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

MYH2 Gene

protein-coding   GIFtS: 67
GCID: GC17M010427

Myosin, Heavy Chain 2, Skeletal Muscle, Adult

(Previous names: myosin, heavy polypeptide 2, skeletal muscle, adult)
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 2, Skeletal Muscle, Adult1 2     MYHas82
Myosin, Heavy Polypeptide 2, Skeletal Muscle, Adult1 2     MyHC-2A2
Myosin Heavy Chain 22 3     Fast 2a Myosin Heavy Chain2
Myosin Heavy Chain 2a2 3     myosin-22
Myosin Heavy Chain IIa2 3     Type IIA Myosin Heavy Chain2
Myosin Heavy Chain, Skeletal Muscle, Adult 22 3     MyHC-2a3
MYHSA22 3     EC 2.3.28
MyHC-IIa2 3     EC 4.2.1.338
MYH2A2     

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

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 bone fracture, 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 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 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 MYH2 gene promoter:
         GATA-3   STAT2   c-Myb   GATA-1   GATA-2   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKX2

  • 2 DME Specific Peptides for MYH2 (Q9UKX2)
     QAEAEGL  LTKAKIK 

    MYH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001093582.1  NP_060004.3  

    ENSEMBL proteins: 
     ENSP00000433944   ENSP00000245503   ENSP00000463668   ENSP00000399348   ENSP00000416072  
     ENSP00000380367  
    Reactome Protein details: Q9UKX2
    Human Recombinant Protein Products for MYH2: 
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    Cloud-Clone Corp. Proteins for MYH2 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

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

    MYH2 for ontologies           About GeneDecksing



    MYH2 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

    5/7 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 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,
    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: 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): 5/8 molecular function terms (GO ID links to tree view) (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 NAS--
    GO:0005515protein binding IPI17823310
         
    MYH2 for ontologies           About GeneDecksing


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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH2 
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    SwitchGear 3'UTR luciferase reporter plasmidMYH2 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 MYH2 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
    4Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    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 MYH2
        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 MYH2 (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 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

    5/6        Reactome Pathways for MYH2 (see all 6)
        Membrane Trafficking
    Regulation of actin dynamics for phagocytic cup formation
    Translocation of GLUT4 to the Plasma Membrane
    Fcgamma receptor (FCGR) dependent phagocytosis
    Immune System


    2         Kegg Pathways  (Kegg details for MYH2):
        Tight junction
    Viral myocarditis


    MYH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYH2

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

    5/105 Interacting proteins for MYH2 (Q9UKX22, 3 ENSP000002455034) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    S100A4P264473, ENSP000003462944I2D: score=2 STRING: ENSP00000346294
    OBSCNQ5VST93, ENSP000004094934I2D: score=1 STRING: ENSP00000409493
    PTK2BQ142893, ENSP000003328164I2D: score=1 STRING: ENSP00000332816
    MYH13Q9UKX32, ENSP000002521724MINT-7899812 STRING: ENSP00000252172
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair IEA--
    GO:0006412translation ----
    GO:0006936muscle contraction TAS10388558
    GO:0014823response to activity IEA--
    GO:0016192vesicle-mediated transport ----

    MYH2 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

    MYH2 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about MYH2

    (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 MYH2 gene (2 alternative transcripts): 
    NM_001100112.1  NM_017534.5  

    Unigene Cluster for MYH2:

    Myosin, heavy chain 2, skeletal muscle, adult
    Hs.667534  [show with all ESTs]
    Unigene Representative Sequence: NM_017534
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532183 ENST00000245503(uc002gmp.4 uc010coj.3) ENST00000578017
    ENST00000420805 ENST00000431502 ENST00000397183(uc010coi.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: 

    AF111784.1 AK299440.1 AK300702.1 AK308102.1 BC093082.1 BC126409.1 BX510904.2 S73840.1 
    Z32858.1 

    15 DOTS entries:

    DT.450952  DT.91651088  DT.87010282  DT.95134925  DT.121011709  DT.95333920  DT.100797147  DT.102833389 
    DT.92452462  DT.95319948  DT.95335450  DT.121011605  DT.121011611  DT.121011677  DT.91645919 

    24/360 AceView cDNA sequences (see all 360):

    F32753 BU738138 AF111784 CF553036 AL596540 F34834 F26552 F24083 
    F18149 AA214068 BC022376 F27373 F18911 BX500391 F28725 CF552962 
    F28298 F18618 AA196858 F26883 F29771 F22765 AL042515 F36130 

    GeneLoc Exon Structure

    5/13 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™, 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

    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 
     5/5 selected tissues (see all 5) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Multinuclear Myocytes Mandibular Arch Muscles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Oral Cavity (Gastrointestinal Tract)
             Tongue   
     
     Thyroid (Endocrine System)
     
     Larynx (Respiratory System)

    See MYH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH2

    SOURCE GeneReport for Unigene cluster: Hs.667534
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MYH2 gene from 4/12 species (see all 12)    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 89.95(n)1
    96.75(a)1
      11 (40.59 cM)5
    178821  NM_001039545.21  NP_001034634.21 
     671710665 
    chicken
    (Gallus gallus)
    Aves MYH36
    MYH26
    (see all 7)
    myosin-3
    (see all 7)
    91(a)
    91(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    18(584154-601425)
    18(473713-638720)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    90(a)
    88(a)
    many ↔ many
    many ↔ many
    2(108951248-109016986)
    2(109022921-109052169)
    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)
    About This Section
    Paralogs for MYH2 gene
    MYH82  MYH12  MYH112  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    18/39 SIMAP similar genes for MYH2 using alignment to 5 protein entries:     MYH2_HUMAN (see all proteins) (see all similar genes):
    MYH8    MYH4    MYH1    MYH13    MYH3    MYH6
    MYH7    MYH7B    alpha-MHC    MYH15    MYH16    MYH11
    MYH10    MYH9    MYH14    MYO1C    MYO19    MYO5C

    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) 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

    10/904 SNPs in MYH2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH2
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH2

    (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: 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

  • 15 diseases for MYH2:    About MalaCards
    inclusion body myopathy 3    bone fracture    distal arthrogryposis    myopathy
    ophthalmoplegia    clubfoot    inclusion body myositis    hypothyroidism
    myocarditis    myositis    kaposi's sarcoma    multiple sclerosis
    liver disease    alcoholism    sarcoma

    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)
    About This Section

    PubMed articles for MYH2 gene, integrated from 9 sources (see all 80):
    (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. (1994)
    2. Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). (PubMed id 15741996)1, 2, 9 Tajsharghi H.... Oldfors A. (2005)
    3. 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. (2000)
    4. 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. (1999)
    5. 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)
    6. 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. (2007)
    7. 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. (2004)
    8. Characterization of human skeletal muscle fibres according to the myosin heavy chains they express. (PubMed id 7751403)1, 2 Ennion S.... Goldspink G. (1995)
    9. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. (PubMed id 11889243)1, 9 Tajsharghi H....Oldfors A. (2002)
    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. (2010)

    (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: 4620 HGNC: 7572 AceView: MYH1andMYH4andMYH2 Ensembl:ENSG00000125414 euGenes: HUgn4620
    ECgene: MYH2 Kegg: 4620 H-InvDB: MYH2

    (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 MYH2 Pharmacogenomics, SNPs, Pathways

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

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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