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MYL9 Gene

protein-coding   GIFtS: 62
GCID: GC20P035169

Myosin, Light Chain 9, Regulatory

(Previous names: myosin, light polypeptide 9, regulatory)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Light Chain 9, Regulatory1 2     20 KDa Myosin Light Chain2 3
MLC22 3 5     LC202 3
Myosin, Light Polypeptide 9, Regulatory1 2     MLC-2C2 3
Myosin Regulatory Light Chain 11 2     MRLC12 3
Myosin Regulatory Light Chain 2, Smooth Muscle Isoform2 3     MYRL22 3
Myosin Regulatory Light Chain 92 3     Myosin Regulatory Light Chain 21
Myosin Regulatory Light Chain MRLC12 3     Smooth Muscle Isoform1
Myosin RLC2 3     Myosin Regulatory Light Polypeptide 92

External Ids:    HGNC: 157541   Entrez Gene: 103982   Ensembl: ENSG000001013357   OMIM: 6099055   UniProtKB: P248443   

Export aliases for MYL9 gene to outside databases

Previous GC identifers: GC20P034898 GC20P035808 GC20P035855 GC20P034603 GC20P031906


(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 MYL9 Gene:
Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded
by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of
myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYL9 Gene:
MYL9 (myosin, light chain 9, regulatory) is a protein-coding gene. Diseases associated with MYL9 include familial hypertrophic cardiomyopathy, and hypertrophic cardiomyopathy. GO annotations related to this gene include structural constituent of muscle and calcium ion binding. An important paralog of this gene is MYL12A.

UniProtKB/Swiss-Prot: MYL9_HUMAN, P24844
Function: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle
cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell
locomotion

summary for MYL9 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 MYL9 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_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYL9 gene promoter:
         p53   MyoD   Pax-2   Olf-1   XBP-1   Pax-2a   Tal-1beta   Gfi-1   GATA-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYL9 promoter sequence
   Search Chromatin IP Primers for MYL9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYL9


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

Entrez Gene cytogenetic band: 20q11.23   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

MYL9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL9 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P035169:  view genomic region     (about GC identifiers)

Start:
35,169,887 bp from pter      End:
35,178,228 bp from pter
Size:
8,342 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: MYL9_HUMAN, P24844 (See protein sequence)
Recommended Name: Myosin regulatory light polypeptide 9  
Size: 172 amino acids; 19827 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Miscellaneous: This chain binds calcium
Secondary accessions: E1P5T6 Q9BQL9 Q9BUF9 Q9H136
Alternative splicing: 2 isoforms:  P24844-1   P24844-2   

Explore the universe of human proteins at neXtProt for MYL9: NX_P24844

Explore proteomics data for MYL9 at MOPED

Post-translational modifications: 

  • Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile
    activity. It is required to generate the driving force in the migration of the cells but not necessary for
    localization of myosin-2 at the leading edge (By similarity)1
  • Ubiquitination2 at Lys51
  • Modification sites at PhosphoSitePlus

  • See MYL9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006088.2  NP_852667.1  

    ENSEMBL proteins: 
     ENSP00000279022   ENSP00000217313  
    Reactome Protein details: P24844

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    MYL9 Assay Products:

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    Cloud-Clone Corp. CLIAs for MYL9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P24844

    ProtoNet protein and cluster: P24844

    UniProtKB/Swiss-Prot: MYL9_HUMAN, P24844
    Similarity: Contains 3 EF-hand domains


    MYL9 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: MYL9_HUMAN, P24844
    Function: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle
    cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell
    locomotion

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008307structural constituent of muscle TAS2526655
         
    MYL9 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYL9
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    hsa-miR-663 hsa-miR-491-5p hsa-miR-1908
    SwitchGear 3'UTR luciferase reporter plasmidMYL9 3' UTR sequence
    Inhib. RNA
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    (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
    cytoskeleton4
    cytosol4
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex TAS2526655
    GO:0016460myosin II complex ----
    GO:0030018Z disc IEA--

    MYL9 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 MYL9 About   (see all 27)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Smooth Muscle Contraction0.47
    Muscle contraction0.61
    2Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4Cell 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
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYL9 (see all 25)
        RhoA Pathway
    PKA Signaling
    Actin-Based Motility by Rho Family GTPases
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C

    1 Cell Signaling Technology (CST) Pathway for MYL9
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for MYL9 (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 MYL9
        Striated Muscle Contraction

    2 Reactome Pathways for MYL9
        Smooth Muscle Contraction
    Sema4D induced cell migration and growth-cone collapse


    Selected Kegg Pathways  (Kegg details for MYL9) (see all 6):
        Vascular smooth muscle contraction
    Focal adhesion
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton


    MYL9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MYL9: 
              Cell Motility in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MYL9

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

    Selected Interacting proteins for MYL9 (P248443 ENSP000002790224) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42BPAQ5VT253, ENSP000003557314I2D: score=1 STRING: ENSP00000355731
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    MYH9P355793, ENSP000002161814I2D: score=3 STRING: ENSP00000216181
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0006937regulation of muscle contraction TAS2526655
    GO:0007411axon guidance TAS--

    MYL9 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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MYL9 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]

    1 HMDB Compound for MYL9    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 Novoseek inferred chemical compound relationships for MYL9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 69.4 4 7611441 (1), 20089714 (1), 7767885 (1)
    okadaic acid 37.9 1 1421576 (1)
    isoproterenol 21.3 1 1512034 (1)
    calcium 17.3 9 2244912 (2), 9217870 (1), 16076902 (1), 17200564 (1)



    MYL9 for compounds           About GeneDecksing



    (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 MYL9 gene (2 alternative transcripts): 
    NM_006097.4  NM_181526.2  

    Unigene Cluster for MYL9:

    Myosin, light chain 9, regulatory
    Hs.504687  [show with all ESTs]
    Unigene Representative Sequence: BM473095
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000279022(uc002xfl.1 uc002xfm.1) ENST00000346786
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMYL9 3' UTR sequence
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    Additional mRNA sequence: 

    AF176042.1 AF176043.1 AK130879.1 BC002648.2 CR456843.1 D82057.1 J02854.1 

    Selected DOTS entries (see all 27):

    DT.95286486  DT.455515  DT.100773731  DT.120811100  DT.95373669  DT.100813209  DT.100813208  DT.102839074 
    DT.91724841  DT.100813210  DT.95373678  DT.92454181  DT.95069319  DT.95373679  DT.120811007  DT.95365419 
    DT.120811033  DT.40107721  DT.75186726  DT.92454202  DT.100813205  DT.100813206  DT.100813211  DT.455851 

    Selected AceView cDNA sequences (see all 752):

    BF055306 AA565008 BU631774 AA318181 AI866906 CA394322 CR608537 BM839777 
    BF725870 BF725062 CF131130 BM673712 BU553229 BQ435210 CA395863 CF130893 
    CF126711 BM551051 C05336 AA652190 BM696386 BF724175 AA295869 BM669129 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYL9 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
    SP1:                    -                 -                           
    SP2:                    -     -           -                           
    SP3:                    -     -           -     -                     
    SP4:                    -     -           -     -     -               
    SP5:                          -           -                           


    ECgene alternative splicing isoforms for MYL9

    (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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    MYL9 expression in normal human tissues (normalized intensities)      MYL9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGTGTGCT
    MYL9 Expression
    About this image


    MYL9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 27) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    MYL9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYL9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504687

    UniProtKB/Swiss-Prot: MYL9_HUMAN, P24844
    Tissue specificity: Smooth muscle tissues and in some, but not all, nonmuscle cells

        Pathway & Disease-focused RT2 Profiler PCR Array including MYL9: 
              Cell Motility in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL9

    (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.

    Orthologs for MYL9 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl91 , 5 myosin, light polypeptide 9, regulatory1, 5 92.05(n)1
    99.42(a)1
      2 (77.77 cM)5
    989321  NM_172118.11  NP_742116.11 
     1567754205 
    chicken
    (Gallus gallus)
    Aves MYL91 myosin, light chain 9, regulatory 88.18(n)
    99.42(a)
      396215  NM_205278.1  NP_990609.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYL96
    myosin, light chain 9, regulatory
    99(a)
    1 ↔ 1
    4(138601674-138609385)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119182 Xenopus laevis transcribed sequence with strong similarity more 85.79(n)    BJ067417.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa10d122 Danio rerio cDNA clone IMAGE5605247, partial cds 83.05(n)    BC052106.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sqh3 cytokinesis myosin ATPase 81(a)   1 5E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea mlc-13   -- 48(a)
    (best of 2)
      X(17487746-17490952)   --


    ENSEMBL Gene Tree for MYL9 (if available)
    TreeFam Gene Tree for MYL9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYL9 gene
    MYL12A2  MYL102  MYL72  MYL52  MYL22  MYLPF2  MYL12B2  
    Selected SIMAP similar genes for MYL9 using alignment to 2 protein entries:     MYL9_HUMAN (see all proteins) (see all similar genes):
    MYL12A    MYL12B    MYLPF    MYL5    MYL2    MYL7
    CALM1    CALM2    CALM3    CALML3    MYL10    TNNC2
    CABP5    TNNC1    CABP2    CALML4    CALML6    CALML5

    MYL9 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for MYL9
    PGOHUM00000258653 PGOHUM00000237441 PGOHUM00000249306


    (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 MYL9 (see all 82)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs60262841,2
    C,F,A,H--35167939(+) ccaatA/Gagtag 2 -- us2k113Minor allele frequency- G:0.27NS EA NA WA CSA 1315
    rs1853800701,2
    --35168076(+) ATGGTG/TGTGAT 2 -- us2k10--------
    rs1898630111,2
    --35168187(+) GATGGC/TGCCAC 2 -- us2k10--------
    rs1145421931,2
    C,F--35168281(+) TGTTAC/G/TGTATA 2 -- us2k11WA 118
    rs1825478151,2
    --35168403(+) TGGGAC/TAACTG 2 -- us2k10--------
    rs60263221,2
    C,F,A,H--35168525(+) tcactG/Aaaaca 2 -- us2k110Minor allele frequency- A:0.02NS EA NA WA 1206
    rs1437579721,2
    C--35168616(+) TGTAT-/TATATAT 2 -- us2k10--------
    rs1871634781,2
    --35168808(+) CCCAAA/TCTGCT 2 -- us2k10--------
    rs1399909551,2
    --35168815(+) TGCTCC/GACACA 2 -- us2k10--------
    rs1884334241,2
    --35168833(+) CATCAC/TAGAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYL9 (35169887 - 35178228 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYL9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833967CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MYL9
    DNA2.0 Custom Variant and Variant Library Synthesis for MYL9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609905    OMIM disorders: --

    5 diseases for MYL9:    About MalaCards
    familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy    myotonic dystrophy    hiv-1
    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for MYL9:
    Familial hypertrophic cardiomyopathy

    MYL9 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MYL9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heart failure 18.9 1 12566123 (1)
    tumors 0 1 17190792 (1)


    Export disorders for MYL9 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 MYL9 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with MYL9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells. (PubMed id 2526655)1, 2, 3 Kumar C.C.... Leibowitz P.J. (Biochemistry 1989)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    3. Diphosphorylated MRLC is required for organization of stress fibers in interphase cells and the contractile ring in dividing cells. (PubMed id 11942626)1, 2 Iwasaki T.... Hosoya H. (Cell Struct. Funct. 2001)
    4. MAL/SRF complex is involved in platelet formation and megakaryocyte migration by regulating MYL9 (MLC2) and MMP9. (PubMed id 19724058)1, 9 Gilles L....Raslova H. (Blood 2009)
    5. The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. (PubMed id 16076902)1, 9 Szczesna-Cordary D....Diaz-Perez Z. (J. Cell. Sci. 2005)
    6. Histone methyltransferase SMYD3 promotes MRTF-A-mediated transactivation of MYL9 and migration of MCF-7 breast cancer cells. (PubMed id 24189459)1 Luo X.G....Zhang T.C. (Cancer Lett. 2014)
    7. Sp1 phosphorylation by cyclin-dependent kinase 1/cyclin B1 represses its DNA-binding activity during mitosis in cancer cells. (PubMed id 22266860)1 Chuang J.Y....Hung J.J. (Oncogene 2012)
    8. Surface CD3 expression proceeds through both myosin regulatory light chain 9 (MYL9)-dependent and MYL9-independent pathways in Jurkat cells. (PubMed id 23538510)1 Aoki T....Higashihara M. (J Smooth Muscle Res 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10398 HGNC: 15754 AceView: MYL9 Ensembl:ENSG00000101335 euGenes: HUgn10398
    ECgene: MYL9 Kegg: 10398 H-InvDB: MYL9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYL9 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 MYL9 gene:
    Search GeneIP for patents involving MYL9

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



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