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MYH11 Gene

protein-coding   GIFtS: 71
GCID: GC16M015704

Myosin, Heavy Chain 11, Smooth Muscle

(Previous names: myosin, heavy polypeptide 11, smooth muscle)
  See MYH11-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 11, Smooth Muscle1 2     AAT42 5
Myosin, Heavy Polypeptide 11, Smooth Muscle1 2     FAA42 5
Myosin Heavy Chain 112 3     SMHC2
Myosin Heavy Chain, Smooth Muscle Isoform2 3     myosin-112
SMMHC2 3     KIAA08663

External Ids:    HGNC: 75691   Entrez Gene: 46292   Ensembl: ENSG000001333927   OMIM: 1607455   UniProtKB: P357493   

Export aliases for MYH11 gene to outside databases

Previous GC identifers: GC16M015624 GC16M015079 GC16M015724 GC16M015763 GC16M015190


(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 MYH11 Gene:
The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene
product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of
non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into
mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed
from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion
of chromosome 16 (inv(16)(p13q22)) produces a chimeric transcript that encodes a protein consisting of the first
165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the
smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the
M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing
during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been
identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYH11 Gene:
MYH11 (myosin, heavy chain 11, smooth muscle) is a protein-coding gene. Diseases associated with MYH11 include myh11-related thoracic aortic aneurysms and aortic dissections, and aortic aneurysm, familial thoracic 4. GO annotations related to this gene include structural constituent of muscle and calmodulin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749
Function: Muscle contraction

summary for MYH11 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 MYH11 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 at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  NT_187607.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYH11 gene promoter:
         GR   FOXI1   HFH-3   Ik-2   GR-beta   GR-alpha   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH11 promoter sequence
   Search Chromatin IP Primers for MYH11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH11


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

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13.11

MYH11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH11 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M015704:  view genomic region     (about GC identifiers)

Start:
15,796,992 bp from pter      End:
15,950,890 bp from pter
Size:
153,899 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749 (See protein sequence)
Recommended Name: Myosin-11  
Size: 1972 amino acids; 227339 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)
Sequence caution: Sequence=BAA74889.2; Type=Erroneous initiation;
Secondary accessions: D2JYH7 O00396 O94944 P78422 Q3MIV8 Q3MNF0 Q3MNF1
Alternative splicing: 4 isoforms:  P35749-1   P35749-2   P35749-3   P35749-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYH11: NX_P35749

Explore proteomics data for MYH11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys232, Lys767, Lys842, Lys1452
  • Modification sites at PhosphoSitePlus

  • See MYH11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001035202.1  NP_001035203.1  NP_002465.1  NP_074035.1  

    ENSEMBL proteins: 
     ENSP00000379616   ENSP00000407821   ENSP00000458731   ENSP00000300036  
    Reactome Protein details: P35749

    MYH11 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MYH11
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH11

     
    Search eBioscience for Proteins for MYH11 

     
    antibodies-online proteins for MYH11 (2 products) 

     
    Search antibodies-online for peptides for MYH11

    MYH11 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH11
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    ThermoFisher Antibody for MYH11
    antibodies-online antibodies for MYH11 (12 products) 

    MYH11 Assay Products:

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    antibodies-online kits for MYH11 (18 products) 


    (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
     IPR008989 Myosin_S1_N
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry P35749

    ProtoNet protein and cluster: P35749

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


    UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749
    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


    Find genes that share domains with MYH11           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH11_HUMAN, P35749
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH11:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 11,smooth
    muscle,altered in acute myeloid leukemia (AML-M4Eo) with inversion inv(16)(p13-q22),forming chimeric protein with
    CBFB

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0005515protein binding IPI19328794
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008307structural constituent of muscle IMP16444274
         
    Find genes that share ontologies with MYH11           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Myh11):
     cardiovascular system  digestive/alimentary  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  muscle  renal/urinary system  respiratory system 

    Find genes that share phenotypes with MYH11           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MYH11: Myh11tm1Bdr Myh11tm2Peri Myh11tm1Peri

       genOway: Develop your customized and physiologically relevant rodent model for MYH11

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MYH11 (see all 13):
    hsa-miR-30c hsa-miR-3606 hsa-miR-3607-5p hsa-miR-1914* hsa-miR-30d hsa-miR-30a hsa-miR-124 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidMYH11 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYH11

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): MYH11 (NM_022844)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH11

