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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for MFN2






    Basic information
    Official symbolMFN2
    Official full namemitofusin 2
    Location1p36.22
    Gene typeprotein-coding
    SynonymsCMT2A|CMT2A2|CPRP1|HSG|MARF
    Quick linksEntrez ID:9927; HGNC:16877; MIM:608507; Ensembl:ENSG00000116688; HPRD:08495; Vega:OTTHUMG00000002392
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0043168anion binding24024026.721.500.00480.0336
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr11203923712074572609260"Charcot-Marie-Tooth disease, type 2A2"36085071p36.22
    chr11203923712074572601152Hereditary motor and sensory neuropathy VI36085071p36.22
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr112039237120745729927Mfn2MGI:2442230MP:0001186pigmentation phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0002873normal phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0003631nervous system phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005369muscle phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005376homeostasis/metabolism phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005378growth/size phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005380embryogenesis phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005384cellular phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005385cardiovascular system phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005386behavior/neurological phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0005390skeleton phenotype
    chr112039237120745729927Mfn2MGI:2442230MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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