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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...)
 Explore 7 diseases affiliated with
MYH8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYH8    

Aliases
for MYH8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal1 2     Fetal-Myosin Heavy Chain2
MyHC-Peri1     GtMHC-F1
MyHC-Pn1     MyHC-Perinatal1
Myosin, Heavy Polypeptide 8, Skeletal Muscle, Perinatal1 2     Myosin-81
Myosin Heavy Chain 82 3     MyHC-Perinatal1
Myosin Heavy Chain, Skeletal Muscle, Perinatal2 3     

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


Summaries
for MYH8 gene

(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:
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)

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

summary for MYH8:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 plasmid: MYH8 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: 17pter-p12

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

Proteins
for MYH8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13535

    • MYH8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002463.2  
    ENSEMBL proteins: 
     ENSP00000384330  
    Reactome Protein details: P13535
    Human Recombinant Protein Products: 
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    Uscn Proteins for MYH8

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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



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    Uscn ELISAs and CLIAs for MYH8

    Protein Domains /
    Families
    for MYH8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYH8 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR004009 Myosin_N
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail
     IPR015650 Myosin_1/23/4/7/8/13/15
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry P13535

    ProtoNet protein and cluster: P13535

    3 Blocks protein families:
    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


    Function
    for MYH8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MYH8:
    hsa-miR-2113
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008307structural constituent of muscle NAS2715179


    MYH8 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MYH8:
     Increased G1 DNA content 


    Pathways & Interactions
    for MYH8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases0.49
    2Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Inhibitory action of Lipoxins on neutrophil migration0.51
    		Immune response CCR3 signaling in eosinophils1.00
    3PAK Pathway
    		PAK Pathway1.00
    		Epithelial Adherens Junctions0.36
    		Antioxidant Action of Vitamin-C0.56
    4Striated Muscle Contraction
    		Striated Muscle Contraction1.00
    		Muscle contraction0.65
    		Striated Muscle Contraction0.87
    5Cell adhesion Tight junctions
    		Cell adhesion Tight junctions1.00
    		Cell adhesion_Tight junctions0.99

    Pathway sources
    See GeneCards unified pathways
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction NAS2715179
    GO:0030049muscle filament sliding TAS--


    MYH8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYH8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II. Inactive enantiomer of (±)-blebbistatin (Cat. No. 1760)--
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II. Active enantiomer of (±)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (±)-BlebbistatinSelective inhibitor of myosin II[674289-55-5]
    Search CenterWatch for drugs/clinical trials and news about MYH8 

    Transcripts
    for MYH8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)

    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYH8 (see all 4)
    OriGene shRNA RFP: MYH8
    OriGene siRNA: MYH8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH8
    Clone
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    GenScript: all cDNA clones in your preferred vector: MYH8 (NM_002472)
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    Primer
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.409212  DT.87010282 

    23 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for MYH8 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYH8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH8

    Orthologs
    for MYH8 gene

    (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 animals.

    Orthologs for MYH8 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYH36
    --
    (see all 7)    		 Uncharacterized protein
    (see all 7)    		 92(a)
    89(a)
    (see all 7)    		 many ↔ many
    many ↔ many
    (see all 7)    		 18(17-7186)
    18(547513-570055)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 87(a)
    		 1 → many
    		 2(109026006-109052169)
    zebrafish
    (Danio rerio)    		 Actinopterygii CABZ01102039.16
    		 --
    		 43(a)
    		 possible ortholog
    		 12(67545-75100)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mhc3 striated muscle contraction myosin ATPase 51(a)
    (best of 2)    		   2 36B1   --
    worm
    (Caenorhabditis elegans)    		 Secernentea F58G4.13 myosin 48(a)
    (best of 4)    		   V(8111649-8120439)   --


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

    Paralogs
    for MYH8 gene

    (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  MYH132  MYH102  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



    Genomic Variants
    for MYH8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/665 NCBI SNPs in MYH8 are shown (see all 665)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1161167371,2
    		C,F,--10192950(+) TAGATG/ACTCAA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs37445511,2
    		C,F,H,--10193298(+) ATAAAC/GGTCAT 1 -- ut31 ese310Minor allele frequency- G:0.02NA NS EA 674
    rs1122847631,2
    		--10193758(+) TTATGA/TTTTAT 1 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs284241741,2
    		--10193798(+) TGTACA/CCTTAT 1 -- int12Minor allele frequency- C:0.05CSA WA 120
    rs284590231,2
    		--10194286(+) TCAACC/TCTTAC 1 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1133515621,2
    		--10194326(+) TGGGCG/ATGGTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs284154481,2
    		--10194472(+) GTGCAC/TGCCTG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs781677081,2
    		F,--10194691(+) CTTAAA/CATGAG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1116939781,2
    		F,--10194998(+) CTGGGG/ATAAAC 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs746347221,2
    		C,--10195223(+) AATACC/TCAGTT 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for MYH8 (10293639 - 10325267 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MYH8: --
    Human Gene Mutation Database (HGMD): MYH8

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MYH8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MYH8 for disorders           About GeneDecksing

    OMIM gene information: 160741   
    OMIM disorders: 608837  158300  
    UniProtKB/Swiss-Prot: MYH8_HUMAN, P13535
  • Defects in MYH8 are a cause of 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
  • Defects in MYH8 are a cause of distal arthrogryposis type (DA7) [MIM:158300]. A hereditary distal
    • arthrogryposis 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. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb
    contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant
    trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding
    during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent
    occupational and social disability. Many patients require surgical correction of contractures

    7 diseases for MYH8:    About MalaCards
    trismus-pseudocamptodactyly syndrome    carney complex variant    melanotic neurilemmoma    carney complex
    myxoma    hermaphroditism    pharyngitis

    5 diseases from the University of Copenhagen DISEASES database for MYH8:
    Distal arthrogryposis     Carney complex     Distal muscular dystrophy     Ophthalmoplegia
    Melanotic neurilemmoma
    Human Genome Epidemiology (HuGE) Navigator: MYH8 (4 documents)

    Export disorders for MYH8 gene to outside databases

    Publications
    for MYH8 gene

    (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 20):
    (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. 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)
    4. Characterization of a human perinatal myosin heavy-chain transcript. (PubMed id 7601129)1, 2 Jullian E.H.... Rubinstein N.A. (1995)
    5. Identification of three developmentally controlled isoforms of human myosin heavy chains. (PubMed id 1691980)1, 2 Bober E....Arnold H.H. (1990)
    6. Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain. (PubMed id 2715179)1, 2 Feghali R. and Leinwand L.A. (1989)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    9. Evaluation of embryonic and perinatal myosin gene mut ations and the etiology of congenital idiopathic clubfoot. (PubMed id 20357587)1 Shyy W....Morcuende J.A. (2010)
    10. 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 Bailey S.D....Anand S. (2010)

    External Searches for MYH8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing MYH8 gene

    (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

    Other Databases showing MYH8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MYH8 gene

    (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

    Intellectual Property
    for MYH8 gene

    (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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