Gene
myot
- ID
- ZDB-GENE-110411-129
- Name
- myotilin
- Symbol
- myot Nomenclature History
- Previous Names
-
- fi31g01
- si:ch211-194m19.4 (1)
- wu:fi31g01
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable cell-cell adhesion mediator activity. Acts upstream of or within several processes, including heart contraction; myofibril assembly; and skeletal muscle tissue development. Predicted to be active in axon and plasma membrane. Is expressed in heart and skeletal muscle. Human ortholog(s) of this gene implicated in muscular dystrophy and myofibrillar myopathy 3. Orthologous to human MYOT (myotilin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Bührdel et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Bührdel et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| myofibrillar myopathy 3 | Alliance | Myopathy, myofibrillar, 3 | 609200 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RM90 | InterPro | 814 | ||||||
| UniProtKB:A0A8M9QBD0 | InterPro | 813 | ||||||
| UniProtKB:E7FH53 | InterPro | 561 | ||||||
| UniProtKB:A0A8M9Q553 | InterPro | 653 |
Interactions and Pathways
No data available
Plasmids
No data available