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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYH11 Gene

protein-coding   GIFtS: 71
GCID: GC16M015704

Myosin, Heavy Chain 11, Smooth Muscle

(Previous names: myosin, heavy polypeptide 11, smooth muscle)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 myopericytoma, and myh11-related thoracic aortic aneurysms and aortic dissections, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Antioxidant Action of Vitamin-C. GO annotations related to this gene include motor activity and actin 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYH11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to
stage IV. Thick filaments of the myofibrils
Sequence caution: Sequence=BAA74889.2; Type=Erroneous initiation;
Secondary accessions: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35749

  • MYH11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH11 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001035202.1  NP_001035203.1  NP_002465.1  NP_074035.1  

    ENSEMBL proteins: 
     ENSP00000379616   ENSP00000407821   ENSP00000458731   ENSP00000300036   ENSP00000345136  
    Reactome Protein details: P35749
    Human Recombinant Protein Products for MYH11: 
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    Cloud-Clone Corp. Proteins for MYH11 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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 ----

    MYH11 for ontologies           About GeneDecksing



    MYH11 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYHII: Myosins / Myosin superfamily : Class II

    5/6 InterPro protein domains (see all 6):
     IPR027401 Myosin-like_IQ_dom
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail

    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


    MYH11 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003779actin binding ----
    GO:0005515protein binding IPI19328794
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    MYH11 for ontologies           About GeneDecksing


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

    MYH11 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH11 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH11 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH11 

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    SwitchGear 3'UTR luciferase reporter plasmidMYH11 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYH11 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    2PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    3Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    4Sema4D in semaphorin signaling
    Sema4D in semaphorin signaling0.89
    Semaphorin interactions0.41
    Sema4D induced cell migration and growth-cone collapse0.89
    5Axon guidance
    Axon guidance0.69
    Developmental Biology0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH11
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils
    Development MAG-dependent inhibition of neurite outgrowth

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/7        Reactome Pathways for MYH11 (see all 7)
        Developmental Biology
    Sema4D induced cell migration and growth-cone collapse
    Semaphorin interactions
    Smooth Muscle Contraction
    Muscle contraction


    3         Kegg Pathways  (Kegg details for MYH11):
        Vascular smooth muscle contraction
    Tight junction
    Viral myocarditis


    MYH11 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYH11

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

    5/132 Interacting proteins for MYH11 (P357491, 2, 3 ENSP000003796164) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    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): 5/7 biological process terms (GO ID links to tree view) (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--

    MYH11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYH11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about MYH11

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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
    12 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) ENST00000338282(uc002ddv.3 uc002ddw.3 uc002ddx.3 uc002ddy.3 uc010bvg.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/59 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 

    24/46 AceView cDNA sequences (see all 46):

    CB051599 AA403323 T64384 AA456649 AA490636 AA400026 AA398387 T64197 
    CD614958 H67531 BE836037 BE769923 H45725 H67530 BF858934 AI335421 
    BE836005 T64139 AI810812 AW844110 BQ066154 BQ367721 AI254477 BF370633 

    GeneLoc Exon Structure

    5/16 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYH11 expression in normal human tissues (normalized intensities)      MYH11 embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 10 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Neo-Urinary Conduit
             Smooth muscle-like cells ( Isolation of vascular cells from embryoid bodies (EBs)...
             smooth muscle ; smooth muscle cells   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Veins
             mouse/organ system/cardiovascular system/arterial system   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             Uterus Corpus   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
             Trachea   

    See MYH11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH11

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MYH11: 
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              Terminal Differentiation Markers in human mouse rat

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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

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

    Orthologs for MYH11 gene from 7/18 species (see all 18)    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 78.18(n)
    89.78(a)
      396211  NM_205274.1  NP_990605.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    MYH116
    Uncharacterized protein
    86(a)
    85(a)
    possible ortholog
    1 ↔ 1
    GL345001.1(223-13756)
    GL344644.1(40910-55008)
    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 MYO11 Myo1p 43(n)
    33.3(a)
      856418   NP_011888.1 


    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)
    About This Section
    Paralogs for MYH11 gene
    MYH82  MYH12  MYH22  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/40 SIMAP similar genes for MYH11 using alignment to 5 protein entries:     MYH11_HUMAN (see all proteins) (see all similar genes):
    DKFZp686D10126    MYH9    MYH10    FLJ00279    MYH14    MYH2
    MYO15A    MYO9B    MYO3B    MYO1G    MYO9A    MYO1C
    MYO18A    MYH8    MYO5C    MYH13    MYH1    MYH4

    MYH11 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4168 SNPs in MYH11 are shown (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
    Familial aortic aneurysm 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) 10/21 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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
  • Familial aortic aneurysm 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

  • 20/55 diseases for MYH11 (see all 55):    About MalaCards
    myopericytoma    myh11-related thoracic aortic aneurysms and aortic dissections    acute myeloid leukemia with abnormal bone marrow eosinophils inv or t    aortic aneurysm, familial thoracic 4
    familial thoracic aortic aneurysm and dissection    intraductal papilloma    lymphoplasmacytic lymphoma    thoracic aortic aneurysms and aortic dissections
    parachordoma    thoracic aortic aneurysm    aortic aneurysm    polymorphous low-grade adenocarcinoma
    myeloid sarcoma    acute myelomonocytic leukemia    acute myeloid leukemia    myxoid chondrosarcoma
    myeloid leukemia    extraskeletal myxoid chondrosarcoma    papilloma    spindle cell carcinoma

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

    MYH11 for disorders           About GeneDecksing

    10/24 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)
    About This Section

    PubMed articles for MYH11 gene, integrated from 9 sources (see all 227):
    (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. (1993)
    2. Somatic mutation analysis of MYH11 in breast and prostate cancer. (PubMed id 18796164)1, 4, 9 Alhopuro P....Aaltonen L.A. (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. (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. (2006)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (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. (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. (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. (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. (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. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4629 HGNC: 7569 AceView: MYH11.1 Ensembl:ENSG00000133392 euGenes: HUgn4629
    ECgene: MYH11 Kegg: 4629 H-InvDB: MYH11

    (According to HUGE)
    About This Section
    HUGE: KIAA0866

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/MYH11

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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