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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 TTPA






    Basic information
    Official symbolTTPA
    Official full nametocopherol (alpha) transfer protein
    Location8q12.3
    Gene typeprotein-coding
    SynonymsATTP|AVED|TTP1|alphaTTP
    Quick linksEntrez ID:7274; HGNC:12404; MIM:600415; Ensembl:ENSG00000137561; HPRD:02685; Vega:OTTHUMG00000164367
    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
    GO:0019842vitamin binding13771.524.590.00090.0130
    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
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr86397104763999612277460Ataxia with isolated vitamin E deficiency36004158q12.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr863971047639996127274TtpaMGI:1354168MP:0003631nervous system phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005369muscle phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005376homeostasis/metabolism phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005380embryogenesis phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005385cardiovascular system phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005386behavior/neurological phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005389reproductive system phenotype
    chr863971047639996127274TtpaMGI:1354168MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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