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MYH2 Gene

protein-coding   GIFtS: 64
GCID: GC17M010427

Myosin, Heavy Chain 2, Skeletal Muscle, Adult

(Previous names: myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion...)
(Previous symbol: IBM3)
Microbiology & Infectious Diseases Congress
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(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 2, Skeletal Muscle, Adult1 2     MYH2A2
IBM31 2     MYHas82
Inclusion Body Myopathy 3, Autosomal Dominant1 2     MyHC-2A2
Myosin, Heavy Polypeptide 2, Skeletal Muscle, Adult1 2     Fast 2a Myosin Heavy Chain2
Myosin Heavy Chain 22 3     myosin-22
Myosin Heavy Chain 2a2 3     Type IIA Myosin Heavy Chain2
Myosin Heavy Chain IIa2 3     MyHC-2a3
Myosin Heavy Chain, Skeletal Muscle, Adult 22 3     EC 2.3.28
MYHSA22 3     EC 4.2.1.338
MyHC-IIa2 3     

External Ids:    HGNC: 75721   Entrez Gene: 46202   Ensembl: ENSG000001254147   OMIM: 1607405   UniProtKB: Q9UKX23   

Export aliases for MYH2 gene to outside databases

Previous GC identifers: GC17M010762 GC17M011539 GC17M010367 GC17M010625 GC17M010365 GC17M010368 GC17M010347


(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 MYH2 Gene:
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells.
Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light
chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal
muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in
this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same
protein, have been identified. (provided by RefSeq, Sep 2009)

GeneCards Summary for MYH2 Gene:
MYH2 (myosin, heavy chain 2, skeletal muscle, adult) is a protein-coding gene. Diseases associated with MYH2 include inclusion body myopathy 3, and childhood-onset autosomal recessive myopathy with external ophthalmoplegia. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2
Function: Muscle contraction. Required for cytoskeleton organization (By similarity)

summary for MYH2 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 MYH2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the MYH2 gene promoter:
         GATA-3   STAT2   c-Myb   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH2 promoter sequence
   Search Chromatin IP Primers for MYH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH2


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

MYH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010427:  view genomic region     (about GC identifiers)

Start:
10,424,465 bp from pter      End:
10,453,274 bp from pter
Size:
28,810 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2 (See protein sequence)
Recommended Name: Myosin-2  
Size: 1941 amino acids; 223044 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). Interacts with GCSAM
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2
(MYO2)
Secondary accessions: A0AVL4 Q14322 Q16229 Q86T56

Explore the universe of human proteins at neXtProt for MYH2: NX_Q9UKX2

Explore proteomics data for MYH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for MYH2 (Q9UKX2)
     QAEAEGL  LTKAKIK 


    See MYH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001093582.1  NP_060004.3  

    ENSEMBL proteins: 
     ENSP00000433944   ENSP00000245503   ENSP00000463668   ENSP00000399348   ENSP00000380367  
    Reactome Protein details: Q9UKX2

    MYH2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH2

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    Abcam antibodies for MYH2 (Q9Y623, P11055, P05976, P60660, P12882, Q9UKX2)
    Cloud-Clone Corp. Antibodies for MYH2
    ThermoFisher Antibodies for MYH2
    LSBio Antibodies in human, mouse, rat for MYH2

    MYH2 Assay Products:

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    Cloud-Clone Corp. ELISAs for MYH2
    Cloud-Clone Corp. CLIAs for MYH2


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

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

    Graphical View of Domain Structure for InterPro Entry Q9UKX2

    ProtoNet protein and cluster: Q9UKX2

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


    UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2
    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


    MYH2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: MYH2_HUMAN, Q9UKX2
    Function: Muscle contraction. Required for cytoskeleton organization (By similarity)

         Genatlas biochemistry entry for MYH2:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 2,skeletal
    muscle,adult

         Enzyme Numbers (IUBMB): EC 2.3.22 EC 4.2.1.332

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity TAS10388558
    GO:0003735structural constituent of ribosome ----
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI17823310
         
    MYH2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH2

    miRNA
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    miRTarBase miRNAs that target MYH2:
    hsa-mir-23a-3p (MIRT006908), hsa-mir-92a-3p (MIRT048977)

