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Gene Ontology Classifications
Symbol
Name
ID
Mfn2
mitofusin 2
MGI:2442230

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GO curators for mouse genes have assigned the following annotations to the gene product of Mfn2. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Chen H et al. (2003) Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol, 160:189-200. (PubMed:12527753)
  2. Cleland MM et al. (2011) Bcl-2 family interaction with the mitochondrial morphogenesis machinery. Cell Death Differ, 18:235-47. (PubMed:20671748)
  3. Jiang GJ et al. (2005) Expression of HSG is essential for mouse blastocyst formation. Biochem Biophys Res Commun, 335:351-355. (PubMed:16083859)
  4. Karbowski M et al. (2006) Role of Bax and Bak in mitochondrial morphogenesis. Nature, 443:658-62. (PubMed:17035996)
  5. Munoz JP et al. (2013) Mfn2 modulates the UPR and mitochondrial function via repression of PERK. EMBO J, 32:2348-61. (PubMed:23921556)
  6. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
  7. Wang KS et al. (2005) Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Mamm Genome, 16:332-43. (PubMed:16104381)
  8. Whelan RS et al. (2012) Bax regulates primary necrosis through mitochondrial dynamics. Proc Natl Acad Sci U S A, 109:6566-71. (PubMed:22493254)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory