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
382663182024Protective effect of FXN overexpression on ferroptosis in L-Glu-induced SH-SY5Y cells.3
383962382024Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.0
385529472024The Mechanism of Folding of Human Frataxin in Comparison to the Yeast Homologue - Broad Energy Barriers and the General Properties of the Transition State.0
388919932024An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.0
389206682024The Regulation of the Disease-Causing Gene FXN.0
382663182024Protective effect of FXN overexpression on ferroptosis in L-Glu-induced SH-SY5Y cells.3
383962382024Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.0
385529472024The Mechanism of Folding of Human Frataxin in Comparison to the Yeast Homologue - Broad Energy Barriers and the General Properties of the Transition State.0
388919932024An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.0
389206682024The Regulation of the Disease-Causing Gene FXN.0
363698442023Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.2
365505982023Astrocytic mitochondrial frataxin-A promising target for ischemic brain injury.2
366350612023FXN gene methylation determines carrier status in Friedreich ataxia.0
380620362023Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.2
363698442023Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.2

Citation

Dessen P

FXN (frataxin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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