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MYH14 Gene

protein-coding   GIFtS: 64
GCID: GC19P050706

Myosin, Heavy Chain 14, Non-Muscle

(Previous names: myosin, heavy polypeptide 14, myosin, heavy chain 14)
(Previous symbol: DFNA4)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Heavy Chain 14, Non-Muscle1 2     Myosin, Heavy Chain 141
DFNA41 2     MHC162
Myosin, Heavy Polypeptide 141 2     MYH172
Myosin Heavy Chain, Non-Muscle IIc2 3     NMHC-II-C2
Non-Muscle Myosin Heavy Chain IIc2 3     MYH14 Variant Protein2
NMHC II-C2 3     myosin2
DFNA4A2 5     myosin-142
PNMHH2 5     Nonmuscle Myosin Heavy Chain II-C2
KIAA20343 5     Myosin Heavy Chain 143

External Ids:    HGNC: 232121   Entrez Gene: 797842   Ensembl: ENSG000001053577   OMIM: 6085685   UniProtKB: Q7Z4063   

Export aliases for MYH14 gene to outside databases

Previous GC identifers: GC19P055451 GC19P055405 GC19P055398 GC19P047045


(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 MYH14 Gene:
This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it
should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with
diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene
result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for MYH14 Gene:
MYH14 (myosin, heavy chain 14, non-muscle) is a protein-coding gene. Diseases associated with MYH14 include peripheral neuropathy, myopathy, hoarseness, and hearing loss, and dfna 4 nonsyndromic hearing loss and deafness. GO annotations related to this gene include microfilament motor activity and calmodulin binding. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406
Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
as secretion and capping (By similarity)

summary for MYH14 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 MYH14 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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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYH14 gene promoter:
         AhR   Sp1   Olf-1   CUTL1   LCR-F1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYH14 promoter sequence
   Search Chromatin IP Primers for MYH14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

MYH14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH14 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050706:  view genomic region     (about GC identifiers)

Start:
50,691,443 bp from pter      End:
50,813,802 bp from pter
Size:
122,360 bases      Orientation:
plus 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: MYH14_HUMAN, Q7Z406 (See protein sequence)
Recommended Name: Myosin-14  
Size: 1995 amino acids; 227871 Da
Subunit: 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) (By similarity)
Sequence caution: Sequence=AAO39147.1; Type=Frameshift; Positions=1017, 1057; Sequence=AAP34449.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAP34449.1; Type=Frameshift; Positions=1016, 1057,
1490, 1755; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BG468611; Type=Erroneous termination; Positions=403; Note=Translated as Leu;
1 PDB 3D structure from and Proteopedia for MYH14:
2YCU (3D)    
Secondary accessions: B0I1S2 C3TTN4 Q5CZ75 Q6XYE4 Q76B62 Q8WV23 Q96I22 Q9BT27 Q9BW35 Q9H882
Alternative splicing: 5 isoforms:  Q7Z406-1   Q7Z406-2   Q7Z406-4   Q7Z406-5   Q7Z406-6   

Explore the universe of human proteins at neXtProt for MYH14: NX_Q7Z406

Explore proteomics data for MYH14 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys252, Lys429, Lys755, Lys859, Lys880, Lys1469
  • Modification sites at PhosphoSitePlus

  • See MYH14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070654.1  NP_001139281.1  NP_079005.3  

    ENSEMBL proteins: 
     ENSP00000472543   ENSP00000469573   ENSP00000470298   ENSP00000472819   ENSP00000406273  
     ENSP00000366169   ENSP00000407879   ENSP00000262269  
    Reactome Protein details: Q7Z406

    MYH14 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MYH14

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH14
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    Novus Biologicals MYH14 Antibodies
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    MYH14 Assay Products:

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    Cloud-Clone Corp. ELISAs for MYH14
    Cloud-Clone Corp. CLIAs for MYH14


    (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

    5 InterPro protein domains:
     IPR027401 Myosin-like_IQ_dom
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z406

    ProtoNet protein and cluster: Q7Z406

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


    UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406
    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 (By similarity)
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    MYH14 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: MYH14_HUMAN, Q7Z406
    Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such
    as secretion and capping (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IEA--
    GO:0003774motor activity ----
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    MYH14 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Myh14):
     cardiovascular system  cellular  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  respiratory system  tumorigenesis 

    MYH14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myh14tm1Rsad for MYH14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYH14
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYH14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYH14

    miRNA
    Products:
        
    miRTarBase miRNAs that target MYH14:
    hsa-mir-193b-3p (MIRT041383), hsa-mir-615-3p (MIRT040265), hsa-mir-877-3p (MIRT037141)

    Block miRNA regulation of human, mouse, rat MYH14 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MYH14:
    hsa-miR-4254 hsa-miR-1321 hsa-miR-625 hsa-miR-30b*
    SwitchGear 3'UTR luciferase reporter plasmidMYH14 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MYH14
    Predesigned siRNA for gene silencing in human, mouse, rat MYH14

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for MYH14
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    GenScript: all cDNA clones in your preferred vector (see all 3): MYH14 (NM_024729)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH14
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYH14

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    Browse ESI BIO Cell Lines and PureStem Progenitors for MYH14 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH14


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005737cytoplasm IEA--
    GO:0016459myosin complex ----
    GO:0016460myosin II complex IDA--
    GO:0030424axon IEA--

    MYH14 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 MYH14 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Semaphorin interactions
    Sema4D in semaphorin signaling0.90
    Semaphorin interactions0.43
    Sema4D induced cell migration and growth-cone collapse0.90
    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 MYH14 (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for MYH14
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for MYH14 (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 Reactome Pathway for MYH14
        Sema4D induced cell migration and growth-cone collapse


    3 Kegg Pathways  (Kegg details for MYH14):
        Tight junction
    Regulation of actin cytoskeleton
    Salmonella infection


    MYH14 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYH14
    Interactions:

        GeneGlobe Interaction Network for MYH14

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

    Selected Interacting proteins for MYH14 (Q7Z4062, 3 ENSP000004078794) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2876387 I2D: score=3 STRING: ENSP00000344782
    CHUKO151112, 3, ENSP000003594244MINT-48055 I2D: score=2 STRING: ENSP00000359424
    TRPM6Q9BX842, 3, ENSP000003540064MINT-6699445 I2D: score=1 STRING: ENSP00000354006
    TRPM7Q96QT42, 3, ENSP000003202394MINT-6699418 I2D: score=1 STRING: ENSP00000320239
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IMP--
    GO:0006200ATP catabolic process IDA--
    GO:0007411axon guidance TAS--
    GO:0007519skeletal muscle tissue development IMP--
    GO:0007605sensory perception of sound IMP--

    MYH14 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
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      Browse compounds at ApexBio 

    Compounds for MYH14 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]

    9 DrugBank Compounds for MYH14    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Mant-Adp-- --target--17139284 17016423 10592235
    Pyrophosphate 2--- --target--17139284 17016423 10592235
    Tetrafluoroaluminate Ion-- --target--17139284 17016423 10592235
    (3aS)-3a-hydroxy-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one-- --target--10592235
    (3aS)-3a-hydroxy-5-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one-- --target--10592235
    (3aS)-3a-hydroxy-7-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one-- --target--10592235
    (S)-blebbistatin-- --target--10592235
    N-METHYL O-NITROPHENYL AMINOETHYLDIPHOSPHATE BERYLLIUM TRIFLUORIDE-- --target--10592235



    (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 MYH14 gene (3 alternative transcripts): 
    NM_001077186.1  NM_001145809.1  NM_024729.3  

    Unigene Cluster for MYH14:

    Myosin, heavy chain 14, non-muscle
    Hs.467142  [show with all ESTs]
    Unigene Representative Sequence: NM_001145809
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598205 ENST00000599920 ENST00000601313 ENST00000596571 ENST00000595016
    ENST00000597072 ENST00000440075 ENST00000376970(uc010enu.1) ENST00000425460(uc002prq.1 uc002prr.1)
    ENST00000262269(uc010ycb.2 uc002prs.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    4 qRT-PCR Assays for microRNAs that regulate MYH14:
    hsa-miR-4254 hsa-miR-1321 hsa-miR-625 hsa-miR-30b*
    SwitchGear 3'UTR luciferase reporter plasmidMYH14 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MYH14
      QuantiFast Probe-based Assays in human, mouse, rat MYH14

    Additional mRNA sequence: 

    AB111886.1 AB290169.1 AK023943.1 AK091982.1 AK125082.1 AK303704.1 AK307783.1 AY165122.1 
    AY203926.1 BC000676.2 BC004396.1 BC007877.2 BC018933.2 BC129803.1 CR936653.1 FJ041910.1 
    L29142.1 

    12 DOTS entries:

    DT.91860099  DT.100780806  DT.412295  DT.75130529  DT.95172509  DT.100780805  DT.91705791  DT.65284685 
    DT.100028501  DT.121484492  DT.92033457  DT.97768409 

    Selected AceView cDNA sequences (see all 136):

    BF346363 BE858141 D45581 BM696629 AA402720 AU141917 AI471201 BQ687950 
    CA438424 BC007877 BU171238 AW084124 BM704311 BU543194 AI720993 BU185828 
    BC004396 CB141898 AB111886 BQ686907 BU160610 BU538826 BE410773 BU185920 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MYH14    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                            -                                                               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41
    SP1:                                                  -                                                                     
    SP2:                                                                                                                        
    SP3:                                -     -     -     -     -                                                               
    SP4:                                                                                                                        


    ECgene alternative splicing isoforms for MYH14

    (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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    MYH14 expression in normal human tissues (normalized intensities)      MYH14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTGCCCTC
    MYH14 Expression
    About this image


    MYH14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lung (Respiratory System)
             Trachea
    MYH14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467142

    UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406
    Tissue specificity: High levels of expression are found in brain (highest in corpus callosum), heart, kidney,
    liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth
    muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta
    and lymphocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MYH14 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh141 , 5 myosin, heavy polypeptide 141, 5 85.4(n)1
    92.57(a)1
      7 (28.85 cM)5
    719601  NM_001271538.11  NP_001258467.11 
     446058035 
    lizard
    (Anolis carolinensis)
    Reptilia MYH146
    myosin, heavy chain 14, non-muscle
    72(a)
    1 ↔ 1
    GL343279.1(786081-865857)
    zebrafish
    (Danio rerio)
    Actinopterygii myh146
    myosin, heavy chain 14, non-muscle
    62(a)
    1 ↔ 1
    16(18910991-19006265) ENSDARG00000073732
    fruit fly
    (Drosophila melanogaster)
    Insecta zip6
    zipper
    54(a)
    1 → many
    2R(20878093-20899488)
    worm
    (Caenorhabditis elegans)
    Secernentea nmy-16
    nmy-26
    Protein NMY-2 (nmy-2) mRNA, complete cds
    48(a)
    43(a)
    many ↔ many
    many ↔ many
    X(2909556-2918037) WBGene00003776
    I(7926623-7934577) WBGene00003777
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO16
    Type II myosin heavy chain, required for wild-type...
    29(a)
    1 → many
    VIII(151666-157452) YHR023W


    ENSEMBL Gene Tree for MYH14 (if available)
    TreeFam Gene Tree for MYH14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH14 gene
    MYH82  MYH12  MYH22  MYH112  MYH92  MYH102  MYH132  MYH7B2  
    MYH42  MYH32  MYH152  MYH62  MYH72  
    Selected SIMAP similar genes for MYH14 using alignment to 5 protein entries:     MYH14_HUMAN (see all proteins) (see all similar genes):
    MYH9    MYH11    MYH10    FLJ00279    MYO1E    MYH2
    MYH7    MYH1    MYO18A    MYH8    MYH4    MYH13
    MYH6    MYH7B    MYH3    MYH15    MYO5B    MYO1G

    MYH14 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 MYH14 (see all 2829)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0663384
    Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)4--see VAR_0663382 R L mis40--------
    VAR_0373024
    Deafness, autosomal dominant, 4A (DFNA4A)4--see VAR_0373022 S L mis40--------
    VAR_0228674
    Deafness, autosomal dominant, 4A (DFNA4A)4--see VAR_0228672 G C mis40--------
    rs1191032801,2
    C,Fpathogenic150929052(+) AGTTTG/TGCAAC 6 G C mis11Minor allele frequency- T:0.01EU 569
    rs1139939561,2
    Cuntested150952575(+) AGCCCA/G/TCAAGC 6 R L mis10--------
    rs581815611,2
    C--50711715(+) ACAAACAAA/-  
            
    AAAAC
    3 -- int11Minor allele frequency- -:0.50NA 2
    rs352740761,2
    C--50711716(+) ACAAA-/AAAACC
            
    CAACA
    3 -- int10--------
    rs104111841,2
    C,F,A--50712885(+) aaataG/Caaaac 3 -- int14Minor allele frequency- C:0.07WA NA 242
    rs104113751,2
    C,F--50712958(+) atggcG/Atgaac 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1122312491,2
    C,F--50713024(+) CGACAG/CAGTGA 3 -- int11Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for MYH14 (50691443 - 50813802 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MYH14 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718731CNV Deletion23290073
    esv2667501CNV Deletion23128226
    esv2664956CNV Deletion23128226
    esv2718727CNV Deletion23290073
    esv1752526CNV Deletion17803354
    esv2718728CNV Deletion23290073
    esv2718730CNV Deletion23290073
    nsv912277CNV Loss21882294
    nsv912278CNV Loss21882294
    nsv2528CNV Loss18451855

    Human Gene Mutation Database (HGMD): MYH14
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH14
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH14

    (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: 608568   
    OMIM disorders: 600652  614369  
    UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406
  • Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]: A complex phenotype
    of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss.
    Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy
    of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first
    affects anterior leg muscles and later posterior leg muscles. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for MYH14 (see all 22):    About MalaCards
    peripheral neuropathy, myopathy, hoarseness, and hearing loss    dfna 4 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 4a    deafness, autosomal dominant 4b
    nonsyndromic hearing loss and deafness, autosomal dominant    peripheral neuropathy    nonsyndromic hearing loss and deafness    deafness and hereditary hearing loss
    nonsyndromic deafness    myopathy    myocarditis    sensorineural hearing loss
    neuropathy    cleft palate    cleft lip    hodgkin's lymphoma
    ataxia    cervicitis    hepatocellular carcinoma    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for MYH14:
    Nonsyndromic deafness     Hodgkin's lymphoma, nodular sclerosis

    MYH14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYH14
    Human Genome Epidemiology (HuGE) Navigator: MYH14 (8 documents)

    Export disorders for MYH14 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 MYH14 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with MYH14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (PubMed id 15015131)1, 2, 3 Donaudy F.... Savoia A. (Am. J. Hum. Genet. 2004)
    2. A novel myosin heavy chain gene in human chromosome 19q13.3. (PubMed id 12909352)1, 2, 3 Leal A.... Rautenstrauss B. (Gene 2003)
    3. Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. (PubMed id 18471249)1, 4, 9 Martinelli M....Carinci F. (Eur. J. Oral Sci. 2008)
    4. Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. (PubMed id 14594953)1, 2, 9 Golomb E.... Adelstein R.S. (J. Biol. Chem. 2004)
    5. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. (PubMed id 21480433)1, 2 Choi B.O.... Chung K.W. (Hum. Mutat. 2011)
    6. An alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation. (PubMed id 19240025)1, 2 Jana S.S....Adelstein R.S. (J. Biol. Chem. 2009)
    7. Divergent evolution of the myosin heavy chain gene family in fish and tetrapods: evidence from comparative genomic analysis. (PubMed id 17940200)1, 3 Ikeda D....Watabe S. (Physiol. Genomics 2007)
    8. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79784 HGNC: 23212 AceView: MYH14 Ensembl:ENSG00000105357 euGenes: HUgn79784
    ECgene: MYH14 Kegg: 79784 H-InvDB: MYH14

    (According to HUGE)
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    HUGE: KIAA2034

    (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 MYH14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH14 gene:
    Search GeneIP for patents involving MYH14

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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