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MYOT Gene

protein-coding   GIFtS: 57
GCID: GC05P137203

Myotilin

(Previous names: titin immunoglobulin domain protein (myotilin), limb-girdle...)
(Previous symbols: TTID, LGMD1A, LGMD1)
  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
myotilin1 2     57 KDa Cytoskeletal Protein2 3
TTID1 2 3     MFM32 5
LGMD11 2     TTOD2 5
LGMD1A1 2     Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant)1
Titin Immunoglobulin Domain Protein (Myotilin)1 2     Titin Immunoglobulin Domain Protein3
Myofibrillar Titin-Like Ig Domains Protein2 3     

External Ids:    HGNC: 123991   Entrez Gene: 94992   Ensembl: ENSG000001207297   OMIM: 6041035   UniProtKB: Q9UBF93   

Export aliases for MYOT gene to outside databases

Previous GC identifers: GC05P137232 GC05P137233 GC05P132395


(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 MYOT Gene:
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during
muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced
filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and
myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but
the full-length nature of some of these variants has not been determined.(provided by RefSeq, Oct 2008)

GeneCards Summary for MYOT Gene:
MYOT (myotilin) is a protein-coding gene. Diseases associated with MYOT include myotilinopathy, and cataract skeletal anomalies. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is MYPN.

UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9
Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril
assembly and stability at the Z lines in muscle cells

Gene Wiki entry for MYOT (Myotilin) 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_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYOT gene promoter:
         MEF-2   Meis-1b   C/EBPalpha   MEF-2A   POU2F1   POU2F1a   Meis-1a   aMEF-2   RSRFC4   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOT promoter sequence
   Search Chromatin IP Primers for MYOT

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


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.2

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P137203:  view genomic region     (about GC identifiers)

Start:
137,203,480 bp from pter      End:
137,223,540 bp from pter
Size:
20,061 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: MYOTI_HUMAN, Q9UBF9 (See protein sequence)
Recommended Name: Myotilin  
Size: 498 amino acids; 55395 Da
Subunit: Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region
of MYOZ1
2 PDB 3D structures from and Proteopedia for MYOT:
2KDG (3D)        2KKQ (3D)    
Secondary accessions: A0A4R6 B4DT79
Alternative splicing: 2 isoforms:  Q9UBF9-1   Q9UBF9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYOT: NX_Q9UBF9

Explore proteomics data for MYOT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129412.1  NP_006781.1  

    ENSEMBL proteins: 
     ENSP00000239926   ENSP00000391185   ENSP00000426281  

    MYOT Human Recombinant Protein Products:

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    Novus Biologicals MYOT Proteins
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q9UBF9

    ProtoNet protein and cluster: Q9UBF9

    UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9
    Similarity: Belongs to the myotilin/palladin family
    Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


    MYOT 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: MYOTI_HUMAN, Q9UBF9
    Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril
    assembly and stability at the Z lines in muscle cells

         Genatlas biochemistry entry for MYOT:
    myotilin,cytoskeletal protein,expressed in skeletal and cardiac muscle,colocalizing and interacting with
    alpha-actinin in the sarcomeric I bands,also expressed in the sarcolemmal membrane

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI11038172
    GO:0008307structural constituent of muscle TAS10958653
         
    MYOT for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Myot):
     no phenotypic analysis  normal 

    MYOT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myottm1.1Moza for MYOT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYOT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MYOT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYOT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MYOT

    miRNA
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    miRTarBase miRNAs that target MYOT:
    hsa-mir-335-5p (MIRT019225)

    Block miRNA regulation of human, mouse, rat MYOT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MYOT
    SwitchGear 3'UTR luciferase reporter plasmidMYOT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYOT

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    GenScript: all cDNA clones in your preferred vector (see all 2): MYOT (NM_006790)
    Sino Biological Human cDNA Clone for MYOT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOT

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


    (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 UniProtKB/Swiss-Prot
    MYOTI_HUMAN, Q9UBF9: Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line.
    Note=Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015629actin cytoskeleton TAS10369880
    GO:0030018Z disc IEA--
    GO:0042383sarcolemma IEA--

    MYOT 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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        Pathway & Disease-focused RT2 Profiler PCR Array including MYOT: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYOT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for MYOT (Q9UBF91, 3 ENSP000002399264) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FLNCQ143151, 3, ENSP000003271454EBI-296701,EBI-489954 I2D: score=3 STRING: ENSP00000327145
    LRP12Q9Y5613, ENSP000002766544I2D: score=2 STRING: ENSP00000276654
    ST7Q9NRC13, ENSP000002654374I2D: score=1 STRING: ENSP00000265437
    TRIM63Q969Q13, ENSP000003633904I2D: score=1 STRING: ENSP00000363390
    ACTN1P128143, ENSP000003779414I2D: score=1 STRING: ENSP00000377941
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS10958653

    MYOT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MYOT (MYOTI)



    (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 MYOT gene (2 alternative transcripts): 
    NM_001135940.1  NM_006790.2  

    Unigene Cluster for MYOT:

    Myotilin
    Hs.84665  [show with all ESTs]
    Unigene Representative Sequence: NM_006790
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000239926(uc011cye.2 uc003lbv.3 uc011cyg.2 uc011cyh.2)
    ENST00000421631 ENST00000511625 ENST00000509812 ENST00000515645 ENST00000511254
    ENST00000503748 ENST00000508938
    miRNA
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    Block miRNA regulation of human, mouse, rat MYOT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MYOT
    SwitchGear 3'UTR luciferase reporter plasmidMYOT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYOT
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    GenScript: all cDNA clones in your preferred vector (see all 2): MYOT (NM_006790)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOT
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MYOT
      QuantiTect SYBR Green Assays in human, mouse, rat MYOT
      QuantiFast Probe-based Assays in human, mouse, rat MYOT

    Additional mRNA sequence: 

    AF133820.2 AF144477.1 AK300076.1 AK300088.1 AK307620.1 AK312733.1 BC005376.1 

    13 DOTS entries:

    DT.412887  DT.100780927  DT.92447848  DT.92447832  DT.95378067  DT.95378049  DT.75125778  DT.91733797 
    DT.95106212  DT.92447847  DT.95288332  DT.101964815  DT.92447830 

    Selected AceView cDNA sequences (see all 164):

    BF126327 F30875 BF589170 AI554082 BQ719314 Z28788 AA194693 AF144477 
    BF791242 AW016729 AI675624 AF133820 BF436949 AA780078 BC005376 NM_006790 
    AI375478 AA180042 F35978 BF574365 CB051042 CD678591 BF126301 AA086281 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYOT (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                                            -           -     -                                                                     
    SP2:                          -     -     -     -     -     -     -     -     -     -     -                                             
    SP3:                    -     -                 -           -     -                                                                     
    SP4:                                                                                                                                    
    SP5:                                            -                                                                                       


    ECgene alternative splicing isoforms for MYOT

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


    MYOT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thyroid (Endocrine System)
    MYOT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYOT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84665

    UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9
    Tissue specificity: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone
    marrow and thyroid gland

        Pathway & Disease-focused RT2 Profiler PCR Array including MYOT: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MYOT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOT

    (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 chordates.

    Orthologs for MYOT gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myot1 , 5 myotilin1, 5 87.23(n)1
    89.72(a)1
      18 (23.74 cM)5
    589161  NM_001033621.31  NP_001028793.11 
     443340745 
    chicken
    (Gallus gallus)
    Aves MYOT1 myotilin 70.57(n)
    67.28(a)
      416299  XM_414618.4  XP_414618.4 
    lizard
    (Anolis carolinensis)
    Reptilia MYOT6
    myotilin
    64(a)
    1 ↔ 1
    2(142280084-142343947)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.186722 Xenopus laevis transcribed sequence with weak similarity more 73.72(n)    BX843718.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003298621 myotilin-like 51.55(n)
    43.82(a)
      100329862  XM_002664328.3  XP_002664374.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYOT gene
    MYPN2  PALLD2  OBSL12  
    6 SIMAP similar genes for MYOT using alignment to 2 protein entries:     MYOTI_HUMAN (see all proteins):
    KIAA0992    DKFZp586L0518    PALLD    MYLK    MYPN    FGFR3

    MYOT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYOT (see all 423)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375971,2,,4
    CLimb-girdle muscular dystrophy 1A (LGMD1A)4 pathogenic1137482336(+) CTCAAC/TACTGA 3 T I mis1 int1 ese30--------
    VAR_0295324
    Spheroid body myopathy (SBM)4--see VAR_0295322 S F mis40--------
    VAR_0215714
    Myopathy, myofibrillar, 3 (MFM3)4--see VAR_0215712 S C mis40--------
    VAR_0215724
    Myopathy, myofibrillar, 3 (MFM3)4--see VAR_0215722 S F mis40--------
    VAR_0215734
    Myopathy, myofibrillar, 3 (MFM3)4--see VAR_0215732 S I mis40--------
    VAR_0355204
    A colorectal cancer sample4--see VAR_0355202 S I mis40--------
    VAR_0215694
    Myopathy, myofibrillar, 3 (MFM3)4--see VAR_0215692 S F mis40--------
    rs1219084581,2
    Cpathogenic1137482345(+) GAGCTC/G/TTCACA 4 S C F mis1 int10--------
    rs353018041,2
    C--137206016(+) ACACA-/AC/CA/C
    ACA
    /CACACA
    AAAGG
    4 -- int1 cds11NA 2
    rs354177741,2
    C--137208912(+) AAAAA-/A/AA  
            
    CAGTA
    2 -- int11NA 2

    HapMap Linkage Disequilibrium report for MYOT (137203480 - 137223540 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYOT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830501CNV Gain17160897

    Human Gene Mutation Database (HGMD): MYOT
    Locus Specific Mutation Databases (LSDB): MYOT

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 604103   
    OMIM disorders: 159000  609200  182920  
    UniProtKB/Swiss-Prot: MYOTI_HUMAN, Q9UBF9
  • Limb-girdle muscular dystrophy 1A (LGMD1A) [MIM:159000]: An autosomal dominant degenerative myopathy with
    onset within a mean age of 28 years. Characterized by progressive skeletal muscle weakness of the hip and
    shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of
    speech. Affected muscle exhibits disorganization and streaming of the Z-line. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A neuromuscular disorder characterized by progressive
    skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and
    peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line,
    presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins
    and prominent congophilic deposits. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM),
    characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of
    cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for MYOT (see all 26):    
    About MalaCards
    myotilinopathy    cataract skeletal anomalies    spheroid body myopathy    limb-girdle muscular dystrophies, autosomal dominant
    myopathy, myofibrillar, 3    myofibrillar myopathy    limb-girdle muscular dystrophy, type 1a    zaspopathy
    limb-girdle muscular dystrophy    neuromuscular disease    nemaline myopathy    treacher collins syndrome
    muscular dystrophy    myopathy congenital    myopathy    pharyngitis
    congenital muscular dystrophy    cataract    peripheral neuropathy    dilated cardiomyopathy

    2 diseases from the University of Copenhagen DISEASES database for MYOT:
    Myopathy     Neuropathy

    MYOT for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MYOT gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd1a 97.7 16 11335118 (3), 18335471 (3), 12428213 (2), 12899871 (1) (see all 10)
    spheroid body myopathy 95.1 3 16380616 (2), 16801328 (1)
    lgmd2g 88.9 3 15316618 (1), 12379311 (1)
    limb girdle 88.8 8 19458539 (2), 10958653 (1), 16076904 (1), 17056257 (1) (see all 6)
    distal myopathies 88.6 7 16674563 (2), 19458539 (2), 19027924 (1)
    myopathy 87.2 31 19458539 (2), 15752755 (2), 17005401 (1), 19047374 (1) (see all 23)
    muscular dystrophy limb-girdle 86.6 8 10369880 (1), 12899871 (1), 15947064 (1), 12499399 (1) (see all 8)
    muscular dystrophies 80.9 10 19458539 (2), 10958653 (1), 16076904 (1), 17056257 (1) (see all 7)
    myopathies nemaline 79.4 6 12899871 (4)
    lgmd2b 74.3 1 15316618 (1)

    GeneTests: MYOT
    GeneReviews: MYOT
    Genetic Association Database (GAD): MYOT
    Human Genome Epidemiology (HuGE) Navigator: MYOT (3 documents)

    Export disorders for MYOT 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 MYOT gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with MYOT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TTID: a novel gene at 5q31 encoding a protein with titin-like features. (PubMed id 10486214)1, 2, 3, 9 Godley L.A.... Le Beau M.M. (Genomics 1999)
    2. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. (PubMed id 10369880)1, 2, 3, 9 Salmikangas P....Carpen O. (Hum. Mol. Genet. 1999)
    3. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. (PubMed id 12499399)1, 2, 9 Salmikangas P....Carpen O. (Hum. Mol. Genet. 2003)
    4. Solution structure of the first immunoglobulin domain of human myotilin. (PubMed id 19418025)1, 2, 9 Heikkinen O....Kilpelaeinen I. (J. Biomol. NMR 2009)
    5. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904)1, 2, 9 Gontier Y.... Borradori L. (J. Cell Sci. 2005)
    6. A mutation in myotilin causes spheroid body myopathy. (PubMed id 16380616)1, 2, 9 Foroud T.... Nichols W.C. (Neurology 2005)
    7. Myotilin mutation found in second pedigree with LGMD1A. (PubMed id 12428213)1, 2, 9 Hauser M.A.... Rosa A.L. (Am. J. Hum. Genet. 2002)
    8. Mutations in myotilin cause myofibrillar myopathy. (PubMed id 15111675)1, 2, 9 Selcen D. and Engel A.G. (Neurology 2004)
    9. Myotilin is mutated in limb girdle muscular dystrophy 1A. (PubMed id 10958653)1, 2, 9 Hauser M.A.... Speer M.C. (Hum. Mol. Genet. 2000)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (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: 9499 HGNC: 12399 AceView: TTID Ensembl:ENSG00000120729 euGenes: HUgn9499
    ECgene: MYOT H-InvDB: MYOT

    (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 MYOT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYOT[genesymbol]

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

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



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