Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Mfn2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Mfn2
  • is located in the following cellular components:
    • microtubule cytoskeleton ^[2]
    • mitochondrion ^{[3, 4]}
• The gene product of Mfn2 has been shown to bind to the gene products of Mfn1, Mfn2. ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Mfn2
  • participates in the following biological processes:
    • blastocyst formation ^[2]
    • camera-type eye morphogenesis ^[5]
    • mitochondrial fusion ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Mfn2:
  • participates in the following biological processes:
    • cell cycle arrest
    • mitochondrial fusion
    • mitochondrial membrane organization
    • mitochondrion localization
    • negative regulation of cell proliferation
    • negative regulation of Ras protein signal transduction
    • negative regulation of smooth muscle cell proliferation
    • protein targeting to mitochondrion
  • performs the following molecular functions:
    • GTP binding
    • GTPase activity
    • GTPase binding
    • ubiquitin protein ligase binding
  • is located in the following cellular components:
    • cytosol
    • intrinsic to mitochondrial outer membrane
    • mitochondrial outer membrane
    • mitochondrion

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Summary text based on GO annotations supported by structural data

• Mfn2 encodes a protein or proteins that contain the following InterPro domains: Dynamin, GTPase domain, Fzo/mitofusin HR2 domain, indicating that the gene product:
  • participates in the following biological processes:
    • GTP catabolic process
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Mfn2 indicates that it:
  • participates in the following biological processes:
    • metabolic process
    • multicellular organismal development
  • performs the following molecular functions:
    • hydrolase activity
    • nucleotide binding
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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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. Jiang GJ et al. (2005) Expression of HSG is essential for mouse blastocyst formation. Biochem Biophys Res Commun, 335:351-355. (PubMed:16083859)
3. Karbowski M et al. (2006) Role of Bax and Bak in mitochondrial morphogenesis. Nature, 443:658-62. (PubMed:17035996)
4. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell, 134:112-23. (PubMed:18614015)
5. Wang KS et al. (2005) Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development. Mamm Genome, 16:332-43. (PubMed:16104381)

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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

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