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
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
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 |
Domain Details Per Protein
Protein | Length | Dynamin, N-terminal | Dynamin-type guanine nucleotide-binding (G) domain | Fzo/mitofusin HR2 domain | Mitofusin-2 | Mitofusin family | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|
UniProtKB:A8WIN6
|
757 |
Interactions and Pathways
No data available
Plasmids
No data available