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

MFN2 Gene

protein-coding   GIFtS: 66
GCID: GC01P012040

mitofusin 2
 Explore 42 diseases affiliated with
MFN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MFN2    

Aliases
for MFN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mitofusin 21 2     HSG2
CPRP11 2 3     Hyperplasia Suppressor2
CMT2A21 2 5     Mitochondrial Assembly Regulatory Factor2
KIAA02141 3 5     Mitofusin-21
MARF1 2     EC 3.6.5.-3
Transmembrane GTPase MFN22 3     EC 3.6.58
CMT2A2     

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


Summaries
for MFN2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
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

Proteins
for MFN2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000235329   ENSP00000365515   ENSP00000412023   ENSP00000416338  
    Reactome Protein details: O95140
    Human Recombinant Protein Products: 
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    Novus Biologicals MFN2 Protein
    Novus Biologicals MFN2 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for MFN2

    Protein Domains /
    Families
    for MFN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MFN2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR006884 Fzo/mitofusin_HR2
     IPR027089 Mitofusin-2
     IPR001401 Dynamin_GTPase
     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


    Function
    for MFN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: GTP + H(2)O = GDP + phosphate

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

    miRNA
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    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
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


    Animal Models:
         Mouse knock-out Mfn2tm1Dcc for MFN2
         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


    Pathways & Interactions
    for MFN2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    2Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    3Platelet activation, signaling and aggregation
    		Hemostasis0.43

    Pathway sources
    See GeneCards unified pathways
    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001825blastocyst formation IEA--
    GO:0006626protein targeting to mitochondrion IDA11181170
    GO:0007006mitochondrial membrane organization IDA11181170
    GO:0007050NOT cell cycle arrest ISS--
    GO:0007596blood coagulation TAS--


    MFN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MFN2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MFN2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490079 ENST00000235329(uc001atn.4) ENST00000376337 ENST00000484391
    ENST00000497302 ENST00000412236 ENST00000494991 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 plasmid: MFN2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    AL708607 BM716382 AL704859 BE838132 AI814439 CD367204 BM693287 BM706381 
    BM825755 AA991796 BM827849 T30890 AL122114 AI279133 BQ690317 W70284 
    AL598479 AI857365 AI263128 T90073 AL137666 AI220140 BF725300 AA765797 

    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

    Expression
    for MFN2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATTTTTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MFN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for MFN2 gene

    (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 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 AAWZ02037267(1464-14418)
    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
    for MFN2 gene

    (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



    Genomic Variants
    for MFN2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/682 NCBI SNPs in MFN2 are shown (see all 682)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289402931,2
    		Cpathogenic12052663(+) GGTTCC/G/TGGACG 6 P R L mis1 ese31NA 4552
    rs1383827581,2
    		C,F,pathogenic12064892(+) GCACCG/ACCACA 4 /H /R mis11Minor allele frequency- A:0.00NA 4544
    rs1191032671,2
    		C,F,pathogenic12069698(+) TCACCC/TGGGAG 4 R W mis12Minor allele frequency- T:0.00NA EU 5875
    rs127426691,2
    		C--11206772(+) aaaaaG/AGAAGT 1 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs1144032181,2
    		F,--12038338(+) GAGGCG/AGGAGA 2 -- us2k11Minor allele frequency- A:0.04WA 118
    rs2000228931,2
    		--12038385(+) TGCCA-/CTGAGC 2 -- us2k10--------
    rs1162832911,2
    		F,--12038406(+) GCAACA/GGAGTG 2 -- us2k11Minor allele frequency- G:0.02NA 120
    rs357317591,2
    		C,--12038424(+) GACTC-/TTTCTCA 2 -- us2k10--------
    rs1928207151,2
    		--12038554(+) CAATCC/TGACCC 2 -- us2k10--------
    rs1380839671,2
    		--12038555(+) AATCCC/GACCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MFN2 (12040238 - 12073572 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MFN2: --
    Human Gene Mutation Database (HGMD): MFN2

    Locus Specific Mutation Databases (LSDB): MFN2

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFN2
    DNA2.0 Custom Variant and Variant Library Synthesis for MFN2

    Disorders / Diseases
    for MFN2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MFN2 for disorders           About GeneDecksing

    OMIM gene information: 608507   
    OMIM disorders: 609260  601152  
    UniProtKB/Swiss-Prot: MFN2_HUMAN, O95140
  • Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. CMT2A2 is a form
    • of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system.
    Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and
    histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or 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
  • Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]; also referred to as
    • autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal
    CMT associated with optic atrophy

    20/42 diseases for MFN2 (see all 42):    About MalaCards
    charcot-marie-tooth disease    charcot-marie-tooth disease type 2    charcot-marie-tooth disease, type 2a2    hereditary motor and sensory neuropathy vi
    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 2    tooth disease    charcot-marie-tooth neuropathy type 2a
    charcot-marie-tooth disease type 2a    46 xy gonadal dysgenesis    neuropathy    maxillary sinus adenoid cystic carcinoma
    gonadal dysgenesis    obesity    optic atrophy    adhesions of uterus
    pelvic inflammatory disease    cervical incompetence    spontaneous abortion    axonal neuropathy

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

    7 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2A

    Human Genome Epidemiology (HuGE) Navigator: MFN2 (8 documents)

    Export disorders for MFN2 gene to outside databases

    Publications
    for MFN2 gene

    (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 147):
    (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. 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)
    4. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (PubMed id 16437557)1, 2, 9 Zuechner S.... Vance J.M. (2006)
    5. 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)
    6. 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)
    7. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (PubMed id 15549395)1, 2, 9 Kijima K.... Hayasaka K. (2005)
    8. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. (PubMed id 12759376)1, 2, 9 Santel A.... Fuller M.T. (2003)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for MFN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MFN2 gene

    (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

    Other Databases showing MFN2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0214

    Specialized Databases showing MFN2 gene

    (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

    Intellectual Property
    for MFN2 gene

    (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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