Property Summary

NCBI Gene PubMed Count 139
Grant Count 134
R01 Count 49
Funding $13,278,487.32
PubMed Score 415.43
PubTator Score 296.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma 2.037 0.000
glioblastoma 1.100 0.021
medulloblastoma, large-cell 1.400 0.001
limb girdle muscular dystrophy 2B -1.133 0.000
Amyotrophic Lateral Sclerosis -1.009 0.000
group 4 medulloblastoma 1.300 0.012
aldosterone-producing adenoma -1.086 0.041
Gaucher disease type 1 -1.700 0.006
dermatomyositis -1.100 0.026

Synonym

Accession O95140 A8K1B3 O95572 Q5JXC3 Q5JXC4 Q9H131 Q9NSX8
Symbols HSG
MARF
CMT2A
CPRP1
CMT2A2
HMSN6A
CMT2A2A
CMT2A2B

Gene

Gene RIF (122)

PMID Text
26942197 These results suggest that defects in Mfn2 could cause mitochondrial dysfunction and decrease trophoblastic cells' viability
26916081 family study of early onset severe axonal Charcot-Marie-Tooth disease with dominant inheritance - SNP mutation in MFN2
26845057 Our findings provide new insight into the mechanism underlying Mitofusin-2 regulation and the potential role of miR-761 in tocellular carcinoma, making it a potential candidate for use in HCC therapy in the future
26816493 This study demonstrated that Mfn2 gene polymorphisms were associated with essential hypertension in northern Han Chinese population, especially in male subjects
26581383 The results of this study suggested that the MFN2 gene should be considered in Polish hereditary motor-sensory neuropathiey II patients.
26566676 downregulationof expression is caused by activation of resting peripheral blood T cells
26446920 Report exposes a novel role for Shh in regulating mitochondrial dynamics and rescue the metabolic profile of tumor cells through regulation of mitofusin 1 and 2.
26307536 increased expression of miR-214 observed in a Huntington disease cell model could target MFN2, altered mitochondrial morphology and deregulated cell cycle
26143526 Mutations in the gene encoding MFN2 are associated with Charcot-Marie-Tooth disease type 2A and MFN2 is involved in several intracellular pathways that interact to regulate the mitochondrial network within cells.
26114802 A deletion of exons 7 and 8 is a founder mutation in MFN2 in the UK population.
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AA Sequence

MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVT      1 - 70
TEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTD     71 - 140
GHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELD    141 - 210
SWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMER    211 - 280
CTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECIS    281 - 350
QSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK    351 - 420
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSL    421 - 490
QTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPK    491 - 560
NSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVG    561 - 630
WRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLC    631 - 700
QQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR                 701 - 757
//

Text Mined References (141)

PMID Year Title
27059175 2016 SAMM50 Affects Mitochondrial Morphology through the Association of Drp1 in Mammalian Cells.
26942197 2016 Downregulation of Mitofusin 2 in Placenta Is Related to Preeclampsia.
26916081 2016 Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.
26845057 2016 MicroRNA-761 is upregulated in hepatocellular carcinoma and regulates tumorigenesis by targeting Mitofusin-2.
26816493 2016 The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population.
26581383 2015 Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.
26566676 2015 Mechanism of Activation-Induced Downregulation of Mitofusin 2 in Human Peripheral Blood T Cells.
26446920 2016 Sonic Hedgehog Signaling Drives Mitochondrial Fragmentation by Suppressing Mitofusins in Cerebellar Granule Neuron Precursors and Medulloblastoma.
26307536 2015 Regulation of mitochondrial morphology and cell cycle by microRNA-214 targeting Mitofusin2.
26143526 2015 MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
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