Aliases for MYOT Gene
Aliases for MYOT Gene
External Ids for MYOT Gene
- HGNC: 12399
- Entrez Gene: 9499
- Ensembl: ENSG00000120729
- OMIM: 604103
- UniProtKB: Q9UBF9
Previous HGNC Symbols for MYOT Gene
- TTID
- LGMD1A
- LGMD1
Previous GeneCards Identifiers for MYOT Gene
- GC05P137232
- GC05P137233
- GC05P137203
- GC05P132395
Summaries 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.
Additional gene information for MYOT Gene
- Monarch Initiative
- Search for MYOT at DataMed
- Search for MYOT at HumanCyc
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
- 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:
-
- C/EBPalpha
- POU2F1a
- POU2F1
- RSRFC4
- Meis-1b
- Meis-1a
- Meis-1
- aMEF-2
- MEF-2
- MEF-2A
Regulatory Element Products
Genomic Locations for MYOT Gene
Genomic Locations for MYOT Gene
- chr5:137,867,791-137,887,851
- (GRCh38/hg38)
- Size:
- 20,061 bases
- Orientation:
- Plus strand
- chr5:137,203,480-137,223,540
- (GRCh37/hg19)
- Size:
- 20,061 bases
- Orientation:
- Plus strand
Genomic View for MYOT Gene
Genes around MYOT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q31.2 by Entrez Gene
- 5q31.2 by HGNC
- 5q31.2 by Ensembl
MYOT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MYOT Gene
Proteins for MYOT Gene
-
Protein details for MYOT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBF9-MYOTI_HUMAN
- Recommended name:
- Myotilin
- Protein Accession:
- Q9UBF9
- A0A4R6
- B4DT79
Protein attributes for MYOT Gene
- Size:
- 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.
Protein Expression for MYOT Gene
Post-translational modifications for MYOT Gene
Other Protein References for MYOT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MYOT
- Novus Biologicals Antibodies for MYOT
- Invitrogen Antibodies for MYOT
- GeneTex MYOT Antibody for MYOT
-
Santa Cruz Biotechnology (SCBT) Antibodies for MYOT
Protein Products
-
OriGene Purified Proteins for MYOT
- Search Origene for MassSpec and Protein Over-expression Lysates for MYOT
- Origene Custom Protein Services for MYOT
- antibodies-online: Search results for 5 available MYOT Proteins ranked by validation data
- Compare Top MYOT Proteins
-
Quality Products:
- Search GeneTex for Proteins for MYOT
Assay Products
- antibodies-online: Search results for 2 available MYOT Elisa Kits ranked by validation data
- Compare Top MYOT Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MYOT Gene
Domains & Families for MYOT Gene
Gene Families for MYOT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for MYOT Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MYOT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UBF9- Family:
-
- Belongs to the myotilin/palladin family.
Function for MYOT Gene
Molecular function for MYOT Gene
- 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.
- 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
Phenotypes From GWAS Catalog 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 |
Phenotypes for MYOT Gene
- MGI mutant phenotypes for MYOT:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MYOT:
-
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability after ionizing radiation
- Decreased ionizing radiation sensitivity
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
Animal Models for MYOT Gene
- MGI Knock Outs for MYOT:
-
- Myot Myot<tm1.1Moza>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MYOT
-
CRISPR Products
-
OriGene CRISPR knockouts for MYOT
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- genomics-online: gRNA clones - Search results for available MYOT gene related products
- Applied Biological Materials CRISPR for MYOT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYOT
- GenScript: Design CRISPR guide RNA sequences for MYOT
miRNA for MYOT Gene
- miRTarBase miRNAs that target MYOT
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MYOT
- Browse OriGene Inhibitory RNA Products For MYOT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOT
- genomics-online: shRNA clones - Search results for available MYOT gene related products
Clone Products
- Sino Biological Human cDNA Clone for MYOT
- VectorBuilder custom plasmid, inducible vectors for MYOT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYOT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYOT
- genomics-online: cdna clones - Search results for available MYOT gene related products
- orf clones - Search results for available MYOT gene related products
- Applied Biological Materials Clones for MYOT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MYOT
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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 4 |
| cytosol | 3 |
| nucleus | 2 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOT Gene
Pathways & Interactions for MYOT Gene
No Data Available
Interacting Proteins for MYOT Gene
Selected Interacting proteins:
Q9UBF9-MYOTI_HUMAN
ENSP00000239926
for MYOT Gene via
IID
STRING
UniProtKB
GPS-Prot Interaction Network for MYOT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006936 | muscle contraction | TAS | 10958653 |
No data available for Pathways by source and SIGNOR curated interactions for MYOT Gene
Transcripts for MYOT Gene
mRNA/cDNA for MYOT Gene
- (6) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (164) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000239926 2337 bps (uc003lbv.4)
- ENST00000421631 1474 bps (uc011cyg.3)
- ENST00000503748 582 bps (uc063hib.1)
- ENST00000508938 655 bps (uc063hid.1)
- ENST00000509812 563 bps (uc063hhz.1)
Unigene Clusters for MYOT Gene
- Myotilin:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MYOT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYOT
- genomics-online: gRNA clones - Search results for available MYOT gene related products
- Applied Biological Materials CRISPR for MYOT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYOT
- GenScript: Design CRISPR guide RNA sequences for MYOT
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MYOT
- Browse OriGene Inhibitory RNA Products For MYOT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOT
- genomics-online: shRNA clones - Search results for available MYOT gene related products
Clone Products
- Sino Biological Human cDNA Clone for MYOT
- VectorBuilder custom plasmid, inducible vectors for MYOT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYOT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYOT
- genomics-online: cdna clones - Search results for available MYOT gene related products
- orf clones - Search results for available MYOT gene related products
- Applied Biological Materials Clones for MYOT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - |
Expression for MYOT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Adipose (Muscoskeletal System)
- Blood (Hematopoietic System)
-
Thyroid (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for MYOT Gene
This gene is overexpressed in Muscle - Skeletal (x44.9).
