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

MYH3 Gene

protein-coding   GIFtS: 63
GCID: GC17M010472

Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic

(Previous names: myosin, heavy polypeptide 3, skeletal muscle, embryonic)
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 3, Skeletal Muscle, Embryonic1 2     skeletal1
Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic1 2     HEMHC2
Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic2 3     MYHC-EMB2
SMHCE2 3     MYHSE12
Embryonic 11     Myosin, Skeletal, Heavy Chain, Embryonic 12
Heavy Chain1     myosin-32
Muscle Embryonic Myosin Heavy Chain 31     Muscle Embryonic Myosin Heavy Chain3
myosin1     Myosin Heavy Chain 33

External Ids:    HGNC: 75731   Entrez Gene: 46212   Ensembl: ENSG000001090637   OMIM: 1607205   UniProtKB: P110553   

Export aliases for MYH3 gene to outside databases

Previous GC identifers: GC17M010897 GC17M011646 GC17M010474 GC17M010732


(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 MYH3 Gene:
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis
of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of
nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a
myosin head-like domain. Mutations in this gene have been associated with two congenital contracture
(arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYH3 Gene: 
MYH3 (myosin, heavy chain 3, skeletal muscle, embryonic) is a protein-coding gene. Diseases associated with MYH3 include pleomorphic rhabdomyosarcoma, and freeman sheldon syndrome, and among its related super-pathways are Striated Muscle Contraction and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include microfilament motor activity and actin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055
Function: Muscle contraction

summary for MYH3 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 MYH3 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_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYH3 gene promoter:
         AP-2rep   C/EBPbeta   AML1a   Pax-2   MyoD   Pax-2a   Ik-3   RORalpha2   Pax-3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH3


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

MYH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010472:  view genomic region     (about GC identifiers)

Start:
10,531,843 bp from pter      End:
10,560,626 bp from pter
Size:
28,784 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: MYH3_HUMAN, P11055 (See protein sequence)
Recommended Name: Myosin-3  
Size: 1940 amino acids; 223905 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: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
Developmental stage: Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and
adult skeletal muscle
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-3
(MYO3)
Secondary accessions: Q15492

Explore the universe of human proteins at neXtProt for MYH3: NX_P11055

Explore proteomics data for MYH3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11055

  • MYH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH3 Protein Expression
    REFSEQ proteins: NP_002461.2  
    ENSEMBL proteins: 
     ENSP00000464317   ENSP00000226209  
    Reactome Protein details: P11055
    Human Recombinant Protein Products for MYH3: 
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    Novus Biologicals MYH3 Protein
    Novus Biologicals MYH3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH3 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016459myosin complex ----
    GO:0030016myofibril IEA--
    GO:0032982myosin filament IEA--
    GO:0043292contractile fiber ----

    MYH3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for MYH3 
    Cloud-Clone Corp. CLIAs for MYH3


    (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

    5/7 InterPro protein domains (see all 7):
     IPR027401 Myosin-like_IQ_dom
     IPR015650 Myosin_1/23/4/7/8/13/15
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry P11055

    ProtoNet protein and cluster: P11055

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


    UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055
    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


    MYH3 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: MYH3_HUMAN, P11055
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH3:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 3,200kDa,skeletal
    muscle,embryonic

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity NAS1691980
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    MYH3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYH3:
     High actin ratio cells  Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH3 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH3:
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH3


    (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 MYH3 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Cell 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
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH3
        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 MYH3 (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 MYH3 (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

    1 BioSystems Pathway for MYH3
        Striated Muscle Contraction

    2        Reactome Pathways for MYH3
        Muscle contraction
    Striated Muscle Contraction


    2         Kegg Pathways  (Kegg details for MYH3):
        Tight junction
    Viral myocarditis


    MYH3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYH3

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

    5/105 Interacting proteins for MYH3 (P110552, 3 ENSP000002262094) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DESP176612, ENSP000003630714MINT-7899812 STRING: ENSP00000363071
    MYL3P085902, ENSP000002923274MINT-7899812 STRING: ENSP00000292327
    TPM1P094932, ENSP000002679964MINT-7899812 STRING: ENSP00000267996
    ACTG1P632612, ENSP000003315144MINT-7899812 STRING: ENSP00000331514
    MYH13Q9UKX32, ENSP000002521724MINT-7899812 STRING: ENSP00000252172
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517muscle organ development TAS2771643
    GO:0030048actin filament-based movement NAS1691980
    GO:0030049muscle filament sliding TAS--

    MYH3 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYH3 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]

    Search CenterWatch for drugs/clinical trials and news about MYH3

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYH3 gene: 
    NM_002470.3  

    Unigene Cluster for MYH3:

    Myosin, heavy chain 3, skeletal muscle, embryonic
    Hs.440895  [show with all ESTs]
    Unigene Representative Sequence: NM_002470
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583535(uc002gmq.2) ENST00000577963 ENST00000579928 ENST00000579489
    ENST00000582580 ENST00000226209
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH3:
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    Additional mRNA sequence: 

    AY517555.1 X13100.1 X13988.1 X15696.1 X51593.1 

    12 DOTS entries:

    DT.86821382  DT.455514  DT.95267116  DT.121011697  DT.40233316  DT.100020750  DT.100739548  DT.121011604 
    DT.92002345  DT.121011618  DT.95333920  DT.99935319 

    24/68 AceView cDNA sequences (see all 68):

    BM874465 AA010874 BM889521 BM666179 AA773676 BQ956249 NM_002470 BX500019 
    CB857848 AA913617 AA778044 X13988 AI266195 X51593 AI243553 AI097012 
    AA332915 AI217390 AA332780 AI204351 X13100 X15696 BX490094 BM717487 

    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™, 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

    MYH3 expression in normal human tissues (normalized intensities)      MYH3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATAAACTT
    MYH3 Expression
    About this image


    MYH3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 12 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Cardiomyocytes Left Ventricle
             heart muscle ; myocytes   
             heart/ventricle   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See MYH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH3

    SOURCE GeneReport for Unigene cluster: Hs.440895
        SABiosciences Custom PCR Arrays for MYH3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH3

    (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 chordates.

    Orthologs for MYH3 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh31 , 5 myosin, heavy polypeptide 3, skeletal muscle, embryonic1, 5 89.67(n)1
    98.2(a)1
      11 (40.59 cM)5
    178831  NM_001099635.11  NP_001093105.11 
     670783005 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120382 Transcribed sequence with moderate similarity to protein more 80.28(n)    BX702799.1 


    ENSEMBL Gene Tree for MYH3 (if available)
    TreeFam Gene Tree for MYH3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYH3 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  
    MYH7B2  MYH42  MYH152  MYH62  MYH72  
    18/27 SIMAP similar genes for MYH3 using alignment to 1 protein entry:     MYH3_HUMAN(see all similar genes):
    MYH4    MYH8    MYH13    MYH2    MYH7    MYH6
    MYH1    alpha-MHC    MYH15    MYH7B    MYH16    MYH9
    MYO10    MYH11    MYH10    MYH14    MYO5B    MYO5C

    MYH3 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

    10/1088 SNPs in MYH3 are shown (see all 1088)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0303704
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0303702 T I mis40--------
    VAR_0303834
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0303832 D A mis40--------
    VAR_0303764
    Arthrogryposis, distal, 2A (DA2A)4--see VAR_0303762 Y S mis40--------
    VAR_0303814
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0303812 K E mis40--------
    VAR_0303744
    Arthrogryposis, distal, 2A (DA2A)4--see VAR_0303742 E G mis40--------
    VAR_0303754
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0303752 D Y mis40--------
    VAR_0303804
    Arthrogryposis, distal, 2A (DA2A)4--see VAR_0303802 V D mis40--------
    VAR_0303774
    Arthrogryposis, distal, 2A (DA2A)4--see VAR_0303772 R C mis40--------
    VAR_0303784
    Arthrogryposis, distal, 2A (DA2A)4--see VAR_0303782 R H mis40--------
    VAR_0303724
    Arthrogryposis, distal, 2B (DA2B)4--see VAR_0303722 S C mis40--------

    HapMap Linkage Disequilibrium report for MYH3 (10531843 - 10560626 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MYH3: --

    Human Gene Mutation Database (HGMD): MYH3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH3
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH3

    (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: 160720   
    OMIM disorders: 193700  601680  
    UniProtKB/Swiss-Prot: MYH3_HUMAN, P11055
  • Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet,
    oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered
    lips, and an H-shaped dimple of the chin. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a
    distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for MYH3:    About MalaCards
    pleomorphic rhabdomyosarcoma    freeman sheldon syndrome    arthrogryposis multiplex congenita, distal type 2    myh3-related arthrogryposis multiplex congenita, distal, type 2b
    arthrogryposis distal type 2b    arthrogryposis multiplex congenita distal    congenital contractures    distal arthrogryposis
    distal muscular dystrophy    dysphagia    blepharophimosis    clubfoot
    ophthalmoplegia    rhabdomyosarcoma    myocarditis    esophageal squamous cell carcinoma
    muscular dystrophy    myopathy    esophagitis    squamous cell carcinoma

    4 diseases from the University of Copenhagen DISEASES database for MYH3:
    Distal arthrogryposis     Clubfoot     Distal muscular dystrophy     Ophthalmoplegia

    MYH3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MYH3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prolapse 42.7 2 16579921 (1), 12861146 (1)

    Genetic Association Database (GAD): MYH3
    Human Genome Epidemiology (HuGE) Navigator: MYH3 (6 documents)

    Export disorders for MYH3 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 MYH3 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with MYH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. (PubMed id 2726495)1, 2, 3 Eller M.S.... Sarkar S. (1989)
    2. Evaluation of embryonic and perinatal myosin gene mut ations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)1, 4 Shyy W....Morcuende J.A. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PubMed id 19142688)1, 4 Gurnett C.A....Dobbs M.B. (2009)
    5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (2008)
    6. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome. (PubMed id 16642020)1, 2 Toydemir R.M....Bamshad M.J. (2006)
    7. Identification of three developmentally controlled isoforms of human myosin heavy chains. (PubMed id 1691980)1, 2 Bober E....Arnold H.H. (1990)
    8. Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene. (PubMed id 2771643)1, 2 Karsch-Mizrachi I.... Leinwand L.A. (1989)
    9. Human embryonic myosin heavy chain cDNA. Interspecies sequence conservation of the myosin rod, chromosomal locus and isoform specific transcription of the gene. (PubMed id 2806546)1, 2 Eller M.S.... Sarkar S. (1989)
    10. Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. (PubMed id 16579921)1, 9 Hundley A.F....Visco A.G. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4621 HGNC: 7573 AceView: MYH3 Ensembl:ENSG00000109063 euGenes: HUgn4621
    ECgene: MYH3 Kegg: 4621 H-InvDB: MYH3

    (According to HUGE)
    About This Section
      --

    (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 MYH3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYH3 gene:
    Search GeneIP for patents involving MYH3

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



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