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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MFN2 Gene

protein-coding   GIFtS: 69
GCID: GC01P012040

Mitofusin 2

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitofusin 21 2     MARF2
Transmembrane GTPase MFN22 3     Hyperplasia Suppressor2
CPRP12 3     Mitochondrial Assembly Regulatory Factor2
CMT2A22 5     mitofusin-22
KIAA02143 5     EC 3.6.5.-3
CMT2A2     EC 3.6.58
HSG2     

External Ids:    HGNC: 168771   Entrez Gene: 99272   Ensembl: ENSG000001166887   OMIM: 6085075   UniProtKB: O951403   

Export aliases for MFN2 gene to outside databases

Previous GC identifers: GC01P012104 GC01P011885 GC01P011649 GC01P011749 GC01P011974 GC01P011195


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MFN2 Gene:
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)

GeneCards Summary for MFN2 Gene: 
MFN2 (mitofusin 2) is a protein-coding gene. Diseases associated with MFN2 include charcot-marie-tooth neuropathy type 2a, and charcot-marie-tooth disease type 2a, and among its related super-pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include GTP binding and ubiquitin protein ligase binding. An important paralog of this gene is MFN1.

UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140
Function: Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in
many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion
and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial
metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of
mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation

Gene Wiki entry for MFN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MFN2 gene promoter:
         SRF   COUP-TF1   COUP   HNF-4alpha2   c-Ets-1   HNF-4alpha1   AREB6   PPAR-alpha   COUP-TF   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MFN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

MFN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFN2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P012040:  view genomic region     (about GC identifiers)

Start:
12,040,238 bp from pter      End:
12,073,572 bp from pter
Size:
33,335 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140 (See protein sequence)
Recommended Name: Mitofusin-2  
Size: 757 amino acids; 86402 Da
Subunit: Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second
coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1 (By similarity).
Interacts with STOML2; may form heterooligomers
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein. Note=Colocalizes with BAX during
apoptosis
Sequence caution: Sequence=BAA34389.2; Type=Erroneous initiation; Sequence=CAB70866.2; Type=Frameshift;
Positions=581;
Secondary accessions: A8K1B3 O95572 Q5JXC3 Q5JXC4 Q9H131 Q9NSX8
Alternative splicing: 2 isoforms:  O95140-1   O95140-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MFN2: NX_O95140

Explore proteomics data for MFN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95140

  • 4/7 DME Specific Peptides for MFN2 (O95140) (see all 7)
     KLLRNKA  FILNNRWD  LCADFQED  LPSGIGHTTNCF 

    MFN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MFN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001121132.1  NP_055689.1  

    ENSEMBL proteins: 
     ENSP00000235329   ENSP00000412023   ENSP00000416338  
    Reactome Protein details: O95140
    Human Recombinant Protein Products for MFN2: 
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    Novus Biologicals MFN2 Protein
    Novus Biologicals MFN2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MFN2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA11181170
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005829cytosol ISS--
    GO:0015630microtubule cytoskeleton IEA--
    GO:0016021integral to membrane IEA--

    MFN2 for ontologies           About GeneDecksing



    MFN2 Antibody Products: 
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    R&D Systems Antibodies for MFN2 (Mitofusin 2)
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    Cloud-Clone Corp. Antibodies for MFN2 
    ThermoFisher Antibodies for MFN2
    LSBio Antibodies in human, mouse, rat for MFN2 

    Assay Products for MFN2: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MFN2 
    Cloud-Clone Corp. CLIAs for MFN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR006884 Fzo/mitofusin_HR2
     IPR027089 Mitofusin-2
     IPR001401 Dynamin_GTPase
     IPR027417 P-loop_NTPase
     IPR027094 Mitofusin_fam

    Graphical View of Domain Structure for InterPro Entry O95140

    ProtoNet protein and cluster: O95140

    UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140
    Similarity: Belongs to the mitofusin family


    MFN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MFN2_HUMAN, O95140
    Function: Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in
    many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion
    and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial
    metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of
    mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation
    Catalytic activity: GTP + H(2)O = GDP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.52 EC 3.6.5.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding IPI17121834
    GO:0005525GTP binding IEA--
    GO:0031625ubiquitin protein ligase binding IPI16936636
         
    MFN2 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Mfn2):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     homeostasis/metabolism  mortality/aging  muscle  nervous system  normal 
     pigmentation  skeleton 

    MFN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mfn2tm1Dcc for MFN2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MFN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MFN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MFN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MFN2 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMFN2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): MFN2 (NM_014874)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFN2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MFN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet activation, signaling and aggregation
    Hemostasis0.43
    2Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MFN2
        Glucose / Energy Metabolism

    2        Reactome Pathways for MFN2
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    MFN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MFN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/12 Interacting proteins for MFN2 (O951402, 3 ENSP000002353294) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARCH5Q9NX472, 3, ENSP000003518134MINT-3374405 I2D: score=2 STRING: ENSP00000351813
    BAK1Q166112, 3, ENSP000003635914MINT-8258771 I2D: score=1 STRING: ENSP00000363591
    MFN1Q8IWA42, 3MINT-8258771 I2D: score=1 
    TCHPQ9BT922, 3, ENSP000003244044MINT-8057607 I2D: score=2 STRING: ENSP00000324404
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001825blastocyst formation IEA--
    GO:0006184GTP catabolic process ----
    GO:0006626protein targeting to mitochondrion IDA11181170
    GO:0007006mitochondrial membrane organization IDA11181170
    GO:0007050NOT cell cycle arrest ISS--

    MFN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MFN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MFN2

    1 HMDB Compound for MFN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for MFN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 0 11 16160866 (3), 20037808 (1), 12598526 (1)

    Search CenterWatch for drugs/clinical trials and news about MFN2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MFN2 gene (2 alternative transcripts): 
    NM_001127660.1  NM_014874.3  

    Unigene Cluster for MFN2:

    Mitofusin 2
    Hs.376681  [show with all ESTs]
    Unigene Representative Sequence: NM_014874
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490079 ENST00000235329(uc001atn.4) ENST00000484391 ENST00000497302
    ENST00000412236 ENST00000444836(uc009vni.3)

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate MFN2 (see all 32):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-16-2* hsa-miR-323b-3p hsa-miR-106a hsa-miR-302e hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidMFN2 3' UTR sequence
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFN2
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    Additional mRNA sequence: 

    AF036536.2 AK001189.1 AK021947.1 AK022453.1 AK289828.1 AK295890.1 AL122114.1 AL137666.1 
    AY028429.1 BC017061.1 D86987.1 

    24/25 DOTS entries (see all 25):

    DT.75123915  DT.92452553  DT.100753862  DT.75165776  DT.100682902  DT.100820068  DT.91737652  DT.95268282 
    DT.95363527  DT.100820067  DT.92452550  DT.100037752  DT.100820066  DT.121405070  DT.95250131  DT.95268257 
    DT.95268258  DT.97790125  DT.97864353  DT.101958697  DT.202589  DT.40293554  DT.448264  DT.95268251 

    24/476 AceView cDNA sequences (see all 476):

    AW517068 BQ050513 BM458475 BM671404 BM664129 AA434392 AL598479 AA604219 
    AL122114 AA765797 BF725300 BM827849 CB159256 AA196532 CA312874 BM971387 
    AI868018 AI244492 AW070541 AI220140 AA782085 CB990345 AL708626 AI160318 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MFN2 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
    SP1:                                      -                 -     -     -     -     -     -     -                                                     -     -   
    SP2:                                                                                                                                                  -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for MFN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MFN2 expression in normal human tissues (normalized intensities)      MFN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTTTTTT
    MFN2 Expression
    About this image


    MFN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Heart (Cardiovascular System)
             atrial myocardium   

    See MFN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFN2

    SOURCE GeneReport for Unigene cluster: Hs.376681

    UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140
    Tissue specificity: Ubiquitous; expressed at low level. Highly expressed in heart and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including MFN2: 
              Mitochondria in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MFN2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfn21 , 5 mitofusin 21, 5 89.96(n)1
    94.98(a)1
      4 (78.56 cM)5
    1707311  NM_133201.21  NP_573464.21 
     1478735995 
    chicken
    (Gallus gallus)
    Aves MFN21 mitofusin 2 80.04(n)
    91.52(a)
      419484  XM_417640.3  XP_417640.3 
    lizard
    (Anolis carolinensis)
    Reptilia MFN26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    AAWZ02037267(1464-15044)
    zebrafish
    (Danio rerio)
    Actinopterygii mfn21 mitofusin 2 76.31(n)
    82.96(a)
      567448  NM_001128254.1  NP_001121726.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Marf1 , 3 mitochondrion organization and
    biogenesis GTP more3
    Mitochondrial assembly regulatory factor1
    46(a)
    (best of 2)3
    57.37(n)1
    48.76(a)1
      5F43
    315811  NM_206635.21  NP_996358.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1248.143
    fzo-11
    Protein FZO-11 35(a)3
    46.3(n)1
    36.71(a)1
      II(5833507-5836167)3
    1739901  NM_062760.41  NP_495161.11 


    ENSEMBL Gene Tree for MFN2 (if available)
    TreeFam Gene Tree for MFN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFN2 gene
    MFN12  
    4 SIMAP similar genes for MFN2 using alignment to 2 protein entries:     MFN2_HUMAN (see all proteins):
    DKFZp762F247    hfzo1    hfzo2    MFN1

    MFN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/910 SNPs in MFN2 are shown (see all 910)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0224644
    Charcot-Marie-Tooth disease 2A2 (CMT2A2)4--see VAR_0224642 K N mis40--------
    VAR_0298764
    Charcot-Marie-Tooth disease 6 (CMT6)4--see VAR_0298762 R W mis40--------
    VAR_0298794
    Charcot-Marie-Tooth disease 6 (CMT6)4--see VAR_0298792 H Y mis40--------
    VAR_0298774
    Charcot-Marie-Tooth disease 6 (CMT6)4--see VAR_0298772 T I mis40--------
    VAR_0670894
    Charcot-Marie-Tooth disease 2A2 (CMT2A2)4--see VAR_0670892 E M mis40--------
    VAR_0670884
    Charcot-Marie-Tooth disease 2A2 (CMT2A2)4--see VAR_0670882 L V mis40--------
    VAR_0298784
    Charcot-Marie-Tooth disease 6 (CMT6)4--see VAR_0298782 Q R mis40--------
    VAR_0298804
    Charcot-Marie-Tooth disease 6 (CMT6)4--see VAR_0298802 R W mis40--------
    rs1383827581,2
    C,Fpathogenic112083168(+) GCACCG/ACCACA 4 /H /R mis11Minor allele frequency- A:0.00NA 4544
    rs1191032671,2
    C,Fpathogenic112088013(+) TCACCC/TGGGAG 4 R W mis12Minor allele frequency- T:0.00NA EU 5875

    HapMap Linkage Disequilibrium report for MFN2 (12040238 - 12073572 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MFN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672640CNV Deletion23128226
    esv2743785CNV Deletion23290073
    esv268997CNV Insertion20981092
    nsv470693CNV Loss18288195
    nsv870502CNV Loss21882294
    nsv871917CNV Loss21882294


    Human Gene Mutation Database (HGMD): MFN2

    Locus Specific Mutation Databases (LSDB): MFN2
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MFN2
    DNA2.0 Custom Variant and Variant Library Synthesis for MFN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608507   
    OMIM disorders: 609260  601152  
    UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140
  • Charcot-Marie-Tooth disease 2A2 (CMT2A2) [MIM:609260]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease 6 (CMT6) [MIM:601152]: A form of Charcot-Marie-Tooth disease characterized by
    the association of axonal peripheral neuropathy with optic atrophy. Charcot-Marie-Tooth disease is a disorder of
    the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal
    muscles and later of the distal muscles of the arms. It is classified in two main groups on the basis of
    electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary
    peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration
    in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/51 diseases for MFN2 (see all 51):    About MalaCards
    charcot-marie-tooth neuropathy type 2a    charcot-marie-tooth disease type 2a    hereditary motor and sensory neuropathy vi    charcot-marie-tooth disease with pyramidal features, autosomal dominant
    autosomal dominant optic atrophy plus syndrome    charcot-marie-tooth disease, type 2a2    severe early-onset axonal neuropathy due to mfn2 deficiency    charcot-marie-tooth neuropathy type 2a2
    adhesions of uterus    maxillary sinus adenoid cystic carcinoma    phimosis    cervical incompetence
    salpingitis    charcot-marie-tooth neuropathy type 2    optic atrophy    tooth disease
    charcot-marie-tooth disease    charcot-marie-tooth disease type 2    46 xy gonadal dysgenesis    charcot-marie-tooth neuropathy

    2 diseases from the University of Copenhagen DISEASES database for MFN2:
    Neuropathy     Myopathy

    MFN2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for MFN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hmsn vi 92.8 5 16835246 (2), 16437557 (1), 18946002 (1)
    charcot-marie-tooth disease 90.6 43 16762064 (3), 16123358 (2), 16714318 (2), 20193559 (2) (see all 21)
    optic atrophy autosomal dominant 88.2 6 16437557 (1), 19754948 (1), 19584314 (1), 16244327 (1)
    optic atrophy 77.1 5 16437557 (2), 18996695 (1), 19889647 (1), 18946002 (1)
    sensory neuropathy 68.9 5 18957892 (1), 16835246 (1), 20008656 (1), 18946002 (1)
    insulin sensitivity 43.3 16 16123358 (3), 17828388 (2), 20037808 (1), 19267277 (1)
    obesity 18 22 16123358 (2), 16160866 (2), 12598526 (2), 19448711 (1) (see all 5)

    GeneTests: MFN2
    GeneReviews: MFN2
    Genetic Association Database (GAD): MFN2
    Human Genome Epidemiology (HuGE) Navigator: MFN2 (8 documents)

    Export disorders for MFN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MFN2 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with MFN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Control of mitochondrial morphology by a human mitofusin. (PubMed id 11181170)1, 2, 3, 9 Santel A. and Fuller M.T. (2001)
    2. Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis. (PubMed id 12499352)1, 2, 3 Karbowski M.... Youle R.J. (2002)
    3. MFN2 point mutations occur in 3.4% of Charcot-Marie-T ooth families. An investigation of 232 Norwegian CMT families. (PubMed id 20350294)1, 4, 9 Braathen G.J....Russell M.B. (2010)
    4. Genotype-phenotype correlations in Charcot-Marie-Toot h disease type 2 caused by mitofusin 2 mutations. (PubMed id 20008656)1, 4, 9 Calvo J....Magdelaine C. (2009)
    5. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. (PubMed id 12598526)1, 2, 9 Bach D.... Zorzano A. (2003)
    6. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (PubMed id 16437557)1, 2, 9 Zuechner S.... Vance J.M. (2006)
    7. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. (PubMed id 11950885)1, 2, 9 Rojo M.... Lombes A. (2002)
    8. Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2. (PubMed id 17121834)1, 2, 9 Hajek P....Attardi G. (2007)
    9. Evaluation of nine candidate genes in patients with n ormal tension glaucoma: a case control study. (PubMed id 19754948)1, 4, 9 Wolf C....Weisschuh N. (2009)
    10. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (PubMed id 15549395)1, 2, 9 Kijima K.... Hayasaka K. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9927 HGNC: 16877 AceView: MFN2 Ensembl:ENSG00000116688 euGenes: HUgn9927
    ECgene: MFN2 H-InvDB: MFN2

    (According to HUGE)
    About This Section
    HUGE: KIAA0214

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MFN2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MFN2 Genetics and Cytogenetics in Oncology and Haematology
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MFN2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MFN2 gene:
    Search GeneIP for patents involving MFN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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