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Description for Protein MFN2

mitofusin 2
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(membrane: 1; platelet: 5)
Summary:
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.5.-
    KEGG - Orthology:
    K06030
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    KIAA0214; CPRP1; MARF
    Approved Symbol:
    MFN2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Charcot-Marie-tooth disease, axonal, type 2A2(Pd);
  • Hereditary motor and sensory neuropathy VI(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 08495 Entrez Gene ID: 9927 OMIM ID: 608507 Swissprot Accession: O95140;