MFN2 | ENSG00000116688 | NCBI 9927

Details for: MFN2

Gene ID: 9927

Symbol: MFN2

Ensembl ID: ENSG00000116688

Description: mitofusin 2

Associated with

Autophagy
(R-HSA-9612973)
Factors involved in megakaryocyte development and platelet production
(R-HSA-983231)
Hemostasis
(R-HSA-109582)
Macroautophagy
(R-HSA-1632852)
Miro gtpase cycle
(R-HSA-9715370)
Mitophagy
(R-HSA-5205647)
Pink1-prkn mediated mitophagy
(R-HSA-5205685)
Rhot2 gtpase cycle
(R-HSA-9013419)
Selective autophagy
(R-HSA-9663891)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signal transduction
(R-HSA-162582)
Aerobic respiration
(GO:0009060)
Apoptotic process
(GO:0006915)
Blastocyst formation
(GO:0001825)
Camera-type eye morphogenesis
(GO:0048593)
Cytosol
(GO:0005829)
Gtpase activity
(GO:0003924)
Gtp binding
(GO:0005525)
Microtubule cytoskeleton
(GO:0015630)
Mitochondrial fusion
(GO:0008053)
Mitochondrial membrane organization
(GO:0007006)
Mitochondrial outer membrane
(GO:0005741)
Mitochondrion
(GO:0005739)
Mitochondrion localization
(GO:0051646)
Negative regulation of ras protein signal transduction
(GO:0046580)
Negative regulation of smooth muscle cell proliferation
(GO:0048662)
Parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization
(GO:0061734)
Positive regulation of cold-induced thermogenesis
(GO:0120162)
Positive regulation of vascular associated smooth muscle cell apoptotic process
(GO:1905461)
Positive regulation of vascular associated smooth muscle cell proliferation
(GO:1904707)
Protein binding
(GO:0005515)
Protein localization to phagophore assembly site
(GO:0034497)
Protein targeting to mitochondrion
(GO:0006626)
Response to unfolded protein
(GO:0006986)
Ubiquitin protein ligase binding
(GO:0031625)

Other Information

Proteins

MFN2_HUMAN

Genular Protein ID: 3455723982

Symbol: MFN2_HUMAN

Name: N/A

UniProtKB Accession Codes:

O95140 A8K1B3 O95572 Q5JXC3 Q5JXC4 Q9H131 Q9NSX8

Database IDs:

Citations:

PubMed ID: 12598526

Title: Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity.

PubMed ID: 12598526

DOI: 10.1074/jbc.m212754200

PubMed ID: 15322553

Title: Dysregulation of HSG triggers vascular proliferative disorders.

PubMed ID: 15322553

DOI: 10.1038/ncb1161

PubMed ID: 9039502

Title: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

PubMed ID: 9039502

DOI: 10.1093/dnares/3.5.321

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 11181170

Title: Control of mitochondrial morphology by a human mitofusin.

PubMed ID: 11181170

DOI: 10.1242/jcs.114.5.867

PubMed ID: 11950885

Title: Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.

PubMed ID: 11950885

DOI: 10.1242/jcs.115.8.1663

PubMed ID: 12499352

Title: Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis.

PubMed ID: 12499352

DOI: 10.1083/jcb.200209124

PubMed ID: 12759376

Title: Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells.

PubMed ID: 12759376

DOI: 10.1242/jcs.00479

PubMed ID: 15064763

Title: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

PubMed ID: 15064763

DOI: 10.1038/ng1341

PubMed ID: 17121834

Title: Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2.

PubMed ID: 17121834

DOI: 10.1074/jbc.m608168200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21715711

Title: Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

PubMed ID: 21715711

DOI: 10.1212/wnl.0b013e3182242d4d

PubMed ID: 23620051

Title: PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria.

PubMed ID: 23620051

DOI: 10.1126/science.1231031

PubMed ID: 25008184

Title: IHG-1 increases mitochondrial fusion and bioenergetic function.

PubMed ID: 25008184

DOI: 10.2337/db13-1256

PubMed ID: 26085578

Title: Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PubMed ID: 26085578

DOI: 10.1093/hmg/ddv229

PubMed ID: 26214738

Title: Regulation of mitochondrial morphology and function by stearoylation of TFR1.

PubMed ID: 26214738

DOI: 10.1038/nature14601

PubMed ID: 26955893

Title: Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

PubMed ID: 26955893

DOI: 10.1002/ajmg.a.37611

PubMed ID: 28114303

Title: MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion.

PubMed ID: 28114303

DOI: 10.1038/nature21077

PubMed ID: 30217973

Title: HUWE1 E3 ligase promotes PINK1/PARKIN-independent mitophagy by regulating AMBRA1 activation via IKKalpha.

PubMed ID: 30217973

DOI: 10.1038/s41467-018-05722-3

PubMed ID: 15549395

Title: Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

PubMed ID: 15549395

DOI: 10.1007/s00439-004-1199-2

PubMed ID: 16437557

Title: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

PubMed ID: 16437557

DOI: 10.1002/ana.20797

PubMed ID: 16762064

Title: Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

PubMed ID: 16762064

DOI: 10.1186/1471-2350-7-53

PubMed ID: 18458227

Title: Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

PubMed ID: 18458227

DOI: 10.1212/01.wnl.0000311275.89032.22

PubMed ID: 20350294

Title: MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

PubMed ID: 20350294

DOI: 10.1186/1471-2350-11-48

PubMed ID: 22206013

Title: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PubMed ID: 22206013

DOI: 10.1371/journal.pone.0029393

PubMed ID: 26316991

Title: The MFN2 V705I variant is not a disease-causing mutation: a segregation analysis in a CMT2 family.

PubMed ID: 26316991

DOI: 10.1155/2013/495873

PubMed ID: 24627108

Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PubMed ID: 24627108

DOI: 10.1007/s00415-014-7289-8

PubMed ID: 24604904

Title: Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PubMed ID: 24604904

DOI: 10.1136/jnnp-2013-306740

PubMed ID: 34193129

Title: Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

PubMed ID: 34193129

DOI: 10.1186/s12920-021-01019-5

Sequence Information:

Length: 757
Mass: 86402
Checksum: 6F859D740152DFAD
Sequence:

MSLLFSRCNS IVTVKKNKRH MAEVNASPLK HFVTAKKKIN GIFEQLGAYI QESATFLEDT 
YRNAELDPVT TEEQVLDVKG YLSKVRGISE VLARRHMKVA FFGRTSNGKS TVINAMLWDK 
VLPSGIGHTT NCFLRVEGTD GHEAFLLTEG SEEKRSAKTV NQLAHALHQD KQLHAGSLVS 
VMWPNSKCPL LKDDLVLMDS PGIDVTTELD SWIDKFCLDA DVFVLVANSE STLMQTEKHF 
FHKVSERLSR PNIFILNNRW DASASEPEYM EEVRRQHMER CTSFLVDELG VVDRSQAGDR 
IFFVSAKEVL NARIQKAQGM PEGGGALAEG FQVRMFEFQN FERRFEECIS QSAVKTKFEQ 
HTVRAKQIAE AVRLIMDSLH MAAREQQVYC EEMREERQDR LKFIDKQLEL LAQDYKLRIK 
QITEEVERQV STAMAEEIRR LSVLVDDYQM DFHPSPVVLK VYKNELHRHI EEGLGRNMSD 
RCSTAITNSL QTMQQDMIDG LKPLLPVSVR SQIDMLVPRQ CFSLNYDLNC DKLCADFQED 
IEFHFSLGWT MLVNRFLGPK NSRRALMGYN DQVQRPIPLT PANPSMPPLP QGSLTQEEFM 
VSMVTGLASL TSRTSMGILV VGGVVWKAVG WRLIALSFGL YGLLYVYERL TWTTKAKERA 
FKRQFVEHAS EKLQLVISYT GSNCSHQVQQ ELSGTFAHLC QQVDVTRENL EQEIAAMNKK 
IEVLDSLQSK AKLLRNKAGW LDSELNMFTH QYLQPSR

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: MFN2

Associated with

Other Information

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. PubMed ID: 12598526

Dysregulation of HSG triggers vascular proliferative disorders. PubMed ID: 15322553

Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. PubMed ID: 9039502

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

Control of mitochondrial morphology by a human mitofusin. PubMed ID: 11181170

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. PubMed ID: 11950885

Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis. PubMed ID: 12499352

Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. PubMed ID: 12759376

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. PubMed ID: 15064763

Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2. PubMed ID: 17121834

Initial characterization of the human central proteome. PubMed ID: 21269460

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. PubMed ID: 21715711

PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria. PubMed ID: 23620051

IHG-1 increases mitochondrial fusion and bioenergetic function. PubMed ID: 25008184

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. PubMed ID: 26085578

Regulation of mitochondrial morphology and function by stearoylation of TFR1. PubMed ID: 26214738

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. PubMed ID: 26955893

MFN1 structures reveal nucleotide-triggered dimerization critical for mitochondrial fusion. PubMed ID: 28114303

HUWE1 E3 ligase promotes PINK1/PARKIN-independent mitophagy by regulating AMBRA1 activation via IKKalpha. PubMed ID: 30217973

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. PubMed ID: 15549395

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. PubMed ID: 16437557

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). PubMed ID: 16762064

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. PubMed ID: 18458227

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. PubMed ID: 20350294

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PubMed ID: 22206013

The MFN2 V705I variant is not a disease-causing mutation: a segregation analysis in a CMT2 family. PubMed ID: 26316991

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. PubMed ID: 24627108

Application of whole exome sequencing in undiagnosed inherited polyneuropathies. PubMed ID: 24604904

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. PubMed ID: 34193129