======= MFN2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MFN2
  * **<color #00a2e8>Official Name</color>**: mitofusin 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9927|9927]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95140|O95140]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MFN2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MFN2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608507|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity). {ECO:0000250|UniProtKB:Q80U63, ECO:0000250|UniProtKB:Q8R500, ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:23620051, ECO:0000269|PubMed:28114303, ECO:0000305}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Dynamin N|
|Fzo mitofusin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|intrinsic component of mitochondrial outer membrane|
|parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization|
|positive regulation of vascular associated smooth muscle cell apoptotic process|
|positive regulation of mitophagy in response to mitochondrial depolarization|
|positive regulation of mitophagy|
|regulation of vascular associated smooth muscle cell apoptotic process|
|protein localization to phagophore assembly site|
|positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization|
|regulation of autophagy of mitochondrion in response to mitochondrial depolarization|
|positive regulation of smooth muscle cell apoptotic process|
|mitochondrial fusion|
|regulation of mitophagy|
|positive regulation of autophagy of mitochondrion|
|response to mitochondrial depolarisation|
|regulation of smooth muscle cell apoptotic process|
|positive regulation of muscle cell apoptotic process|
|positive regulation of vascular smooth muscle cell proliferation|
|blastocyst formation|
|regulation of autophagy of mitochondrion|
|negative regulation of smooth muscle cell proliferation|
|mitochondrion localization|
|regulation of vascular smooth muscle cell proliferation|
|negative regulation of Ras protein signal transduction|
|protein targeting to mitochondrion|
|negative regulation of small GTPase mediated signal transduction|
|autophagosome assembly|
|autophagosome organization|
|positive regulation of macroautophagy|
|regulation of muscle cell apoptotic process|
|establishment of protein localization to mitochondrion|
|protein localization to mitochondrion|
|positive regulation of smooth muscle cell proliferation|
|organelle fusion|
|positive regulation of cold-induced thermogenesis|
|blastocyst development|
|camera-type eye morphogenesis|
|positive regulation of mitochondrion organization|
|positive regulation of autophagy|
|mitochondrial membrane organization|
|vacuole organization|
|regulation of smooth muscle cell proliferation|
|regulation of cold-induced thermogenesis|
|cell cycle arrest|
|eye morphogenesis|
|microtubule cytoskeleton|
|macroautophagy|
|response to unfolded protein|
|mitochondrial outer membrane|
|regulation of macroautophagy|
|regulation of mitochondrion organization|
|response to topologically incorrect protein|
|mitochondrial transport|
|regulation of Ras protein signal transduction|
|sensory organ morphogenesis|
|process utilizing autophagic mechanism|
|autophagy|
|blood coagulation|
|ubiquitin protein ligase binding|
|coagulation|
|hemostasis|
|camera-type eye development|
|GTPase activity|
|regulation of autophagy|
|regulation of small GTPase mediated signal transduction|
|protein targeting|
|eye development|
|visual system development|
|positive regulation of cellular catabolic process|
|sensory system development|
|in utero embryonic development|
|GTP binding|
|positive regulation of catabolic process|
|establishment of protein localization to organelle|
|mitochondrion organization|
|wound healing|
|regulation of body fluid levels|
|negative regulation of intracellular signal transduction|
|sensory organ development|
|response to wounding|
|negative regulation of cell cycle|
|organelle localization|
|positive regulation of organelle organization|
|chordate embryonic development|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|embryo development ending in birth or egg hatching|
|negative regulation of cell population proliferation|
|positive regulation of cell death|
|protein localization to organelle|
|organelle assembly|
|regulation of cellular catabolic process|
|membrane organization|
|anatomical structure formation involved in morphogenesis|
|positive regulation of cell population proliferation|
|apoptotic process|
|animal organ morphogenesis|
|embryo development|
|intracellular protein transport|
|regulation of catabolic process|
|cell cycle process|
|programmed cell death|
|cell death|
|regulation of cell cycle|
|positive regulation of cellular component organization|
|mitochondrion|
|negative regulation of signal transduction|
|regulation of organelle organization|
|cell cycle|
|negative regulation of cell communication|
|negative regulation of signaling|
|protein transport|
|intracellular transport|
|peptide transport|
|regulation of apoptotic process|
|regulation of programmed cell death|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|regulation of cell death|
|cellular response to stress|
|positive regulation of multicellular organismal process|
|cellular catabolic process|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|nitrogen compound transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|1.88|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 56/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|3/28|
|blood|1/28|
|bone|0/26|
|breast|5/33|
|central nervous system|3/56|
|cervix|0/4|
|colorectal|1/17|
|esophagus|4/13|
|fibroblast|0/1|
|gastric|2/16|
|kidney|3/21|
|liver|4/20|
|lung|8/75|
|lymphocyte|1/16|
|ovary|2/26|
|pancreas|1/24|
|peripheral nervous system|2/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|1/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|4/29|
|uterus|1/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1033
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MFN2 Expression in NALM6 Cells: 6.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>