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

MYH8 Gene

protein-coding   GIFtS: 59
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)
About This Section

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

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 trismus-pseudocamptodactyly syndrome, and carney complex variant, and among its related super-pathways are Striated Muscle Contraction and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include motor activity 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 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 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 SABiosciences Chromatin IP Primers for MYH8

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13535

  • MYH8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYH8 Protein Expression
    REFSEQ proteins: NP_002463.2  
    ENSEMBL proteins: 
     ENSP00000384330  
    Reactome Protein details: P13535
    Human Recombinant Protein Products for MYH8: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYH8 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex NAS2715179
    GO:0005925focal adhesion IDA--

    MYH8 for ontologies           About GeneDecksing



    MYH8 Antibody Products: 
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    Assay Products for MYH8: 
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    Cloud-Clone Corp. ELISAs for MYH8 
    Cloud-Clone Corp. CLIAs for MYH8


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    MYH8 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYH8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYH8

       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 QIAGEN miScript miRNA Assays for microRNA that regulate MYH8:
    hsa-miR-2113
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    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH8


    (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 MYH8 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYH8
        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 MYH8 (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 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
        Muscle contraction
    Striated Muscle Contraction


    2         Kegg Pathways  (Kegg details for MYH8):
        Tight junction
    Viral myocarditis


    MYH8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for 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]

    Search CenterWatch for drugs/clinical trials and news about MYH8

    (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 MYH8 gene: 
    NM_002472.2  

    Unigene Cluster for MYH8:

    Myosin, heavy chain 8, skeletal muscle, perinatal
    Hs.700484  [show with all ESTs]
    Unigene Representative Sequence: NM_002472
    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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH8:
    hsa-miR-2113
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MYH8
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH8

    Additional mRNA sequence: 

    AK303395.1 M36769.1 X51592.1 Z38133.1 

    2 DOTS entries:

    DT.409212  DT.87010282 

    23 AceView cDNA sequences:

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

    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 
     5/8 selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 22 entries
             Multinuclear Myocytes Mandibular Arch Muscles
             skeletal muscle ; myocytes   
             vastus lateralis   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
             mandibular prominence tissue e12.5   
     
     Heart (Cardiovascular System)
             heart muscle ; myocytes   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    See MYH8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYH8

    SOURCE GeneReport for Unigene cluster: Hs.700484
        SABiosciences Custom PCR Arrays for MYH8
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH8
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MYH8 gene from 3/11 species (see all 11)    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 MYH36
    MYH16
    (see all 7)
    Uncharacterized protein
    (see all 7)
    90(a)
    89(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    18(584154-601425)
    18(381895-399588)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    89(a)
    87(a)
    many ↔ many
    many ↔ many
    2(108951248-109016986)
    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)
    About This Section
    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    MYH11    MYH9
    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) 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

    10/897 SNPs in MYH8 are shown (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
    ----------
    VAR_0198104
    Carney complex variant (CACOV)4--see VAR_0198102 R Q 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH8
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH8

    (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.)
    About This Section
    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

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

    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)
    About This Section

    PubMed articles for MYH8 gene, integrated from 9 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. (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. (2004)
    3. 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)
    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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Characterization of a human perinatal myosin heavy-chain transcript. (PubMed id 7601129)1, 2 Jullian E.H.... Rubinstein N.A. (1995)
    7. Identification of three developmentally controlled isoforms of human myosin heavy chains. (PubMed id 1691980)1, 2 Bober E....Arnold H.H. (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. (1989)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

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

    (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 MYH8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH8

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