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Myot Gene Detail
Summary
  • Symbol
    Myot
  • Name
    myotilin
  • Synonyms
    5530402I04Rik, Ttid
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889800
    NCBI Gene: 58916
  • Gene Overview
    MyGene.info: MYOT
Location & Maps
more
  • Sequence Map
    Chr18:44334074-44355724 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21651 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MYOT, myotilin
  • Vertebrate Orthologs
    12
  • Human Ortholog
    MYOT, myotilin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LGMD1, LGMD1A, MFM3, TTID, TTOD
  • Links
    NCBI Gene ID: 9499
    neXtProt AC: NX_Q9UBF9

  • Chr Location
    5q31; chr5:137867856-137887851 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4942
    1 human;1 mouse;3 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MYOT
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Myot mouse models; 3 with human MYOT associations

Human Disease Mouse Models
       Muscular Dystrophy, Limb-Girdle, Type 1A; LGMD1A   OMIM: 159000 View 1 model
       Myopathy, Myofibrillar, 3; MFM3   OMIM: 609200 View 1 model
Myopathy, Spheroid Body   OMIM: 182920 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    8 phenotypes from multigenic genotypes
    4 phenotype references
  • All Mutations and Alleles
    6
  • Targeted
    4
  • Transgenic
    2
  • Incidental Mutations
Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014922 VEGA Gene Model | MGI Sequence Detail 21651 C57BL/6J ±  kb
transcript OTTMUST00000035443 VEGA | MGI Sequence Detail 2087 Not Applicable  
polypeptide OTTMUSP00000015859 VEGA | MGI Sequence Detail 496 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    219 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 2
Other
Accession IDs
less
MGI:1921762
References
more
  • Summaries
    All 26
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 4
    Phenotypes 4
  • Earliest
    J:64352 Hauser MA, et al., Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory