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MYH8 Gene

protein-coding   GIFtS: 55
GCID: GC17M010293

Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal

(Previous names: myosin, heavy polypeptide 8, skeletal muscle, perinatal)
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)
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Aliases
Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal1 2     Fetal-Myosin Heavy Chain2
Myosin, Heavy Polypeptide 8, Skeletal Muscle, Perinatal1 2     gtMHC-F2
Myosin Heavy Chain 82 3     myHC-perinatal2
Myosin Heavy Chain, Skeletal Muscle, Perinatal2 3     myosin-82
MyHC-peri2     MyHC-perinatal3
MyHC-pn2     

External Ids:    HGNC: 75781   Entrez Gene: 46262   Ensembl: ENSG000001330207   OMIM: 1607415   UniProtKB: P135353   

Export aliases for MYH8 gene to outside databases

Previous GC identifers: GC17M010659 GC17M011408 GC17M010236 GC17M010494 GC17M010234


(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 MYH8 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 predominantly expressed in fetal skeletal muscle. This gene is found in a
cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in
trismus-pseudocamptodactyly syndrome. (provided by RefSeq, Sep 2009)

GeneCards Summary for MYH8 Gene:
MYH8 (myosin, heavy chain 8, skeletal muscle, perinatal) is a protein-coding gene. Diseases associated with MYH8 include melanotic neurilemmoma, and neurilemmoma. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is MYH1.

UniProtKB/Swiss-Prot: MYH8_HUMAN, P13535
Function: Muscle contraction

summary for MYH8 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 MYH8 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 MYH8 gene promoter:
         Max1   NF-1   NF-1/L   XBP-1   LCR-F1   GATA-1   CREB   SRY   deltaCREB   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH8 promoter sequence
   Search Chromatin IP Primers for MYH8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH8


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

MYH8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH8 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010293:  view genomic region     (about GC identifiers)

Start:
10,293,639 bp from pter      End:
10,325,267 bp from pter
Size:
31,629 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: MYH8_HUMAN, P13535 (See protein sequence)
Recommended Name: Myosin-8  
Size: 1937 amino acids; 222763 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)
Secondary accessions: Q14910

Explore the universe of human proteins at neXtProt for MYH8: NX_P13535

Explore proteomics data for MYH8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYH8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002463.2  
    ENSEMBL proteins: 
     ENSP00000384330  
    Reactome Protein details: P13535

    MYH8 Human Recombinant Protein Products:

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    MYH8 Assay Products:

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    (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 P13535

    ProtoNet protein and cluster: P13535

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


    UniProtKB/Swiss-Prot: MYH8_HUMAN, P13535
    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


    MYH8 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: MYH8_HUMAN, P13535
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH8:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 8,skeletal
    muscle,perinatal

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IMP17041932
    GO:0003774motor activity ----
    GO:0003779actin binding ----
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    MYH8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYH8:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH8

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate MYH8:
    hsa-miR-2113
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYH8

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    GenScript: all cDNA clones in your preferred vector: MYH8 (NM_002472)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH8


    (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
    MYH8_HUMAN, P13535: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex NAS2715179

    MYH8 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 MYH8 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Cell 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
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    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 MYH8 (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 MYH8 (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 MYH8
        Striated Muscle Contraction

    2 Reactome Pathways for MYH8
        Translocation of GLUT4 to the plasma membrane
    Striated Muscle Contraction


    1 Kegg Pathway  (Kegg details for MYH8):
        Tight junction


    MYH8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYH8
    Interactions:

        Search GeneGlobe Interaction Network for MYH8

    3 Interacting proteins for MYH8 (P135353) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK2P249413I2D: score=1 
    PHB2Q996233I2D: score=1 
    SOD2P041793I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IMP17041932
    GO:0006200ATP catabolic process IMP17041932
    GO:0006936muscle contraction NAS2715179
    GO:0016192vesicle-mediated transport ----
    GO:0030049muscle filament sliding TAS--

    MYH8 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 MYH8 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]



    (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 MYH8 gene: 
    NM_002472.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000403437(uc002gmm.2)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MYH8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate MYH8:
    hsa-miR-2113
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MYH8
    Predesigned siRNA for gene silencing in human, mouse, rat MYH8
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    GenScript: all cDNA clones in your preferred vector: MYH8 (NM_002472)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYH8
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYH8
      QuantiTect SYBR Green Assays in human, mouse, rat MYH8
      QuantiFast Probe-based Assays in human, mouse, rat MYH8

    23 AceView cDNA sequences:

    AI378199 AU120424 BU735842 BV200212 NM_002472 Z38133 BV200213 BM697668 
    M36769 X51592 AA777043 AI678236 BV200211 AA828221 AI379742 AI379763 
    AU146494 T28193 AW269207 BE810243 AI379743 AW950405 BV183778 

    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™, 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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    MYH8 expression in normal human tissues (normalized intensities)      MYH8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYH8 Expression
    About this image


    MYH8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Multinuclear Myocytes Mandibular Arch Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
    MYH8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH8 Protein Expression
        Custom PCR Arrays for MYH8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH8