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH11


    (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
    MYH11_HUMAN, P35749: Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to
    stage IV. Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus3
    extracellular2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex IEA--
    GO:0016020membrane ----
    GO:0016459myosin complex ----

    Find genes that share ontologies with MYH11           About GenesLikeMe


    (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 MYH11 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell 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
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Semaphorin interactions
    Sema4D in semaphorin signaling0.90
    Semaphorin interactions0.43
    Sema4D induced cell migration and growth-cone collapse0.90
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35


    Find genes that share SuperPaths with MYH11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH11 (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 MYH11 (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 Reactome Pathways for MYH11
        Smooth Muscle Contraction
    Sema4D induced cell migration and growth-cone collapse


    2 Kegg Pathways  (Kegg details for MYH11):
        Vascular smooth muscle contraction
    Tight junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH11: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYH11

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

    Selected Interacting proteins for MYH11 (P357491, 2, 3 ENSP000003796164) via UniProtKB, MINT, STRING, and/or I2D (see all 248)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXQ9UER73, ENSP000002660004I2D: score=3 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=3 
    ENSG00000206279Q9UER73I2D: score=3 
    ENSG00000227046Q9UER73I2D: score=3 
    ENSG00000231617Q9UER73I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0006939smooth muscle contraction ISS--
    GO:0007411axon guidance TAS--
    GO:0016192vesicle-mediated transport ----
    GO:0030241skeletal muscle myosin thick filament assembly ISS--

    Find genes that share ontologies with MYH11           About GenesLikeMe



    (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 MYH11 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]

    2 DrugBank Compounds for MYH11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Tetrafluoroaluminate Ion-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for MYH11 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    15-deoxy-delta-12,14-prostaglandin j2 33.1 1 12615657 (1)
    hematoxylin 20.1 1 16771768 (1)
    ptca 15.6 2 10850529 (2)
    phosphatidylinositol 12.8 1 16310342 (1)
    estrogen 6.78 2 11474284 (1), 9761786 (1)
    ly294002 5.81 1 16310342 (1)
    paraffin 0.655 1 18936688 (1)
    nitric oxide 0 7 11133226 (5), 16293963 (1)
    progesterone 0 2 11474284 (1), 9761786 (1)
    serine 0 1 1899200 (1)



    Find genes that share compounds with MYH11           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYH11 gene (4 alternative transcripts): 
    NM_001040113.1  NM_001040114.1  NM_002474.2  NM_022844.2  

    Unigene Cluster for MYH11:

    Myosin, heavy chain 11, smooth muscle
    Hs.460109  [show with all ESTs]
    Unigene Representative Sequence: NM_001040113
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396324 ENST00000452625 ENST00000573908 ENST00000576790 ENST00000300036
    ENST00000576164 ENST00000571275(uc010bvh.3) ENST00000574119 ENST00000570785(uc002dea.1)
    ENST00000571910 ENST00000571505(uc002deb.3)
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    hsa-miR-30c hsa-miR-3606 hsa-miR-3607-5p hsa-miR-1914* hsa-miR-30d hsa-miR-30a hsa-miR-124 hsa-miR-629*
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      QuantiFast Probe-based Assays in human, mouse, rat MYH11

    Additional mRNA sequence: 

    AB020673.2 AF013570.1 AF020091.1 AK097036.1 AK125033.1 AK130413.1 AK308389.1 AK311080.1 
    AY520816.1 AY520817.1 BC031040.1 BC080545.1 BC101677.1 BC104906.1 BC143364.1 BX641087.1 
    CR749516.1 D10667.1 EU489063.1 S67238.1 S67240.1 X69292.1 

    Selected DOTS entries (see all 59):

    DT.92462085  DT.319908  DT.95194449  DT.92338250  DT.100886298  DT.95097778  DT.92462100  DT.95360288 
    DT.100886307  DT.92367239  DT.91955791  DT.87078354  DT.120692421  DT.100886312  DT.92462086  DT.40263399 
    DT.105335  DT.120692268  DT.100656720  DT.319913  DT.95077661  DT.95263528  DT.100886309  DT.102841981 

    Selected AceView cDNA sequences (see all 46):

    T64384 CB051599 AA403323 AA456649 AA490636 AA398387 AA400026 T64197 
    CD614958 H67531 BE836037 H67530 BF858934 BE769923 H45725 AW844110 
    AI810812 BQ367721 AW603577 BF372517 H26832 BF370633 AI224246 BQ066154 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH11 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19a · 19b ^ 20a ·
    SP1:                                                                                -                                                                           
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                                                            

    ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c ^ 29
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:        -                                                                                                   
    SP4:                                                                                                            
    SP5:        -                                                                                                   


    ECgene alternative splicing isoforms for MYH11

    (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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    MYH11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTGAAAAG
    MYH11 Expression
    About this image


    MYH11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Neo-Urinary Conduit
             Neuroectoderm-derived smooth muscle cells
             smooth muscle ; smooth muscle cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Cardiomyocyte-like cells
     
     Endothelium (Cardiovascular System)
             Vascular Smooth Muscle Cells Veins
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             VEGF/bFGF-induced embryoid bodies
    MYH11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460109

    UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749
    Tissue specificity: Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is
    mostly found in slowly contracting tonic muscles

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH11: 
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    (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)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MYH11 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh111 , 5 myosin, heavy polypeptide 11, smooth muscle1, 5 88.12(n)1
    96.5(a)1
      16 (9.71 cM)5
    178801  NM_001161775.11  NP_001155247.11 
     141945275 
    chicken
    (Gallus gallus)
    Aves MYH111 myosin, heavy chain 11, smooth muscle 78.17(n)
    89.78(a)
      396211  NM_205274.1  NP_990605.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYH116
    myosin, heavy chain 11, smooth muscle
    84(a)
    1 ↔ 1
    GL344644.1(40910-55008)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004906391 myosin-11-like 74.59(n)
    85.76(a)
      100490639  XM_002932205.2  XP_002932251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myh11a1 myosin, heavy polypeptide 11, smooth muscle a 74.54(n)
    80.9(a)
      554168  NM_001024448.1  NP_001019619.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta zip3 NOT muscle attachment myosin ATPase 60(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nmy-13 myosin 50(a)
    (best of 5)
      X(2944856-2952845)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO16
    Type II myosin heavy chain, required for wild-type...
    28(a)
    1 → many
    VIII(151666-157452) YHR023W


    ENSEMBL Gene Tree for MYH11 (if available)
    TreeFam Gene Tree for MYH11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH11 gene
    MYH82  MYH12  MYH22  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH11 using alignment to 4 protein entries:     MYH11_HUMAN (see all proteins) (see all similar genes):
    DKFZp686D10126    MYH9    MYH10    FLJ00279    MYH14    MYH2
    MYO15A    MYO9B    MYO3B    MYO1G    MYO9A    MYO1C
    MYO18A    MYO5C    MYH8    MYH13    MYH1    MYH4

    Find genes that share paralogs with MYH11           About GenesLikeMe



    (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 MYH11 (see all 4168)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0317354
    Aortic aneurysm, familial thoracic 4 (AAT4)4--see VAR_0317352 R Q mis40--------
    rs348398771,2
    C,Fnon-pathogenic115845736(+) AGGGCG/AGCCAT 4 -- int15Minor allele frequency- A:0.05NA CSA WA 243
    rs116481191,2
    C,F,Hnon-pathogenic115848144(+) CTCCTC/TTTCTC 8 K syn1 ese3 trp35Minor allele frequency- T:0.01NA EU 6073
    rs129317991,2
    C,F,Hnon-pathogenic115875200(+) TTGGGG/AATGGC 8 /I syn1 ese323Minor allele frequency- A:0.07NS EA NA CSA WA EU 9260
    rs2018319331,2
    Cpathogenic115854199(+) ACTGCA/G/TGCTCC 8 P L mis10--------
    rs1129905311,2
    C,Fprobable-non-pathogenic115854174(-) GGGGAG/ACGGGC 8 /E syn12Minor allele frequency- A:0.00NS NA 5622
    rs343212321,2
    Cprobable-pathogenic115847527(+) CAGCTT/GCTTCT 8 /K /Q mis11Minor allele frequency- G:0.01NA 78
    rs1939226301,2
    C,Funknown115854344(-) TCCTTC/TGCCAG 4 -- int11Minor allele frequency- T:0.01EU 1263
    rs1486823611,2
    Cunknown115872530(+) GGGAGG/TGGGGA 4 -- int10--------
    rs1890002291,2
    --15262748(+) GTACTA/GCCTGT 4 -- int10--------

