• Gene id: 9927

Gene Summary

• Gene Symbol: MFN2   Gene   UCSC   Ensembl
• Aliases: CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF
• Gene name: mitofusin 2
• Alternate names: mitofusin-2, hyperplasia suppressor, mitochondrial assembly regulatory factor, transmembrane GTPase MFN2,
• Gene location: 1p36.22 (11980180: 12013514)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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 prolifera
• OMIM: 608507

Protein Summary

• Protein general information: O95140  
  • Name: Mitofusin 2 (EC 3.6.5. ) (Transmembrane GTPase MFN2)
  • Length: 757  
  • Mass: 86402
  • Tissue specificity: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO
• Sequence:

  MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQV
  LDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEG
  SEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVL
  VANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
  IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLI
  MDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQM
  DFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLN
  YDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
  VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQL
  VISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTH
  QYLQPSR

• Structural information:
  • Protein Domains: (93..34-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055"-)
  • Interpro: IPR022812  IPR006884  IPR030381  IPR027089  IPR027094   IPR027417  
  • Prosite: PS51718
  • PDB: 6JFK 6JFL 6JFM
  • PDBsum: 6JFK 6JFL 6JFM
  • DIP: 42832
  • STRING: ENSP00000235329
• Other Databases: GeneCards:  MFN2  Malacards:  MFN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0061734	parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	ISS	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0051646	mitochondrion localization	IBA	biological process
GO:0008053	mitochondrial fusion	IBA	biological process
GO:0031306	intrinsic component of mitochondrial outer membrane	IBA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0008053	mitochondrial fusion	ISS	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0034497	protein localization to phagophore assembly site	IDA	biological process
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0001825	blastocyst formation	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0061734	parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IMP	biological process
GO:1905461	positive regulation of vascular associated smooth muscle cell apoptotic process	IMP	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0006626	protein targeting to mitochondrion	IDA	biological process
GO:0007006	mitochondrial membrane organization	IDA	biological process
GO:0051646	mitochondrion localization	IDA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0007050	cell cycle arrest	ISS	NOT|biological process
GO:0048662	negative regulation of smooth muscle cell proliferation	ISS	biological process
GO:0031306	intrinsic component of mitochondrial outer membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0008053	mitochondrial fusion	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04621	NOD-like receptor signaling pathway
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease type 6	PMID:16437557
Alzheimer's disease	PMID:19605646
type 2 diabetes mellitus	PMID:16123358
obesity	PMID:12598526
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq