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Aliases for MYOT Gene

Aliases for MYOT Gene

  • Myotilin 2 3 3 5
  • Titin Immunoglobulin Domain Protein (Myotilin) 2 3
  • Myofibrillar Titin-Like Ig Domains Protein 3 4
  • 57 KDa Cytoskeletal Protein 3 4
  • TTID 3 4
  • Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant) 2
  • Titin Immunoglobulin Domain Protein 4
  • LGMD1A 3
  • LGMD1 3
  • MFM3 3
  • TTOD 3

External Ids for MYOT Gene

Previous HGNC Symbols for MYOT Gene

  • TTID
  • LGMD1A
  • LGMD1

Previous GeneCards Identifiers for MYOT Gene

  • GC05P137232
  • GC05P137233
  • GC05P137203
  • GC05P132395

Summaries for MYOT Gene

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 Myopathy, Myofibrillar, 3 and Muscular Dystrophy, Limb-Girdle, Type 1A. Gene Ontology (GO) annotations related to this gene include actin binding and alpha-actinin binding. An important paralog of this gene is MYPN.

UniProtKB/Swiss-Prot for MYOT Gene

  • 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 Gene

Additional gene information for MYOT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOT Gene

Genomics for MYOT Gene

GeneHancer (GH) Regulatory Elements for MYOT Gene

Promoters and enhancers for MYOT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I137867 Promoter/Enhancer 0.9 EPDnew dbSUPER 550.8 +0.1 50 0.1 PKNOX1 MYNN MYOT PKD2L2 LOC101928005
GH05I137833 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -31.6 -31575 5.9 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ATF7 FOS KLF13 SP3 CDC23 KDM3B MYOT FAM13B BRD8 HNRNPA0 RNU6-1148P KLHL3 PKD2L2 GC05M137818
GH05I137890 Enhancer 0.9 ENCODE dbSUPER 14.4 +23.1 23121 1.2 MEIS2 TFAP4 FOXA2 ZNF280D ZNF384 PPARG RARA FOXA1 ZNF217 MLLT1 LOC101928005 MYOT RNU6-1148P PKD2L2 GC05P137937
GH05I137997 Enhancer 1.2 FANTOM5 ENCODE 9.9 +130.3 130343 1.2 FOXA2 ARNT NFRKB BATF KLF5 IRF4 ZBTB40 TCF12 POLR2B ZNF766 RNU6-1148P MYOT FAM13B GC05P137994 GC05P137995 LOC100130172
GH05I137999 Enhancer 1.1 Ensembl ENCODE 9.9 +132.6 132601 1.9 HDAC1 PKNOX1 ATF1 RARA ZNF766 EGR1 SCRT2 FOS ATF7 ZBTB11 RNU6-1148P MYOT FAM13B GC05P137995 GC05P137994 LOC100130172
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYOT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYOT gene promoter:

Genomic Locations for MYOT Gene

Genomic Locations for MYOT Gene
20,061 bases
Plus strand

Genomic View for MYOT Gene

Genes around MYOT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOT Gene

Proteins for MYOT Gene

  • Protein details for MYOT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0A4R6
    • B4DT79

    Protein attributes for MYOT Gene

    498 amino acids
    Molecular mass:
    55395 Da
    Quaternary structure:
    • Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1.

    Three dimensional structures from OCA and Proteopedia for MYOT Gene

    Alternative splice isoforms for MYOT Gene


neXtProt entry for MYOT Gene

Post-translational modifications for MYOT Gene

No Post-translational modifications

Other Protein References for MYOT Gene

No data available for DME Specific Peptides for MYOT Gene

Domains & Families for MYOT Gene

Gene Families for MYOT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MYOT Gene

Suggested Antigen Peptide Sequences for MYOT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the myotilin/palladin family.
  • Belongs to the myotilin/palladin family.
genes like me logo Genes that share domains with MYOT: view

Function for MYOT Gene

Molecular function for MYOT Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MYOT Gene

Gene Ontology (GO) - Molecular Function for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11038172
GO:0008307 structural constituent of muscle TAS 10958653
GO:0051393 alpha-actinin binding IDA 10958653
genes like me logo Genes that share ontologies with MYOT: view
genes like me logo Genes that share phenotypes with MYOT: view

Human Phenotype Ontology for MYOT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYOT Gene

MGI Knock Outs for MYOT:

Animal Model Products

miRNA for MYOT Gene

miRTarBase miRNAs that target MYOT

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYOT Gene

Localization for MYOT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOT Gene

Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269 PubMed:10369880, ECO:0000269 PubMed:16076904}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOT gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0015629 actin cytoskeleton TAS 10369880
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MYOT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOT Gene

Pathways & Interactions for MYOT Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10958653
genes like me logo Genes that share ontologies with MYOT: view

No data available for Pathways by source and SIGNOR curated interactions for MYOT Gene

Drugs & Compounds for MYOT Gene

No Compound Related Data Available

Transcripts for MYOT Gene

Unigene Clusters for MYOT Gene

Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYOT Gene

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: - - - - -
SP5: -
SP6: - - - - -
SP7: - -
SP8: - -

Relevant External Links for MYOT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MYOT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYOT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOT Gene

This gene is overexpressed in Muscle - Skeletal (x44.9).

