Property Summary

NCBI Gene PubMed Count 102
Grant Count 18
R01 Count 3
Funding $1,971,359.24
PubMed Score 150.16
PubTator Score 134.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
lung cancer 1.200 0.001

Gene RIF (60)

PMID Text
26576771 rs2075650 at intron region TOMM40 is associated with the A beta-42 levels in CSF.
26310205 No significant effects of APOE epsilon or TOMM40 523 genotypes on white matter hyperintensities or cerebral microbleed burden were found amongst 624 participants
25862420 Its variants are related to impairment in allocentric spatial navigation and reduced cortical thickness of specific brain regions among aMCI individuals with (LOAD neutral) APOE epsilon3/epsilon3 genotype.
25711031 It was discovered that polymorphic variants of TOMM40 rs741780, rs1160985, and rs8106922 are associated with serum triglyceride concentrations.
25703783 Epilepsy, impaired fine motor function and gastrostomy tube feeding were less common in cerebral palsy children with single nucleotide polymorphisms in the APOE or TOMM40 genes
25670332 TOMM40 VL polyT repeat, although not influencing disease susceptibility, has a disease-modifying effect on sIBM, which can be enhanced by the APOE genotype epsilon3/epsilon3.
25644384 This study show genome-wide significant SNP-based associations within three genomic regions 6q16.1 (MIR2113), 14q12 (AKAP6/NPAS3 region) and 19q13.32 (TOMM40/APOE region) with cognition.
25304313 study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population.
25247594 Two genetic risk factors for late onset Alzheimer's disease are in the apolipoprotein-e and translocase of outer mitochondrial membrane 40 (TOMM40) gene poly-T repeat loci.
25201778 The findings of this study consistently lower TOMM40 expression on longitudinal 2-year sampling support its potential role as a diagnostic blood AD biomarker.
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AA Sequence

MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAE      1 - 70
DGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQ     71 - 140
LSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDV    141 - 210
LVGSGILVAHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASD    211 - 280
QLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKN    281 - 350
KFQCGFGLTIG                                                               351 - 361
//

Text Mined References (106)

PMID Year Title
27554484 2016 Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability.
26576771 2016 Combined Genome-Wide CSF A?-42's Associations and Simple Network Properties Highlight New Risk Factors for Alzheimer's Disease.
26310205 2015 APOE/TOMM40 genetic loci, white matter hyperintensities, and cerebral microbleeds.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25862420 2015 The effect of TOMM40 on spatial navigation in amnestic mild cognitive impairment.
25711031 2014 [TOMM40 gene polymorphism association with lipid profile].
25703783 2015 Genes determining the severity of cerebral palsy: the role of single nucleotide polymorphisms on the amount and structure of apolipoprotein E.
25670332 2015 The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
25644384 2015 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).
25304313 2015 No evidence of association between variant rs2075650 in lipid metabolism-related locus APOE/TOMM40 and advanced age-related macular degeneration in Han Chinese population.
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