This gene is overexpressed in Tonsil (34.5) and Esophagus (30.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOT Gene
NURSA nuclear receptor signaling pathways regulating expression of MYOT Gene:
MYOTSOURCE GeneReport for Unigene cluster for MYOT Gene:
Hs.84665mRNA Expression by UniProt/SwissProt for MYOT Gene:
Q9UBF9-MYOTI_HUMAN
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
Systems:
- cardiovascular
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- ear
- head
- larynx
- mouth
- neck
- nose
- pharynx
- vocal cord
Thorax:
- clavicle
- esophagus
- heart
- heart valve
- scapula
Abdomen:
- stomach
Pelvis:
- pelvis
Limb:
- arm
- foot
- forearm
- hand
- humerus
- lower limb
- shin
- shoulder
- thigh
- upper limb
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs and template standards for MYOT
-
OriGene qPCR primer pairs for MYOT
- genomics-online: primer clones - Search results for available MYOT gene related products
Gene Expression Assay Products
Orthologs for MYOT Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MYOT 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MYOT 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MYOT 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Myot 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Myot 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MYOT 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MYOT 33 |
|
||
| TITIN 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | MYOT 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | myot 33 |
|
||
| Str.3561 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.18672 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100329862 33 |
|
||
| MYOT 34 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4426 34 |
|
ManyToMany |
- 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
- ENSEMBL:
- Gene Tree for MYOT (if available)
- TreeFam:
- Gene Tree for MYOT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MYOT: view image
Paralogs for MYOT Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv830501 | CNV | gain | 17160897 |
| esv3606913 | CNV | gain | 21293372 |
| esv3606912 | CNV | gain | 21293372 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOT Gene
Disorders for MYOT Gene
(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 |
|
|
| muscular dystrophy, limb-girdle, type 1a |
|
|
| myopathy, spheroid body |
|
|
| myofibrillar myopathy |
|
|
| limb-girdle muscular dystrophy |
|
Search MYOT in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MYOTI_HUMAN- 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 disk 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MYOT Gene
Publications for MYOT Gene
- 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
- 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
- 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
- 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
- A mutation in myotilin causes spheroid body myopathy. (PMID: 16380616) Foroud T … Nichols WC (Neurology 2005) 3 4 22 58
Products for MYOT Gene
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- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MYOT
- Novus Biologicals proteins and lysates for MYOT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- VectorBuilder custom plasmid, inducible vectors for MYOT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MYOT
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 63 available MYOT Antibodies ranked by validation data
- Compare Top MYOT Antibodies
- antibodies-online: Search results for 2 available MYOT Elisa Kits ranked by validation data
- Compare Top MYOT Elisa Kits
- Quality Products:
- antibodies-online: Search results for 5 available MYOT Proteins ranked by validation data
- Compare Top MYOT Proteins
- Quality Products:
- GeneTex MYOT Antibody for MYOT
- Search GeneTex for Proteins for MYOT
- Santa Cruz Biotechnology (SCBT) Antibodies for MYOT
- Search Santa Cruz Biotechnology (SCBT) for MYOT siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MYOT
- Horizon Cell Lines for MYOT
- genomics-online: cdna clones - Search results for available MYOT gene related products
- orf clones - Search results for available MYOT gene related products
- genomics-online: gRNA clones - Search results for available MYOT gene related products
- genomics-online: primer clones - Search results for available MYOT gene related products
- genomics-online: shRNA clones - Search results for available MYOT gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYOT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYOT
- GeneCopoeia miRNA 3'UTR Target clone products for MYOT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOT
Sources for MYOT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt