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

MYL3 Gene

protein-coding   GIFtS: 70
GCID: GC03M046899

Myosin, Light Chain 3, Alkali; Ventricular, Skeletal, Slow

(Previous names: myosin, light polypeptide 3, alkali; ventricular, skeletal,...)
  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 3, Alkali; Ventricular, Skeletal, Slow1 2     MLC1SB2 3
Myosin, Light Polypeptide 3, Alkali; Ventricular, Skeletal, Slow1 2     CMH82 5
Cardiac Myosin Light Chain 12 3     MLC1V2
Myosin Light Chain 1, Slow-Twitch Muscle B/Ventricular Isoform2 3     VLC12
Ventricular/Slow Twitch Myosin Alkali Light Chain2 3     Myosin Light Chain 32
CMLC12 3     

External Ids:    HGNC: 75841   Entrez Gene: 46342   Ensembl: ENSG000001608087   OMIM: 1607905   UniProtKB: P085903   

Export aliases for MYL3 gene to outside databases

Previous GC identifers: GC03P046253 GC03P046130 GC03M046696 GC03M046859 GC03M046874


(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 MYL3 Gene:
MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the
ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of
mid-left ventricular chamber type hypertrophic cardiomyopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYL3 Gene: 
MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow) is a protein-coding gene. Diseases associated with MYL3 include cardiomyopathy, familial hypertrophic, 8, and myl3-related familial hypertrophic cardiomyopathy, and among its related super-pathways are Striated 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 MYL4.

UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590
Function: Regulatory light chain of myosin. Does not bind calcium

summary for MYL3 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 MYL3 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_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYL3 gene promoter:
         CREB   PPAR-gamma1   p53   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYL3


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

Entrez Gene cytogenetic band: 3p21.3-p21.2   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p

MYL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M046899:  view genomic region     (about GC identifiers)

Start:
46,899,357 bp from pter      End:
46,923,659 bp from pter
Size:
24,303 bases      Orientation:
minus 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: MYL3_HUMAN, P08590 (See protein sequence)
Recommended Name: Myosin light chain 3  
Size: 195 amino acids; 21932 Da
Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains
Secondary accessions: B2R534 Q9NRS8

Explore the universe of human proteins at neXtProt for MYL3: NX_P08590

Explore proteomics data for MYL3 at MOPED 

Post-translational modifications:

  • UniProtKB: The N-terminus is blocked
  • UniProtKB: N-terminus is methylated by METTL11A/NTM1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08590

  • MYL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYL3 Protein Expression
    REFSEQ proteins: NP_000249.1  
    ENSEMBL proteins: 
     ENSP00000379210   ENSP00000292327   ENSP00000393455  
    Reactome Protein details: P08590
    Human Recombinant Protein Products for MYL3: 
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    Cloud-Clone Corp. Proteins for MYL3 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005859muscle myosin complex TAS2789520
    GO:0016459myosin complex ----
    GO:0030017sarcomere TAS16754800
    GO:0031672A band IDA16675844

    MYL3 for ontologies           About GeneDecksing



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    (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 P08590

    ProtoNet protein and cluster: P08590

    UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590
    Similarity: Contains 3 EF-hand domains


    MYL3 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: MYL3_HUMAN, P08590
    Function: Regulatory light chain of myosin. Does not bind calcium

         Genatlas biochemistry entry for MYL3:
    myosin,light polypeptide 3,alkali,essential,ventricular,skeletal,slow,same as MLC1-SB & MLC1-V

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003785actin monomer binding IDA16675844
    GO:0005509calcium ion binding IEA--
    GO:0008307structural constituent of muscle TAS2789520
    GO:0032038myosin II heavy chain binding NAS16675844
         
    MYL3 for ontologies           About GeneDecksing


    Animal Models:
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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 MYL3 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.87
    Muscle contraction0.65
    Striated Muscle Contraction0.87
    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

    5/7 EMD Millipore Pathways for MYL3 (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 MYL3 (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 MYL3 (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

    2 BioSystems Pathways for MYL3
        Regulation of Actin Cytoskeleton
    Striated Muscle Contraction


    2        Reactome Pathways for MYL3
        Muscle contraction
    Striated Muscle Contraction


    3         Kegg Pathways  (Kegg details for MYL3):
        Cardiac muscle contraction
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy


    MYL3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYL3

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

    5/126 Interacting proteins for MYL3 (P085902, 3 ENSP000002923274) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    MYH13Q9UKX32, ENSP000002521724MINT-7899812 MINT-7900157 STRING: ENSP00000252172
    YWHAZP631042, ENSP000003095034MINT-7899812 MINT-7900157 STRING: ENSP00000309503
    MYH9P355792, ENSP000002161814MINT-7899812 MINT-7900157 STRING: ENSP00000216181
    MYH7P128832, ENSP000003475074MINT-7899812 MINT-7900157 STRING: ENSP00000347507
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction IMP16675844
    GO:0006942regulation of striated muscle contraction IMP16675844
    GO:0007519skeletal muscle tissue development IEA--
    GO:0030049muscle filament sliding TAS--
    GO:0032781positive regulation of ATPase activity ISS16675844

    MYL3 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

    MYL3 for compounds           About GeneDecksing

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

    Compounds for MYL3 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 MYL3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for MYL3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 31.8 6 15067515 (1), 7866607 (1), 7704948 (1)

    Search CenterWatch for drugs/clinical trials and news about MYL3

    (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 MYL3 gene: 
    NM_000258.2  

    Unigene Cluster for MYL3:

    Myosin, light chain 3, alkali; ventricular, skeletal, slow
    Hs.517939  [show with all ESTs]
    Unigene Representative Sequence: BC009790
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395869 ENST00000292327(uc003cql.1) ENST00000431168
    miRNA
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    Additional mRNA sequence: 

    AF174483.1 AK312044.1 BC009790.1 M24122.1 X07373.1 

    9 DOTS entries:

    DT.319748  DT.101985513  DT.101985514  DT.92422207  DT.100814176  DT.92422204  DT.95338064  DT.100814172 
    DT.92422209 

    24/425 AceView cDNA sequences (see all 425):

    BI818850 C05446 F22592 AJ571910 F23440 CF552959 C05486 AI313433 
    AI370949 AJ708945 C05216 F31045 F19134 F31599 F31266 F25146 
    AJ708972 F28209 AJ573065 AJ572410 BX500406 AJ573201 F26941 C05640 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MYL3    About this scheme

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


    ECgene alternative splicing isoforms for MYL3

    (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

    MYL3 expression in normal human tissues (normalized intensities)      MYL3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYL3 Expression
    About this image


    MYL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Cardiomyocytes Left Ventricle
             Heart Tube
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             heart muscle ; myocytes   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 9 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
             skeletal muscle ; myocytes   
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Smooth Muscle (Muscoskeletal System)
             smooth muscle ; smooth muscle cells   

    See MYL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYL3

    SOURCE GeneReport for Unigene cluster: Hs.517939
        SABiosciences Expression via Pathway-Focused PCR Array including MYL3: 
              Cell Lineage Identification in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL3

    (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 MYL3 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 Myl31 , 5 myosin, light polypeptide 31, 5 90.94(n)1
    95.9(a)1
      9 (60.69 cM)5
    178971  NM_010859.21  NP_034989.11 
     1107636465 
    chicken
    (Gallus gallus)
    Aves MYL31 myosin, light chain 3, alkali; ventricular, skeletal, more 75.52(n)
    82.81(a)
      396067  NM_205159.1  NP_990490.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYL36
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343449.1(195133-232310)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc662862 hypothetical protein MGC66286 76.04(n)   393488  AF434191.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mlc-c3 myosin ATPase 48(a)   5A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea T12D8.63 EF hand 46(a)   III(13694513-13695376)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MLC16
    Essential light chain for Myo1p, light chain for M...
    34(a)
    1 → many
    VII(306560-307009)


    ENSEMBL Gene Tree for MYL3 (if available)
    TreeFam Gene Tree for MYL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYL3 gene
    MYL42  MYL6B2  MYL12  MYL62  
    10 SIMAP similar genes for MYL3 using alignment to 3 protein entries:     MYL3_HUMAN (see all proteins):
    MYL6    MYL4    MYL1    MYL6B    CALML3    CALM1
    CALM2    CALM3    TNNC2    TNNC1

    MYL3 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) 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

    10/199 SNPs in MYL3 are shown (see all 199)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0045994
    Cardiomyopathy, familial hypertrophic 8 (CMH8)4--see VAR_0045992 M V mis40--------
    VAR_0198424
    Cardiomyopathy, familial hypertrophic 8 (CMH8)4--see VAR_0198422 E G mis40--------
    VAR_0046004
    Cardiomyopathy, familial hypertrophic 8 (CMH8)4--see VAR_0046002 R H mis40--------
    VAR_0198434
    Cardiomyopathy, familial hypertrophic 8 (CMH8)4--see VAR_0198432 E K mis40--------
    rs1048937501,2
    Cpathogenic185591199(-) ACAAGA/GAGGGC 2 K E mis10--------
    rs1048937481,2
    Cpathogenic185591217(-) CTGTCA/GTGGGT 2 M V mis10--------
    rs1048937491,2
    Cpathogenic185591233(-) GCTTCA/GCCACG 2 H R mis10--------
    rs1939223911,2
    Cprobable-pathogenic185592315(-) GCAAGA/GGGACT 2 E G mis10--------
    rs1397940671,2
    Cuntested185589915(+) TGAAGA/C/GCTTCC 2 A G mis11NA 4550
    rs1116175561,2
    Cuntested185592265(+) TCACCC/TGGCAG 1 -- spa10--------

    HapMap Linkage Disequilibrium report for MYL3 (46899357 - 46923659 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MYL3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508915CNV Insertion20534489
    dgv5130n71CNV Loss21882294
    nsv876755CNV Loss21882294
    nsv428417CNV Loss18775914
    nsv876754CNV Gain21882294
    essv8614CNV CNV17122850
    dgv1455e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): MYL3

    Locus Specific Mutation Databases (LSDB): MYL3
    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: 160790   
    OMIM disorders: 608751  
    UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590
  • Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: A hereditary heart disorder characterized by
    ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms
    include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The
    disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of
    cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic
    cardiomyopathy, characterized by mid-left ventricular chamber thickening. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for MYL3:    About MalaCards
    cardiomyopathy, familial hypertrophic, 8    myl3-related familial hypertrophic cardiomyopathy    restrictive cardiomyopathy    hypertrophic cardiomyopathy
    familial hypertrophic cardiomyopathy    acute myocardial infarction    congestive heart failure    syncope
    myocardial infarction    dilated cardiomyopathy    myopathy    diabetes mellitus

    1 disease from the University of Copenhagen DISEASES database for MYL3:
    Hypertrophic cardiomyopathy

    MYL3 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MYL3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acute myocardial infarction 47.6 3 8254402 (1), 7988046 (1), 7704948 (1)
    myocardial infarction 24.9 1 8254402 (1)
    renal failure 14.9 1 1507479 (1)

    GeneTests: MYL3
    GeneReviews: MYL3
    Genetic Association Database (GAD): MYL3
    Human Genome Epidemiology (HuGE) Navigator: MYL3 (15 documents)

    Export disorders for MYL3 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 MYL3 gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with MYL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PubMed id 12404107)1, 4, 9 Kabaeva Z.T.... Osterziel K.J. (2002)
    2. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. (PubMed id 19293840)1, 4, 9 MA...ber L. (2009)
    3. Clinical features and outcome of hypertrophic cardiom yopathy associated with triple sarcomere protein gene mutations. (PubMed id 20359594)1, 4 Girolami F....Olivotto I. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Prevalence of sarcomere protein gene mutations in pre adolescent children with hypertrophic cardiomyopathy. (PubMed id 20031618)1, 4 Kaski J.P....Elliott P.M. (2009)
    6. Histologic characterization of hypertrophic cardiomyo pathy with and without myofilament mutations. (PubMed id 19853701)1, 4 McLeod C.J....Ackerman M.J. (2009)
    7. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4 Morita H.... Seidman C.E. (2008)
    8. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy. (PubMed id 18513529)1, 4 Bos J.M....Ackerman M.J. (2008)
    9. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. (PubMed id 16754800)1, 4 Morita H....Benjamin E.J. (2006)
    10. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 4 Ingles J.... Semsarian C. (2005)

    (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: 4634 HGNC: 7584 AceView: MYL3 Ensembl:ENSG00000160808 euGenes: HUgn4634
    ECgene: MYL3 Kegg: 4634 H-InvDB: MYL3

    (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 MYL3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYL3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYL3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYL3 gene:
    Search GeneIP for patents involving MYL3

    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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