Gene

mfn2

ID

ZDB-GENE-081105-44

Name

mitofusin 2

Symbol

mfn2 Nomenclature History

Previous Names

mg:cb01g09
si:dkeyp-104h9.2
wu:fb79a11

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to enable GTPase activity. Acts upstream of or within several processes, including axonal transport of mitochondrion; axonogenesis; and neuromuscular junction development. Predicted to be located in membrane and mitochondrion. Predicted to be active in mitochondrial outer membrane. Is expressed in several structures, including heart; muscle; nervous system; otic vesicle; and ventral mesenchyme. Used to study Charcot-Marie-Tooth disease type 2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2A; Charcot-Marie-Tooth disease type 2A2B; Charcot-Marie-Tooth disease type 6; and multiple symmetric lipomatosis. Orthologous to human MFN2 (mitofusin 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 5 publications

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: 14 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With mfn2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Charcot-Marie-Tooth disease type 2A2A	Alliance	Charcot-Marie-Tooth disease, axonal, type 2A2A	609260
Charcot-Marie-Tooth disease type 2A2B	Alliance	Charcot-Marie-Tooth disease, axonal, type 2A2B	617087
Charcot-Marie-Tooth disease type 6	Alliance	Hereditary motor and sensory neuropathy VIA	601152
multiple symmetric lipomatosis	Alliance	Lipomatosis, multiple symmetric, with or without peripheral neuropathy	151800

Associated With mfn2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Charcot-Marie-Tooth disease type 2	ml2Tg + MO1-mfn2	standard conditions	Vettori et al., 2011
Charcot-Marie-Tooth disease type 2	WT + MO1-mfn2	standard conditions	Vettori et al., 2011

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR006884	Fzo/mitofusin HR2 domain
Domain	IPR030381	Dynamin-type guanine nucleotide-binding (G) domain
Domain	IPR045063	Dynamin, N-terminal
Family	IPR027094	Mitofusin family
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase