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 have cell-cell adhesion mediator activity. Involved in several processes, including heart contraction; myofibril assembly; and skeletal muscle tissue development. Predicted to localize to axon and plasma membrane. Human ortholog(s) of this gene implicated in muscular dystrophy; myofibrillar myopathy 3; and spheroid body myopathy. Is expressed in heart and skeletal muscle. 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 | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1RM90
|
814 | ||||||
|
UniProtKB:A0A8M9QBD0
|
813 | ||||||
|
UniProtKB:E7FH53
|
561 | ||||||
|
UniProtKB:A0A8M9Q553
|
653 |
Interactions and Pathways
No data available
Plasmids
No data available