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
Expression
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
Phenotype
All Phenotype Data
4 figures from Bührdel et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With myot Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
myofibrillar myopathy 3 Alliance Myopathy, myofibrillar, 3 609200
Associated With myot Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA myot-201 (1) Ensembl 6,082 nt
mRNA myot-202 (1) Ensembl 7,031 nt
ncRNA myot-003 (1) Ensembl 781 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations