mis40--------
    VAR_0635544
    Cardiomyopathy, familial hypertrophic 14 (CMH14)4--see VAR_0635542 Q H mis40--------
    VAR_0635574
    Cardiomyopathy, dilated 1EE (CMD1EE)4--see VAR_0635572 E K mis40--------
    VAR_0635524
    Cardiomyopathy, dilated 1EE (CMD1EE)4--see VAR_0635522 P L mis40--------
    rs1500812801,2
    C,Fprobable-non-pathogenic14854075(+) AGCTCA/CGACTG 2 S syn11Minor allele frequency- C:0.00NA 4542
    rs1939226521,2
    Cprobable-non-pathogenic14855256(-) CCCCC-/CTCCCC 1 -- int11Minor allele frequency- C:0.00CSA 2
    rs781070391,2
    C,Fprobable-non-pathogenic14868893(+) ACATCG/AGTGGC 2 /T syn15Minor allele frequency- A:0.04CSA WA NA EU 5685

    HapMap Linkage Disequilibrium report for MYH6 (23851199 - 23877486 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYH6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748480CNV Deletion23290073
    nsv901493CNV Loss21882294
    nsv456166CNV Gain19166990
    nsv470623CNV Gain18288195

    Human Gene Mutation Database (HGMD): MYH6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH6
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160710   
    OMIM disorders: 613251  614089  613252  614090  
    UniProtKB/Swiss-Prot: MYH6_HUMAN, P13533
  • Atrial septal defect 3 (ASD3) [MIM:614089]: A congenital heart malformation characterized by incomplete
    closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Sick sinus syndrome 3 (SSS3) [MIM:614090]: The term 'sick sinus syndrome' encompasses a variety of
    conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope,
    dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial
    block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are
    also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or
    previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other
    contributing factors. Note=Disease susceptibility is associated with variations affecting the gene represented in
    this entry (PubMed:21378987). The lifetime risk of being diagnosed with sick sinus syndrome is higher for
    carriers of variant p.Arg721Trp than for non-carriers (PubMed:21378987)

  • Selected diseases for MYH6 (see all 48):    
    About MalaCards
    myocarditis    atrial septal defect 3    cardiomyopathy, dilated, 1ee    myh6-related dilated cardiomyopathy
    cardiomyopathy, familial hypertrophic, 14    myh6-related familial hypertrophic cardiomyopathy    sick sinus syndrome 3    heart septal defect
    myopathy congenital    myosin storage myopathy    myh9-related disorders    autoimmune myocarditis
    atrial septal defect 8    sick sinus syndrome 2    atrial heart septal defect    sick sinus syndrome
    caveolinopathies    holt-oram syndrome    charcot-marie-tooth disease type 1a    familial hypertrophic cardiomyopathy

    5 diseases from the University of Copenhagen DISEASES database for MYH6:
    Hypertrophic cardiomyopathy     Familial hypertrophic cardiomyopathy     Dilated cardiomyopathy     Myopathy
    Myocarditis

    MYH6 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MYH6 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 64.8 7 15950203 (2), 11692158 (1), 10869539 (1), 10639182 (1) (see all 5)
    hypertrophy 57 1 17379774 (1)
    heart failure 52.9 11 15367688 (2), 19854200 (1), 18022084 (1), 12754214 (1) (see all 9)
    holt-oram syndrome 49 1 15735645 (1)
    myopathy 48.7 15 11114175 (2), 15605950 (2), 14991352 (1), 15737621 (1) (see all 11)
    inclusion body myopathy 47.9 1 11114175 (1)
    cardiomyopathy 46 5 17434305 (1), 19854200 (1), 15867177 (1), 16402410 (1) (see all 5)
    myopathy, congenital 38 1 16130113 (1)
    myocarditis 37.8 3 16402410 (1), 15286386 (1)
    atrial septal defects 24.1 1 15735645 (1)

    GeneTests: MYH6
    GeneReviews: MYH6
    Genetic Association Database (GAD): MYH6
    Human Genome Epidemiology (HuGE) Navigator: MYH6 (9 documents)

    Export disorders for MYH6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYH6 gene, integrated from 10 sources (see all 235):
    (articles sorted by number of sources associating them with MYH6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. (PubMed id 15998695)1, 2, 4, 9 Carniel E.... Mestroni L. (Circulation 2005)
    2. Mutation in myosin heavy chain 6 causes atrial septal defect. (PubMed id 15735645)1, 2, 9 Ching Y.-H.... Brook J.D. (Nat. Genet. 2005)
    3. Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences. (PubMed id 1776652)1, 2, 9 Matsuoka R.... Takao A. (Am. J. Med. Genet. 1991)
    4. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 20215591)1, 4, 9 Hershberger R.E....Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010)
    5. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. (PubMed id 11815426)1, 2, 9 Niimura H.... Seidman C.E. (Circulation 2002)
    6. Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). (PubMed id 8307559)1, 2, 9 Epp T.A.... Liew C.-C. (Genomics 1993)
    7. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. (PubMed id 21378987)1, 2 Holm H.... Stefansson K. (Nat. Genet. 2011)
    8. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. (PubMed id 20656787)1, 4 Granados-Riveron J.T....David Brook J. (Hum. Mol. Genet. 2010)
    9. Genome-wide association analysis identifies multiple loci related to resting heart rate. (PubMed id 20639392)1, 4 Eijgelsheim M....O'Donnell C.J. (Hum. Mol. Genet. 2010)
    10. Several common variants modulate heart rate, PR interval and QRS duration. (PubMed id 20062063)1, 4 Holm H....Stefansson K. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4624 HGNC: 7576 AceView: MYH7andMYH6 Ensembl:ENSG00000197616 euGenes: HUgn4624
    ECgene: MYH6 Kegg: 4624 H-InvDB: MYH6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYH6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH6 gene:
    Search GeneIP for patents involving MYH6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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