    HapMap Linkage Disequilibrium report for MYH11 (15796992 - 15950890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MYH11 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714019CNV Deletion23290073
    esv2714020CNV Deletion23290073
    esv995232CNV Deletion20482838
    nsv435664CNV Deletion17901297
    esv2714015CNV Deletion23290073
    esv1985052CNV Deletion18987734
    esv2714017CNV Deletion23290073
    esv2714021CNV Deletion23290073
    esv1484275CNV Deletion17803354
    nsv1742CNV Insertion18451855

    Human Gene Mutation Database (HGMD): MYH11
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH11
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH11

    (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: 160745   
    OMIM disorders: 132900  
    UniProtKB/Swiss-Prot: MYH11_HUMAN, P35749
  • Note=A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype.
    Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal
    residues of CBF-beta (PEPB2) and the tail region of MYH11
  • Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]: A disease characterized by permanent dilation
    of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a
    characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which
    there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of
    basophilic ground substance. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for MYH11:    
    About MalaCards
    myh11-related thoracic aortic aneurysms and aortic dissections    aortic aneurysm, familial thoracic 4    myopericytoma    familial thoracic aortic aneurysm and dissection
    acromicric dysplasia    geleophysic dysplasia 2    acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)    geleophysic dysplasia
    acute myelomonocytic leukemia    intraductal papilloma    parachordoma    aortic aneurysm
    lymphoplasmacytic lymphoma    thoracic aortic aneurysms and aortic dissections    thoracic aortic aneurysm    polymorphous low-grade adenocarcinoma
    myeloid leukemia    acute myeloid leukemia    gastrointestinal stromal tumor

    2 diseases from the University of Copenhagen DISEASES database for MYH11:
    Leukemia     Eosinophilia

    Find genes that share disorders with MYH11           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MYH11 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma ductal 54.5 1 15762278 (1)
    aortic dissection 51.6 11 8653847 (3), 9324878 (2), 11015167 (2), 18413993 (2) (see all 6)
    dissection aortic acute 51.5 3 11015167 (2), 19124441 (1)
    aortic aneurysm thoracic 51 1 17956658 (1)
    papilloma intraductal 49.1 2 16861972 (1), 15762278 (1)
    eosinophilia 46.6 4 17452259 (1), 9713991 (1), 8779782 (1)
    carcinoma adenoid cystic 43.3 15 18084258 (3), 16810311 (2)
    adenoma pleomorphic 30.2 3 9388059 (1), 10458827 (1)
    leukemia 26.4 1 15754009 (1)
    carcinoma 22.9 4 9702855 (1), 12502930 (1), 10204102 (1), 18936688 (1)

    GeneTests: MYH11
    GeneReviews: MYH11
    Genetic Association Database (GAD): MYH11
    Human Genome Epidemiology (HuGE) Navigator: MYH11 (3 documents)

    Export disorders for MYH11 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 MYH11 gene, integrated from 10 sources (see all 231):
    (articles sorted by number of sources associating them with MYH11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12. (PubMed id 7684189)1, 2, 3, 9 Matsuoka R.... Takao A. (Am. J. Med. Genet. 1993)
    2. Somatic mutation analysis of MYH11 in breast and prostate cancer. (PubMed id 18796164)1, 4, 9 Alhopuro P....Aaltonen L.A. (BMC Cancer 2008)
    3. Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. (PubMed id 17956658)1, 4, 9 Zhu L....Jeunemaitre X. (Cardiol Young 2007)
    4. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (PubMed id 16444274)1, 2, 9 Zhu L.... Jeunemaitre X. (Nat. Genet. 2006)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    6. [Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]. (PubMed id 15968309)1, 4 Zhu Y.L....Liu J. (Beijing Da Xue Xue Bao 2005)
    7. (+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues. (PubMed id 16000639)1, 2 Leguillette R....Lauzon A.M. (Am. J. Physiol. 2005)
    8. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (Genomics 1999)
    9. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    10. Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue. (PubMed id 10906735)1, 9 Lin V.K....McConnell J.D. (Prostate 2000)

    (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: 4629 HGNC: 7569 AceView: MYH11.1 Ensembl:ENSG00000133392 euGenes: HUgn4629
    ECgene: MYH11 Kegg: 4629 H-InvDB: MYH11

    (According to HUGE)
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    HUGE: KIAA0866

    (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 MYH11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYH11 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH11[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 MYH11 gene:
    Search GeneIP for patents involving MYH11

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



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