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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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 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 I-set	Immunoglobulin-like domain	Immunoglobulin-like domain superfamily	Immunoglobulin-like fold	Immunoglobulin subtype	Immunoglobulin subtype 2
UniProtKB:A0A8M1RM90 InterPro	814
UniProtKB:A0A8M9QBD0 InterPro	813
UniProtKB:E7FH53 InterPro	561
UniProtKB:A0A8M9Q553 InterPro	653

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	myot-201 (1) Ensembl	Havana	6082 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	myot-202 (1) Ensembl	Havana	7031 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	myot-003 (1) Ensembl	Havana	781 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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