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

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)
About This Section

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

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, and among its related super-pathways are Muscle contraction and Immune response CCR3 signaling in eosinophils. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MYL9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P24844

  • MYL9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYL9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_006088.2  NP_852667.1  

    ENSEMBL proteins: 
     ENSP00000279022   ENSP00000217313  
    Reactome Protein details: P24844
    Human Recombinant Protein Products for MYL9: 
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    Cloud-Clone Corp. Proteins for MYL9 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



    MYL9 Antibody 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)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing
    MYL: Myosins / Light chain

    3 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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:
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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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYL9 About   (see all 28)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Smooth Muscle Contraction0.43
    Muscle contraction0.65
    2Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    3Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    5Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for MYL9
        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

    5/25 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/7        Reactome Pathways for MYL9 (see all 7)
        Developmental Biology
    Sema4D induced cell migration and growth-cone collapse
    Semaphorin interactions
    Smooth Muscle Contraction
    Muscle contraction


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


    MYL9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYL9

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

    5/44 Interacting proteins for MYL9 (P248443 ENSP000002790224) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYL9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MYL9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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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    Additional mRNA sequence: 

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

    24/27 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 

    24/752 AceView cDNA sequences (see all 752):

    CR622560 C05623 BF725585 BP373370 CA396705 AA295810 AI804673 BU617880 
    CB138440 AL576856 BU631774 BF725870 BM667931 BU628731 BQ030426 BQ640165 
    CA946296 BQ227877 BM709012 AA335076 AW949131 AI866906 AL554014 CA419254 

    GeneLoc Exon Structure

    5/6 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™, 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

    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 
     5/24 selected tissues (see all 24) fully expand
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 9 entries
             Ureter
             visceral organ   
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Metanephros
             visceral organ/metanephros/pelvis   
     
     Fibroblast
             X-gene Foreskin Fibroblasts   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle

    See MYL9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYL9

    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

        SABiosciences Expression via Pathway-Focused PCR Array including MYL9: 
              Cell Motility in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MYL9 gene from 7/15 species (see all 15)    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
    Uncharacterized protein
    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)
    About This Section
    Paralogs for MYL9 gene
    MYL12A2  MYL102  MYL72  MYL52  MYL22  MYLPF2  MYL12B2  
    18/22 SIMAP similar genes for MYL9 using alignment to 2 protein entries:     MYL9_HUMAN (see all proteins) (see all similar genes):
    MYL12A    MRLC3    MYL12B    MYLPF    MYL2    MYL5
    MYL7    CALM2    CALM1    CALM3    CALML3    MYL10
    TNNC2    CABP5    TNNC1    CABP2    CALML4    CALML6

    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) 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

    10/82 SNPs in MYL9 are shown (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

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    (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.)
    About This Section
    OMIM gene information: 609905    OMIM disorders: --

    3 diseases for MYL9:    About MalaCards
    familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy    myotonic dystrophy

    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)
    About This Section

    PubMed articles for MYL9 gene, integrated from 9 sources (see all 59):
    (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. (1989)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (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. (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. (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. (2005)
    6. Sp1 phosphorylation by cyclin-dependent kinase 1/cycli n B1 represses its DNA-binding activity during mitosis in cancer cells. (PubMed id 22266860)1 Chuang J.Y....Hung J.J. (2012)
    7. Surface CD3 expression proceeds through both myosin re gulatory light chain 9 (MYL9)-dependent and MYL9-independent pathways in Jurkat cells. (PubMed id 23538510)1 Aoki T....Higashihara M. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. 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. (2012)
    10. Nogo-B regulates migration and contraction of airway smooth muscle cells by decreasing ARPC 2/3 and increasing MYL-9 expression. (PubMed id 21251247)1 Xu W....Li Q. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10398 HGNC: 15754 AceView: MYL9 Ensembl:ENSG00000101335 euGenes: HUgn10398
    ECgene: MYL9 Kegg: 10398 H-InvDB: MYL9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYL9 Pharmacogenomics, SNPs, Pathways

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