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

MYL6 Gene

protein-coding   GIFtS: 63
GCID: GC12P056552

Myosin, Light Chain 6, Alkali, Smooth Muscle And Non-Muscle

(Previous names: myosin, light polypeptide 6, alkali, smooth muscle and non-muscle)
  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 6, Alkali, Smooth Muscle And Non-Muscle1 2     LC17-NM2
Myosin, Light Polypeptide 6, Alkali, Smooth Muscle And Non-Muscle1 2     LC17A2
Myosin Light Chain A32 3     LC17B2
Myosin Light Chain Alkali 32 3     MLC1SM2
17 KDa Myosin Light Chain2 3     MLC3NM2
LC172 3     MLC3SM2
MLC-32 3     Myosin Light Polypeptide 62
ESMLC2     Myosin Light Chain 33
LC17-GI2     Smooth Muscle And Nonmuscle Myosin Light Chain Alkali 63

External Ids:    HGNC: 75871   Entrez Gene: 46372   Ensembl: ENSG000000928417   OMIM: 6099315   UniProtKB: P606603   

Export aliases for MYL6 gene to outside databases

Previous GC identifers: GC12P056485 GC12M056741 GC12P056263 GC12P054832 GC12P054834 GC12P054838 GC12P053591


(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 MYL6 Gene:
Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable
alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light
chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several
pseudogenes have been described and two transcript variants encoding different isoforms have been identified for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYL6 Gene: 
MYL6 (myosin, light chain 6, alkali, smooth muscle and non-muscle) is a protein-coding gene. Diseases associated with MYL6 include rhabdomyosarcoma, and esophageal cancer, and among its related super-pathways are Immune response CCR3 signaling in eosinophils and Activation of cAMP-Dependent PKA. GO annotations related to this gene include structural constituent of muscle and calcium ion binding. An important paralog of this gene is MYL4.

UniProtKB/Swiss-Prot: MYL6_HUMAN, P60660
Function: Regulatory light chain of myosin. Does not bind calcium

summary for MYL6 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 MYL6 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYL6 gene promoter:
         SRF   SRF (504 AA)   HSF1 (long)   CUTL1   MIF-1   Tal-1beta   AREB6   HEN1   HSF1short   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYL6 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYL6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYL6


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

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.13

MYL6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056552:  view genomic region     (about GC identifiers)

Start:
56,551,945 bp from pter      End:
56,557,280 bp from pter
Size:
5,336 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: MYL6_HUMAN, P60660 (See protein sequence)
Recommended Name: Myosin light polypeptide 6  
Size: 151 amino acids; 16930 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Secondary accessions: P16475 P24572 P24573 Q12790 Q561V9 Q6IAZ0 Q6IPY5
Alternative splicing: 2 isoforms:  P60660-1, P16475-1   P60660-2, P24572-2   (Contains a phosphoserine at position 135)

Explore the universe of human proteins at neXtProt for MYL6: NX_P60660

Explore proteomics data for MYL6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P60660

  • MYL6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYL6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_066299.2  NP_524147.2  

    ENSEMBL proteins: 
     ENSP00000446955   ENSP00000446640   ENSP00000293422   ENSP00000301540   ENSP00000449086  
     ENSP00000446709   ENSP00000441750   ENSP00000446714   ENSP00000446721   ENSP00000446687  
     ENSP00000450116   ENSP00000448859   ENSP00000448101   ENSP00000448457  
    Reactome Protein details: P60660
    Human Recombinant Protein Products for MYL6: 
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    Novus Biologicals MYL6 Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for MYL6
    Cloud-Clone Corp. Proteins for MYL6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016459myosin complex TAS2304459
    GO:0016461unconventional myosin complex TAS2304459

    MYL6 for ontologies           About GeneDecksing



    MYL6 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for MYL6 
    Cloud-Clone Corp. CLIAs for MYL6


    (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

    2 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry P60660

    ProtoNet protein and cluster: P60660

    UniProtKB/Swiss-Prot: MYL6_HUMAN, P60660
    Similarity: Contains 3 EF-hand domains


    MYL6 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: MYL6_HUMAN, P60660
    Function: Regulatory light chain of myosin. Does not bind calcium

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS2304459
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0008307structural constituent of muscle IDA16953301
    GO:0030898actin-dependent ATPase activity ISS--
         
    MYL6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYL6:
     Decreased focal adhesion (FA)  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYL6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYL6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYL6 
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    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 MYL6 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    Inhibitory action of Lipoxins on neutrophil migration0.51
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin-mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    5Sema4D in semaphorin signaling
    Sema4D in semaphorin signaling0.89
    Semaphorin interactions0.41
    Sema4D induced cell migration and growth-cone collapse0.89

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 EMD Millipore Pathways for MYL6 (see all 7)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYL6 (see all 16)
        Activation of PKA through GPCR
    RhoA Pathway
    PKA Signaling
    Guidance Cues and Growth Cone Motility
    Antioxidant Action of Vitamin-C

    5/8 GeneGo (Thomson Reuters) Pathways for MYL6 (see all 8)
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Cell adhesion Integrin-mediated cell adhesion and migration
    Inhibitory action of Lipoxins on neutrophil migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    1 BioSystems Pathway for MYL6
        Focal Adhesion

    5/7        Reactome Pathways for MYL6 (see all 7)
        Developmental Biology
    Sema4D induced cell migration and growth-cone collapse
    Semaphorin interactions
    Smooth Muscle Contraction
    Muscle contraction


    1         Kegg Pathway  (Kegg details for MYL6):
        Vascular smooth muscle contraction


    MYL6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYL6

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

    5/85 Interacting proteins for MYL6 (P606601, 2, 3 ENSP000002934224) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHUKO151112, 3, ENSP000003594244MINT-48059 I2D: score=2 STRING: ENSP00000359424
    IKBKEQ141642, 3MINT-48122 I2D: score=3 
    IKBKGQ9Y6K92, 3MINT-48230 I2D: score=2 
    MAP3K3Q997592, 3MINT-48505 I2D: score=2 
    RIPK3Q9Y5722, 3MINT-49150 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS2304459
    GO:0007411axon guidance TAS--
    GO:0007519skeletal muscle tissue development TAS2304459
    GO:0030049muscle filament sliding TAS2304459

    MYL6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MYL6 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 MYL6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about MYL6

    (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 MYL6 gene (3 alternative transcripts): 
    NM_021019.4  NM_079423.3  NM_079425.1  

    Unigene Cluster for MYL6:

    Myosin, light chain 6, alkali, smooth muscle and non-muscle
    Hs.632717  [show with all ESTs]
    Unigene Representative Sequence: BM546656
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000550697(uc001sjw.2 uc001sjx.2 uc010sqe.2) ENST00000548580
    ENST00000550184 ENST00000552297 ENST00000293422 ENST00000348108 ENST00000549017
    ENST00000547703 ENST00000549566 ENST00000536128(uc010sqd.2) ENST00000547649
    ENST00000548725 ENST00000547408 ENST00000551589 ENST00000550639 ENST00000546630
    ENST00000549392 ENST00000548400
    miRNA
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    Additional mRNA sequence: 

    AB046613.1 AK301198.1 BC006781.2 BC017455.1 BC071661.1 BC093066.1 CR456839.1 CR457014.1 
    M22918.1 M22920.1 M31212.1 U02629.1 

    24/108 DOTS entries (see all 108):

    DT.95347289  DT.100864340  DT.91913654  DT.91959871  DT.100695392  DT.100869803  DT.95137345  DT.95137558 
    DT.92472009  DT.100060351  DT.95137407  DT.95137429  DT.100695397  DT.455782  DT.92472124  DT.95116117 
    DT.100695414  DT.100695407  DT.120745  DT.100060350  DT.95135830  DT.100695403  DT.121141248  DT.121141294 

    24/2991 AceView cDNA sequences (see all 2991):

    BU543258 BF886513 BM667532 BG656211 BU732030 CB069858 BM781838 BQ428575 
    CB177537 BM927197 AW450779 BU074813 BQ962498 CA388724 NM_079425 BG654960 
    BG036204 CF129543 BI831815 BM698416 BM314375 CA868438 CA428279 AW605435 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MYL6 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c
    SP1:                                                              -                 -                     
    SP2:                    -     -     -     -                       -     -     -     -                     
    SP3:                                      -                       -                                       
    SP4:                                      -                       -     -     -     -                     
    SP5:                                      -     -                 -     -     -     -                     


    ECgene alternative splicing isoforms for MYL6

    (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

    MYL6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTGAATG
    MYL6 Expression
    About this image


    See MYL6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYL6

    SOURCE GeneReport for Unigene cluster: Hs.632717
        SABiosciences Custom PCR Arrays for MYL6
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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 and fungi.

    Orthologs for MYL6 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myl61 , 5 myosin, light polypeptide 6, alkali, smooth muscle more1, 5 95.58(n)1
    100(a)1
      10 (76.75 cM)5
    179041  NM_010860.31  NP_034990.11 
     1284908615 
    lizard
    (Anolis carolinensis)
    Reptilia MYL66
    myosin, light chain 6, alkali, smooth muscle and n...
    93(a)
    1 ↔ 1
    2(93814860-93823920)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55162 Xenopus laevis transcribed sequence with moderate similarity more 78.21(n)    48052435 
    zebrafish
    (Danio rerio)
    Actinopterygii CB356795.12   -- 80.92(n)    CB356795.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mlc-c1 , 3 myosin ATPase3
    Myosin light chain cytoplasmic1
    53(a)3
    59.64(n)1
    55.78(a)1
      5A83
    314741  NM_078494.31  NP_511049.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T12D8.63
    mlc-51
    EF hand3
    Protein MLC-51
    47(a)3
    54.76(n)1
    49.29(a)1
      III(13694513-13695376)3
    1767961  NM_067412.51  NP_499813.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MLC16
    Essential light chain for Myo1p, light chain for M...
    36(a)
    1 → many
    VII(306560-307009)


    ENSEMBL Gene Tree for MYL6 (if available)
    TreeFam Gene Tree for MYL6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYL6 gene
    MYL42  MYL6B2  MYL12  MYL32  
    18/26 SIMAP similar genes for MYL6 using alignment to 13 protein entries:     MYL6_HUMAN (see all proteins) (see all similar genes):
    MYL1    MYL4    MYL3    MYL6B    CALM2    CALML3
    CALM1    CALM3    TNNC2    CABP5    CALML5    CETN1
    CETN2    CABP1    TNNC1    MYL2    CABP2    MYL10

    MYL6 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for MYL6
    PGOHUM00000238506 PGOHUM00000237502 PGOHUM00000239089 PGOHUM00000261329 PGOHUM00000261513


    (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

    10/206 SNPs in MYL6 are shown (see all 206)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487731011,2
    --56384382(+) GGTTGC/TGGTGA 2 -- us2k10--------
    rs2019531271,2
    C--56384440(+) AGTTT-/AAAAAA 2 -- us2k10--------
    rs1843882281,2
    --56384563(+) GGCAAC/TGTAGT 2 -- us2k10--------
    rs2003054281,2
    --56384584(+) CTCTA-/TTTAAA 2 -- us2k10--------
    rs2006215711,2
    --56384585(+) CTATT-/AATAAAA 2 -- us2k10--------
    rs566858631,2
    C--56384586(+) CTATTT/AAAAAA 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1879507261,2
    C--56384761(+) GTGCAC/TGCTTG 2 -- us2k10--------
    rs1130932921,2
    C--56384885(+) ATCTC-/AAAAAA 2 -- us2k11Minor allele frequency- A:0.00CSA 2
    rs1512807611,2
    --56385152(+) GGAGGC/TGGAGG 2 -- us2k10--------
    rs1400107861,2
    C--56385272(+) GGGAAA/GGGAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYL6 (56551945 - 56557280 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYL6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482992CNV Complex15286789

    SABiosciences Cancer Mutation PCR Assays
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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: 609931    OMIM disorders: --

    7 diseases for MYL6:    About MalaCards
    rhabdomyosarcoma    esophageal cancer    esophagitis    neuroblastoma
    squamous cell carcinoma    leukemia    breast cancer


    MYL6 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MYL6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 17131471 (1), 20416286 (1)


    Export disorders for MYL6 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 MYL6 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with MYL6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, sequencing, and characterization of smooth muscle myosin alkali light chain from human eye cDNA: homology with myocardial fatty acid ethyl ester synthase-III cDNA. (PubMed id 8188229)1, 2, 3 Bora P.S.... Lange L.G. (1994)
    2. Characterization of human myosin light chains 1sa and 3nm: implications for isoform evolution and function. (PubMed id 2304459)1, 2, 3 Hailstones D.L. and Gunning P.W. (1990)
    3. The alkali light chains of human smooth and nonmuscle myosins are encoded by a single gene. Tissue-specific expression by alternative splicing pathways. (PubMed id 2722814)1, 2, 3 Lenz S....Arnold H.H. (1989)
    4. 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. (2004)
    5. Molecular cloning and sequencing of myosin light chains in human megakaryoblastic leukemia cells. (PubMed id 11436981)1, 2 Watanabe M.... Higashihara M. (2001)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. The Identification of Novel Proteins That Interact Wit h the GLP-1 Receptor and Restrain its Activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (2013)
    8. A Proteomics Strategy for the Identification of FAT10- Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (2013)
    9. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (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: 4637 HGNC: 7587 AceView: MLC1SAandMYL6 Ensembl:ENSG00000092841 euGenes: HUgn4637
    ECgene: MYL6 Kegg: 4637 H-InvDB: MYL6

    (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 MYL6 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 MYL6 gene:
    Search GeneIP for patents involving MYL6

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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