    (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 MYH8 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh81 , 5 myosin, heavy polypeptide 8, skeletal muscle, perinatal1, 5 88.85(n)1
    97.01(a)1
      11 (40.59 cM)5
    178851  NM_177369.31  NP_796343.21 
     672771245 
    chicken
    (Gallus gallus)
    Aves MYH1A6
    Gallus gallus myosin, heavy chain 1A, skeletal mus...
    89(a)
    many ↔ many
    18(433290-451636)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    87(a)
    many ↔ many
    2(109022921-109052169)


    ENSEMBL Gene Tree for MYH8 (if available)
    TreeFam Gene Tree for MYH8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH8 gene
    MYH12  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    14 SIMAP similar genes for MYH8 using alignment to 1 protein entry:     MYH8_HUMAN:
    MYH1    MYH2    MYH4    MYH3    MYH13    MYH6
    MYH7    MYH7B    MYH15    MYH16    MYH9    MYH11
    MYH10    MYH14

    MYH8 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 MYH8 (see all 897)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289327731,2,4
    Carney complex variant (CACOV)4--see VAR_0198102 mis40--------
    rs713657591,2
    C--10201914(+) ATATA-/TA/TA 
     TA
    /TGTA
    CAAGT
    1 -- int11NA 2
    rs1928452171,2
    --10282927(+) ATAGTA/GAATGC 1 -- ds50010--------
    rs1829349311,2
    --10282970(+) TTATAA/GTCTGG 1 -- ds50010--------
    rs1875657831,2
    --10283005(+) TTATTA/GCTTTT 1 -- ds50010--------
    rs1924802981,2
    --10283015(+) TCTTTC/TGTTGT 1 -- ds50010--------
    rs1161167371,2
    C,F--10283125(+) TAGATG/ACTCAA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1453060731,2
    --10283135(+) ATATCA/GTTTGT 1 -- ds50010--------
    rs1476639881,2
    --10283400(+) AAGTGA/GAAAAA 1 -- ds50010--------
    rs1122362521,2
    C--10283407(+) AAAATG/-AAAGT 1 -- ds50011Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for MYH8 (10293639 - 10325267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MYH8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507834CNV Insertion20534489
    nsv907679CNV Gain21882294
    nsv833366CNV Gain17160897
    nsv907673CNV Gain21882294
    nsv520771CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): MYH8
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160741   
    OMIM disorders: 608837  158300  
    UniProtKB/Swiss-Prot: MYH8_HUMAN, P13535
  • Carney complex variant (CACOV) [MIM:608837]: Carney complex is a multiple neoplasia syndrome
    characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous
    melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other
    phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous)
    myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do
    not develop in all patients with the Carney complex, but affected patients have at least two features of the
    complex or one feature and a clinically significant family history. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Arthrogryposis, distal, 7 (DA7) [MIM:158300]: 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. DA7 is characterized by an inability to open the mouth fully (trismus)
    and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion
    contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring
    muscles and short stature. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for MYH8:    About MalaCards
    melanotic neurilemmoma    neurilemmoma    trismus-pseudocamptodactyly syndrome    carney complex variant
    carney complex    distal muscular dystrophy    distal arthrogryposis    clubfoot
    ophthalmoplegia    myocarditis    muscular dystrophy    myopathy
    cervicitis    thyroiditis    multiple myeloma    myeloma

    5 diseases from the University of Copenhagen DISEASES database for MYH8:
    Distal arthrogryposis     Carney complex     Distal muscular dystrophy     Ophthalmoplegia
    Melanotic neurilemmoma

    MYH8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYH8
    Human Genome Epidemiology (HuGE) Navigator: MYH8 (4 documents)

    Export disorders for MYH8 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 MYH8 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MYH8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation of a full-length human perinatal myosin heavy-chain- encoding cDNA. (PubMed id 2373371)1, 2, 3 Karsch-Mizrachi I.... Leinwand L.A. (Gene 1990)
    2. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. (PubMed id 15282353)1, 2, 9 Veugelers M....Basson C.T. (N. Engl. J. Med. 2004)
    3. 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)
    4. Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. (PubMed id 20949528)1, 2 Bonapace G....Concolino D. (Am. J. Med. Genet. A 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Characterization of a human perinatal myosin heavy-chain transcript. (PubMed id 7601129)1, 2 Jullian E.H.... Rubinstein N.A. (Eur. J. Biochem. 1995)
    7. Identification of three developmentally controlled isoforms of human myosin heavy chains. (PubMed id 1691980)1, 2 Bober E....Arnold H.H. (Eur. J. Biochem. 1990)
    8. Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain. (PubMed id 2715179)1, 2 Feghali R. and Leinwand L.A. (J. Cell Biol. 1989)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4626 HGNC: 7578 AceView: MYH8 Ensembl:ENSG00000133020 euGenes: HUgn4626
    ECgene: MYH8 Kegg: 4626 H-InvDB: MYH8

    (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 MYH8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH8 gene:
    Search GeneIP for patents involving MYH8

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



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