Protein differential expression in normal tissues from HIPED for MYOT Gene

This gene is overexpressed in Tonsil (34.5) and Esophagus (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYOT Gene

Protein tissue co-expression partners for MYOT Gene

NURSA nuclear receptor signaling pathways regulating expression of MYOT Gene:


SOURCE GeneReport for Unigene cluster for MYOT Gene:


mRNA Expression by UniProt/SwissProt for MYOT Gene:

Tissue specificity: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.

Evidence on tissue expression from TISSUES for MYOT Gene

  • Muscle(4.9)
  • Bone marrow(4.1)
  • Liver(4)
  • Heart(3.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • vocal cord
  • clavicle
  • esophagus
  • heart
  • heart valve
  • scapula
  • stomach
  • pelvis
  • arm
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • upper limb
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYOT: view

Primer Products

Orthologs for MYOT Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MYOT 33 34
  • 99.65 (n)
(Canis familiaris)
Mammalia MYOT 33 34
  • 92.7 (n)
(Bos Taurus)
Mammalia MYOT 33 34
  • 92.3 (n)
(Rattus norvegicus)
Mammalia Myot 33
  • 87.84 (n)
(Mus musculus)
Mammalia Myot 33 16 34
  • 87.23 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
-- 34
  • 3 (a)
(Ornithorhynchus anatinus)
Mammalia MYOT 34
  • 81 (a)
(Gallus gallus)
Aves MYOT 33
  • 70.57 (n)
  • 2 (a)
(Anolis carolinensis)
Reptilia MYOT 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia myot 33
  • 59.66 (n)
Str.3561 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18672 33
(Danio rerio)
Actinopterygii LOC100329862 33
  • 51.55 (n)
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4426 34
  • 22 (a)
Species where no ortholog for MYOT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOT Gene

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

Paralogs for MYOT Gene

Paralogs for MYOT Gene

(6) SIMAP similar genes for MYOT Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MYOT: view

Variants for MYOT Gene

Sequence variations from dbSNP and Humsavar for MYOT Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1014138812 uncertain-significance, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Spheroid body myopathy 137,887,552(+) A/G 3_prime_UTR_variant
rs114194130 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Spheroid body myopathy, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant 137,870,994(+) G/A/C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs116773838 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Spheroid body myopathy, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Myotilinopathy, Limb-girdle muscular dystrophy, type 1A 137,882,069(+) G/A coding_sequence_variant, synonymous_variant
rs121908457 pathogenic, likely-pathogenic, Limb-girdle muscular dystrophy, type 1A, Myotilinopathy, Progressive distal muscle weakness, Progressive proximal muscle weakness 137,870,815(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs121908458 pathogenic, Myotilinopathy, Myofibrillar myopathy 137,870,830(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MYOT Gene

Variant ID Type Subtype PubMed ID
esv3606912 CNV gain 21293372
esv3606913 CNV gain 21293372
nsv830501 CNV gain 17160897

Variation tolerance for MYOT Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOT Gene

Disorders for MYOT Gene

MalaCards: The human disease database

(25) MalaCards diseases for MYOT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 3
  • mfm3
muscular dystrophy, limb-girdle, type 1a
  • lgmd1a
myopathy, spheroid body
  • spheroid body myopathy
myofibrillar myopathy
  • myopathy, myofibrillar, desmin-related
limb-girdle muscular dystrophy
  • lgmd
- elite association - COSMIC cancer census association via MalaCards
Search MYOT in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:10958653, ECO:0000269 PubMed:12428213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is 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. {ECO:0000269 PubMed:15111675}. 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. {ECO:0000269 PubMed:16380616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYOT

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYOT: view

No data available for Genatlas for MYOT Gene

Publications for MYOT Gene

  1. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. (PMID: 10369880) Salmikangas P … Carpén O (Human molecular genetics 1999) 2 3 4 22 58
  2. TTID: A novel gene at 5q31 encoding a protein with titin-like features. (PMID: 10486214) Godley LA … Le Beau MM (Genomics 1999) 2 3 4 22 58
  3. Solution structure of the first immunoglobulin domain of human myotilin. (PMID: 19418025) Heikkinen O … Kilpeläinen I (Journal of biomolecular NMR 2009) 3 4 22 58
  4. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PMID: 16076904) Gontier Y … Borradori L (Journal of cell science 2005) 3 4 22 58
  5. A mutation in myotilin causes spheroid body myopathy. (PMID: 16380616) Foroud T … Nichols WC (Neurology 2005) 3 4 22 58

Products for MYOT Gene

  • Addgene plasmids for MYOT
  • Addgene plasmids for MYOT

Sources for MYOT Gene

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