FXN (frataxin)

2007-02-01  

Identity

HGNC
FXN
LOCATION
9q21.11
LOCUSID
2395
ALIAS
CyaY,FA,FARR,FRDA,X25
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2395
MIM: 606829
HGNC: 3951
Ensembl: ENSG00000165060

Variants:

dbSNP: 2395
ClinVar: 2395
TCGA: ENSG00000165060
COSMIC: FXN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165060ENST00000377270C9JAX1
ENSG00000165060ENST00000396364Q16595
ENSG00000165060ENST00000396366Q16595
ENSG00000165060ENST00000484259Q16595
ENSG00000165060ENST00000484259A0A0S2Z3G4
ENSG00000165060ENST00000498653C9JAX1
ENSG00000165060ENST00000644653A0A0S2Z3Q8

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MetabolismREACTOMER-HSA-1430728
Mitochondrial iron-sulfur cluster biogenesisREACTOMER-HSA-1362409

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
247871372014R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.123
208737492010Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.120
152474782004Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.119
127858372003Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.114
180457752008The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.107
212980972011Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.96
174784982007Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151236832004Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.75
155095952004Iron-sulfur protein maturation in human cells: evidence for a function of frataxin.66

Citation

Dessen P

FXN (frataxin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46262/fxn