    Block miRNA regulation of human, mouse, rat MYH2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate MYH2:
    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidMYH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYH2

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    GenScript: all cDNA clones in your preferred vector (see all 2): MYH2 (NM_017534)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH2


    (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
    MYH2_HUMAN, Q9UKX2: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4
    golgi apparatus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005730nucleolus ----
    GO:0005794Golgi apparatus IEA--
    GO:0005826actomyosin contractile ring IEA--

    MYH2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYH2 About   (see all 13)                                                                                              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
    4Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH2 (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 MYH2 (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 MYH2
        amb2 Integrin signaling

    2 Reactome Pathways for MYH2
        Regulation of actin dynamics for phagocytic cup formation
    Translocation of GLUT4 to the plasma membrane


    1 Kegg Pathway  (Kegg details for MYH2):
        Tight junction


    MYH2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MYH2: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MYH2

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

    Selected Interacting proteins for MYH2 (Q9UKX22, 3 ENSP000002455034) via UniProtKB, MINT, STRING, and/or I2D (see all 206)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    S100A4P264473, ENSP000003462944I2D: score=2 STRING: ENSP00000346294
    UBAC1Q9BSL13, ENSP000003608214I2D: score=2 STRING: ENSP00000360821
    USP15Q9Y4E83, ENSP000002581234I2D: score=2 STRING: ENSP00000258123
    DGKDQ167603, ENSP000002640574I2D: score=1 STRING: ENSP00000264057
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair IEA--
    GO:0006412translation ----
    GO:0006936muscle contraction TAS10388558
    GO:0008152metabolic process TAS10388558
    GO:0014823response to activity IEA--

    MYH2 for ontologies           About GeneDecksing



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

    Compounds for MYH2 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 Novoseek inferred chemical compound relationships for MYH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 70.4 1 15681228 (1)
    calcium 0 7 12235157 (5), 12756252 (1)



    MYH2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MYH2 gene (2 alternative transcripts): 
    NM_001100112.1  NM_017534.5  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532183 ENST00000245503(uc002gmp.4 uc010coj.3) ENST00000578017
    ENST00000420805 ENST00000397183(uc010coi.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    5 qRT-PCR Assays for microRNAs that regulate MYH2:
    hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-23c hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidMYH2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MYH2
      QuantiFast Probe-based Assays in human, mouse, rat MYH2

    Selected AceView cDNA sequences (see all 360):

    F29771 F17405 AA196858 AA192839 F17086 BX500391 F18149 F25815 
    F34834 AA192637 F32013 AA197171 F36197 F22765 F32753 AA180982 
    F26983 AA194327 CF553036 F25925 BU738138 BM716583 F26552 F27834 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYH2 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for MYH2

    (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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    MYH2 expression in normal human tissues (normalized intensities)      MYH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATGACTGA
    MYH2 Expression
    About this image


    MYH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             Skeletal myocytes
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Thyroid (Endocrine System)
     
     Larynx (Respiratory System)
    MYH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH2 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Array including MYH2: 
              Skeletal Muscle: Myogenesis & Myopathy 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYH2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh21 , 5 myosin, heavy polypeptide 2, skeletal muscle, adult1, 5 89.78(n)1
    96.6(a)1
      11 (40.59 cM)5
    178821  NM_001039545.21  NP_001034634.21 
     671710665 
    chicken
    (Gallus gallus)
    Aves MYH1B1 myosin, heavy chain 1B, skeletal muscle (similar to more 83.43(n)
    90.82(a)
      374069  NM_204228.1  NP_989559.1 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.42952 O.mykiss mRNA for myosin heavy chain 78.57(n)    Z48794.1 


    ENSEMBL Gene Tree for MYH2 (if available)
    TreeFam Gene Tree for MYH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH2 gene
    MYH82  MYH12  MYH112  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH2 using alignment to 4 protein entries:     MYH2_HUMAN (see all proteins) (see all similar genes):
    MYH8    MYH4    MYH1    MYH13    MYH3    MYH6
    MYH7B    MYH7    alpha-MHC    MYH15    MYH16    MYH11
    MYH10    MYH9    MYH14    MYO1C    MYO5C    MYO19

    MYH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYH2 (see all 904)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0326304
    Inclusion body myopathy 3 (IBM3)4--see VAR_0326302 E K mis40--------
    rs3740603781,2
    C--10333445(+) CTGAT-/AT    
       TT
    /TT
    TTTTT
    2 -- int10--------
    rs2007652031,2
    C--10334919(-) TTTTTC/TATCTG 2 -- int10--------
    rs344296601,2
    C--10341236(+) AAAAA-/AGATCA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1167473511,2
    C,F--10349128(+) AGGAAA/TTATTT 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1411801291,2
    C--10349175(+) AAATG-/ATATA 
     TATATAT
    ATATA
    2 -- int10--------
    rs713657751,2
    C--10349850(+) CTGCT-/AAAAAA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs359557561,2
    C--10353097(+) CCAAT-/ATTCCT 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1840671041,2
    C--10413814(+) CTACTA/GTGGGC 2 -- ds50010--------
    rs1888103741,2
    --10413818(+) TGTGGA/GCATAT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for MYH2 (10424465 - 10453274 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907681CNV Loss21882294
    nsv907679CNV Gain21882294
    nsv907673CNV Gain21882294
    nsv520771CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): MYH2
    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 160740   
    OMIM disorders: 605637  
    UniProtKB/Swiss-Prot: MYH2_HUMAN, Q9UKX2
  • Inclusion body myopathy 3 (IBM3) [MIM:605637]: Hereditary inclusion body myopathies constitute a group of
    neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle
    pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body
    myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed
    vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently
    were abnormal, whereas other fiber types appeared normal. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 18 diseases for MYH2:    About MalaCards
    inclusion body myopathy 3    childhood-onset autosomal recessive myopathy with external ophthalmoplegia    bone fracture    distal arthrogryposis
    myopathy    clubfoot    inclusion body myositis    ophthalmoplegia
    myositis    myocarditis    hypothyroidism    kaposi's sarcoma
    liver disease    sarcoma    neuropathy    multiple sclerosis
    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for MYH2:
    Distal arthrogryposis     Ophthalmoplegia     Myopathy

    MYH2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MYH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inclusion body myopathy 70.6 3 11889243 (1)
    myopathy 54.4 7 15741996 (2), 14991352 (1), 11889243 (1)
    atrophy 36.6 1 16672834 (1)

    Genetic Association Database (GAD): MYH2
    Human Genome Epidemiology (HuGE) Navigator: MYH2 (1 document)

    Export disorders for MYH2 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 MYH2 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with MYH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. (PubMed id 7545970)1, 2, 3 Smerdu V....Schiaffino S. (Am. J. Physiol. 1994)
    2. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. (PubMed id 11889243)1, 3, 9 Tajsharghi H....Oldfors A. (Neurology 2002)
    3. Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). (PubMed id 15741996)1, 2, 9 Tajsharghi H.... Oldfors A. (Eur. J. Hum. Genet. 2005)
    4. Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. (PubMed id 11114175)1, 2, 9 Martinsson T.... Wahlstroem J. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    5. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. (PubMed id 10388558)1, 2, 9 Weiss A.... Leinwand L.A. (J. Mol. Biol. 1999)
    6. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)1, 4 Shyy W....Morcuende J.A. (J Pediatr Orthop 2010)
    7. HGAL, a lymphoma prognostic biomarker, interacts with the cytoskeleton and mediates the effects of IL-6 on cell migration. (PubMed id 17823310)1, 2 Lu X....Lossos I.S. (Blood 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Characterization of human skeletal muscle fibres according to the myosin heavy chains they express. (PubMed id 7751403)1, 2 Ennion S.... Goldspink G. (J. Muscle Res. Cell Motil. 1995)
    10. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. (PubMed id 20418530)1, 9 Tajsharghi H....Udd B. (Brain 2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4620 HGNC: 7572 AceView: MYH1andMYH4andMYH2 Ensembl:ENSG00000125414 euGenes: HUgn4620
    ECgene: MYH2 Kegg: 4620 H-InvDB: MYH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH2 gene:
    Search GeneIP for patents involving MYH2

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



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