Property Summary

NCBI Gene PubMed Count 48
Grant Count 17
R01 Count 6
Funding $2,567,260
PubMed Score 105.51
PubTator Score 37.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.020 0.004
psoriasis -1.600 0.000
osteosarcoma -2.099 0.000
pilocytic astrocytoma 1.200 0.000
ovarian cancer -1.600 0.000

 GWAS Trait (1)

Gene RIF (25)

PMID Text
26310625 The mutations of F-box protein 7 (FBXO7) gene (T22M, R378G and R498X) are associated with autosomal recessive juvenile-onset Parkinson's disease We demonstrated wild-type FBXO7 is a stress response protein with both cytoprotective and neurotoxic roles
26245297 High expression of PARK15 might lead to the occurrence of non-small-cell lung cancer.
26010069 This is first time a FBXO7 mutation has been identified that causes phenotype compatible with typical idiopathic Parkinson's disease and presents with some of its common nonmotor features
25169713 in addition to the parkinsonian-pyramidal phenotype, in connection with FBXO7 mutations and points to an intrafamilial phenotypic variation
25085748 genetic analysis of this Turkish family and the Italian PARK15 family reported previously revealed that the c.1492C > T mutation is present on two different haplotypes in the Italian family
25029497 Cys52 variant of FBXO7 may contribute to reduced Parkinson's disease susceptibility in Chinese
24419388 The crystal structure of the Fbxo7 FP domain is reported at 2.0 A resolution. The Fbxo7 FP domain adopts an alpha/beta-fold similar to that of the PI31 FP domain.
24112787 The involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain.
23933751 This study showed that Fbxo7 participates in mitochondrial maintenance through direct interaction with PINK1 and Parkin and acts in Parkin-mediated mitophagy.
23656991 An important role is suggested for FBXO7 in the pathogenesis of synucleinopathies, including Parkinson's disease and multiple system atrophy.
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AA Sequence

MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDEETLASYGIVS      1 - 70
GDLICLILQDDIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSML     71 - 140
GPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDALIVLIHLLMLES    141 - 210
GYIPQGTEAKALSMPEKWKLSGVYKLQYMHPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLL    211 - 280
PESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFTRQALNLPDVFGLVVLPLELKLRIFRLLDVR    281 - 350
SVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTH    351 - 420
TIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRPRFDPVGPLPG    421 - 490
PNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM                                          491 - 522
//

Text Mined References (50)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26310625 2015 F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.
26245297 2015 Status of the Parkinson's disease gene family expression in non-small-cell lung cancer.
26010069 2015 A new F-box protein 7 gene mutation causing typical Parkinson's disease.
25416956 2014 A proteome-scale map of the human interactome network.
25169713 2014 FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
25085748 2014 A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.
25029497 2014 FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease.
24419388 2014 Structure of the FP domain of Fbxo7 reveals a novel mode of protein-protein interaction.
24112787 2014 Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.
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