HCSGD entry for FXN


1. General information

Official gene symbolFXN
Entrez ID2395
Gene full namefrataxin
Other gene symbolsCyaY FA FARR FRDA X25
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

color bar
This gene isn't in PPI subnetwork.

3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0004322Ferroxidase activityIDA IEAmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005739MitochondrionIDA IEAcellular_component
GO:0005759Mitochondrial matrixISS NAS TAScellular_component
GO:0005829CytosolIDAcellular_component
GO:0006119Oxidative phosphorylationIEAbiological_process
GO:0006783Heme biosynthetic processNASbiological_process
GO:0006811Ion transportIEAbiological_process
GO:0006879Cellular iron ion homeostasisIEA IMPbiological_process
GO:0007005Mitochondrion organizationIEAbiological_process
GO:0007628Adult walking behaviorIEAbiological_process
GO:0008198Ferrous iron bindingIDAmolecular_function
GO:0008199Ferric iron bindingIDA IEAmolecular_function
GO:0008284Positive regulation of cell proliferationIMPbiological_process
GO:0009060Aerobic respirationIEAbiological_process
GO:0009792Embryo development ending in birth or egg hatchingIEAbiological_process
GO:0010039Response to iron ionIMPbiological_process
GO:0010722Regulation of ferrochelatase activityIDAbiological_process
GO:0016226Iron-sulfur cluster assemblyIEAbiological_process
GO:0016540Protein autoprocessingIDAbiological_process
GO:0018283Iron incorporation into metallo-sulfur clusterIDAbiological_process
GO:0019230ProprioceptionIEAbiological_process
GO:0030307Positive regulation of cell growthIMPbiological_process
GO:0034986Iron chaperone activityIDAmolecular_function
GO:0040015Negative regulation of multicellular organism growthIEAbiological_process
GO:0043066Negative regulation of apoptotic processIMPbiological_process
GO:0044281Small molecule metabolic processTASbiological_process
GO:0046621Negative regulation of organ growthIEAbiological_process
GO:0048554Positive regulation of metalloenzyme activityIMPbiological_process
GO:0051347Positive regulation of transferase activityIMPbiological_process
GO:0051349Positive regulation of lyase activityIDA IMPbiological_process
GO:0051353Positive regulation of oxidoreductase activityIMPbiological_process
GO:0051536Iron-sulfur cluster bindingIDAmolecular_function
GO:00515372 iron, 2 sulfur cluster bindingIDAmolecular_function
GO:0070301Cellular response to hydrogen peroxideIDAbiological_process
GO:0090201Negative regulation of release of cytochrome c from mitochondriaIMPbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.13256660080.46824974360.73771876581.0000000000

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Up0.0560009126
GSE13712_SHEARUp0.5488527441
GSE13712_STATICUp0.4125377166
GSE19018Down-0.2434238594
GSE19899_A1Up0.0210120965
GSE19899_A2Up0.7356417139
PubMed_21979375_A1Up0.7904863320
PubMed_21979375_A2Up0.6021968646
GSE35957Down-0.3657380759
GSE36640Down-0.0482769136
GSE54402Up0.3291001740
GSE9593Down-0.2547262786
GSE43922Up0.3144483281
GSE24585Down-0.9179435471
GSE37065Down-0.1706434739
GSE28863_A1Up0.0028204860
GSE28863_A2Down-0.1322077923
GSE28863_A3Up0.0378208388
GSE28863_A4Up0.1282231225
GSE48662Down-0.1475309777

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

    • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-559MIMAT0003223MIRT007228Luciferase reporter assayFunctional MTI23382970
hsa-miR-589-5pMIMAT0004799MIRT007229Luciferase reporter assayFunctional MTI23382970
hsa-miR-1270MIMAT0005924MIRT007230Luciferase reporter assayFunctional MTI23382970
hsa-miR-620MIMAT0003289MIRT007231Luciferase reporter assayFunctional MTI23382970
hsa-miR-522-3pMIMAT0002868MIRT007232Luciferase reporter assayFunctional MTI23382970
hsa-miR-299-3pMIMAT0000687MIRT007233Luciferase reporter assayFunctional MTI23382970
hsa-miR-506-3pMIMAT0002878MIRT007234Luciferase reporter assayFunctional MTI23382970
hsa-miR-124-3pMIMAT0000422MIRT007235Luciferase reporter assayFunctional MTI23382970
hsa-miR-624-3pMIMAT0004807MIRT007236Luciferase reporter assayFunctional MTI23382970
hsa-miR-935MIMAT0004978MIRT036668CLASHFunctional MTI (Weak)23622248
hsa-miR-100-5pMIMAT0000098MIRT048445CLASHFunctional MTI (Weak)23622248
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    • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 2 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

27079523Frataxin (FXN) deficiency causes Friedreich's ataxia (FRDA), a multisystem disorder with neurological and non-neurological symptoms
27079523FRDA pathophysiology combines developmental and degenerative processes of dorsal root ganglia (DRG), sensory nerves, dorsal columns and other central nervous structures
27079523To go further in the understanding of the pathogenic mechanisms of neuropathy and diabetes associated with the disease, we have investigated the humanized mouse YG8R model of FRDA
27079523By biochemical and histopathological studies, we observed abnormal changes involving muscle spindles, dorsal root axons and DRG neurons, but normal findings in the posterior columns and brain, which agree with the existence of a dying-back process similar to that described in individuals with FRDA
27079523As a whole, these results confirm that the lack of FXN induces different pathogenic mechanisms in the nervous system and pancreas in the mouse model of FRDA: dying back of the sensory nerves, and pancreatic senescence
24860428Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism
24860428This neuropathy is caused by mutations in the FXN gene that encodes frataxin
24860428Here, we investigated the mitochondrial and cell consequences of frataxin depletion in a cellular model based on frataxin silencing in SH-SY5Y human neuroblastoma cells, a cell line that has been used widely as in vitro models for studies on neurological diseases
24860428We showed that the reduction of frataxin induced mitochondrial dysfunction due to a bioenergetic deficit and abnormal Ca(2+) homeostasis in the mitochondria that were associated with oxidative and endoplasmic reticulum stresses
24860428The depletion of frataxin did not cause cell death but increased autophagy, which may have a cytoprotective effect against cellular insults such as oxidative stress
24860428Frataxin silencing provoked slow cell growth associated with cellular senescence, as demonstrated by increased SA-betagal activity and cell cycle arrest at the G1 phase
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