Gene

myof

ID

ZDB-GENE-040426-1138

Name

myoferlin

Symbol

myof Nomenclature History

Previous Names

zgc:63504 (1)

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Predicted to enable metal ion binding activity. Predicted to be involved in membrane fusion and plasma membrane organization. Predicted to act upstream of or within myoblast fusion. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Used to study limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Bonventre et al., 2018

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Kiselev et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With myof Human Ortholog

No data available

Associated With myof Via Experimental Models

Human Disease	Fish	Conditions	Citations
limb-girdle muscular dystrophy	WT + MO1-myof	standard conditions	Kiselev et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000008	C2 domain
Domain	IPR006614	Peroxin/Ferlin domain
Domain	IPR012560	Ferlin A-domain
Domain	IPR012561	Ferlin B-domain
Domain	IPR012968	FerIin domain
Domain	IPR032362	Ferlin, C-terminal domain
Domain	IPR037720	Ferlin, second C2 domain
Domain	IPR037722	Ferlin, third C2 domain
Domain	IPR037723	Ferlin, fourth C2 domain
Domain	IPR037724	Ferlin, fifth C2 domain
Domain	IPR037725	Ferlin, sixth C2 domain
Domain	IPR037726	Ferlin, first C2 domain
Family	IPR037721	Ferlin family
Homologous_superfamily	IPR035892	C2 domain superfamily