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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:44467141-44488791 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 23.74 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    783 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889800
 protein coding gene Chr18:44467126-44488795 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024399
 protein coding gene Chr18:43075948-43095854 (+)
A/J MGP_AJ_G0024366
 protein coding gene Chr18:41539776-41559920 (+)
AKR/J MGP_AKRJ_G0024335
 protein coding gene Chr18:42707819-42733149 (+)
BALB/cJ MGP_BALBcJ_G0024366
 protein coding gene Chr18:41626955-41649358 (+)
C3H/HeJ MGP_C3HHeJ_G0024133
 protein coding gene Chr18:42734093-42761209 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024810
 protein coding gene Chr18:44569946-44594541 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022245
 protein coding gene Chr18:41327868-41350134 (+)
CAST/EiJ MGP_CASTEiJ_G0023607
 protein coding gene Chr18:42733029-42756494 (+)
CBA/J MGP_CBAJ_G0024102
 protein coding gene Chr18:45784103-45814685 (+)
DBA/2J MGP_DBA2J_G0024232
 protein coding gene Chr18:41153968-41181027 (+)
FVB/NJ MGP_FVBNJ_G0024198
 protein coding gene Chr18:40753351-40774973 (+)
LP/J MGP_LPJ_G0024316
 protein coding gene Chr18:43103220-43124744 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024229
 protein coding gene Chr18:47153945-47180319 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024857
 protein coding gene Chr18:42572945-42602590 (+)
PWK/PhJ MGP_PWKPhJ_G0023351
 protein coding gene Chr18:41344565-41366497 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023156
 protein coding gene Chr18:42808243-42832382 (+)
WSB/EiJ MGP_WSBEiJ_G0023670
 protein coding gene Chr18:42500692-42527475 (+)



Homology
more
  • Human Ortholog
    MYOT, myotilin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYOT, myotilin
  • Synonyms
    LGMD1, LGMD1A, MFM3, TTID, TTOD
  • Links
    NCBI Gene ID: 9499
    neXtProt AC: NX_Q9UBF9
    UniProt: Q9UBF9

  • Chr Location
    5q31.2; chr5:137867858-137887851 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human MYOT associations

Human Disease Mouse Models
      
IDs
IDs
 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    4 phenotype references
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
less
  • All GO Annotations
    12
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    819
  • Tissues
    47
  • cDNA Data
    14
  • Literature Summary
    5
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024471 Ensembl Gene Model | MGI Sequence Detail 21651 C57BL/6J ±  kb
transcript ENSMUST00000025349 Ensembl | MGI Sequence Detail 2209 Not Applicable  
polypeptide ENSMUSP00000025349 Ensembl | MGI Sequence Detail 496 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:1921762
References
more
  • Summaries
    All 32
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 6
    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:305082 Pathak P, et al., Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCalpha and TSC2-mTOR downregulation. Commun Biol. 2021 Mar 19;4(1):355
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory