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Myot
Gene Detail
Symbol

Name
ID
Myot
myotilin
MGI:1889800
Synonyms
5530402I04Rik, Ttid
Feature Type
protein coding gene
Genetic Map
Chromosome 18
23.74 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:44334074-44355724 bp, + strand
From VEGA annotation of GRCm38

  21651 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4942  Vertebrate Homology Class
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: Myot

Human
homologs
MYOT, myotilin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 9499
neXtProt AC: NX_Q9UBF9

Human Synonyms: LGMD1, LGMD1A, MFM3, TTID, TTOD

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

Disease Associations: (3) Diseases Associated with Human MYOT

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(4) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Mutations Annotated to Human Diseases (1)   
Interactions
Myot interacts with 126 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process biological_process
Component cytoplasm, cytoskeleton, ...
Function actin binding, alpha-actinin binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (111)    Tissues (46)    Images (40)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 102
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase myot    NEW 
Molecular
reagents
All nucleic(13) cDNA(13)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000014922 (Evidence)
Ensembl Gene Model ENSMUSG00000024471 (Evidence)
Entrez Gene 58916 (Evidence)
UniGene 143804
DFCI TC1581682
DoTS DT.60117963
NIA Mouse Gene Index U018687
Consensus CDS Project CCDS29228.1
International Mouse Phenotyping Consortium Status Myot
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014922 VEGA Gene Model | MGI Sequence Detail 21651 C57BL/6J ±  kb
transcript OTTMUST00000035442 VEGA | MGI Sequence Detail 2209 Not Applicable 
polypeptide OTTMUSP00000015858 VEGA | MGI Sequence Detail 496 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(8) UniProt(2)
Polymorphisms
SNPs within 2kb(223 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
Protein Ontology PR:000010881 myotilin
References
(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
All references(29)
Disease annotation references (1)
Other
accession IDs
MGI:1921762

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
06/23/2015
MGI 5.22
The Jackson Laboratory