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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for TIMM8A






    Basic information
    Official symbolTIMM8A
    Official full nametranslocase of inner mitochondrial membrane 8 homolog A (yeast)
    LocationXq22.1
    Gene typeprotein-coding
    SynonymsDDP|DDP1|DFN1|MTS|TIM8
    Quick linksEntrez ID:1678; HGNC:11817; MIM:300356; Ensembl:ENSG00000126953; HPRD:02287; Vega:OTTHUMG00000022028
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    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
    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
    chrX100602025100604708-"Deafness, X-linked 1, progressive"3300356Xq22.1
    chrX100602025100604708311150Jensen syndrome3300356Xq22.1
    chrX100602025100604708304700Mohr-Tranebjaerg syndrome3300356Xq22.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chrX1006020251006047081678Timm8a1MGI:1353433--
    Mutation spectrum

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    Gene-disease network

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