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 have GTPase activity. Involved in several processes, including axonal transport of mitochondrion; axonogenesis; and neuromuscular junction development. Predicted to localize to intrinsic component of mitochondrial outer membrane. Is expressed in several structures, including gut; heart; 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; and Charcot-Marie-Tooth disease type 6. Orthologous to human MFN2 (mitofusin 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 publications

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: 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

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	IPR027089	Mitofusin-2
Family	IPR027094	Mitofusin family
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase