FDXR (ferredoxin reductase)

2007-04-01 Affiliation

Identity

HGNC

FDXR

LOCATION

17q25.1

LOCUSID

2232

ALIAS

ADR,ADXR,ANOA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2232
MIM: 103270
HGNC: 3642
Ensembl: ENSG00000161513

Variants:

dbSNP: 2232
ClinVar: 2232
TCGA: ENSG00000161513
COSMIC: FDXR

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000161513	ENST00000293195	A0A0C4DFN8
ENSG00000161513	ENST00000413947	A0A0A0MSZ4
ENSG00000161513	ENST00000420580	P22570
ENSG00000161513	ENST00000442102	A0A0A0MT64
ENSG00000161513	ENST00000544854	A0A0A0MTN9
ENSG00000161513	ENST00000577509	J3KRG8
ENSG00000161513	ENST00000579482	J3KRG8
ENSG00000161513	ENST00000579543	J3KRG8
ENSG00000161513	ENST00000579893	J3QKZ8
ENSG00000161513	ENST00000580492	J3KS64
ENSG00000161513	ENST00000581219	J3QQW7
ENSG00000161513	ENST00000581530	A0A0C4DGN7
ENSG00000161513	ENST00000582710	J3KTA3
ENSG00000161513	ENST00000582944	A0A0A0MTR6
ENSG00000161513	ENST00000583881	J3QSF9
ENSG00000161513	ENST00000583917	J3QQX3

Expression (GTEx)

100

150

200

250

300

350

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

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Metabolic disorders of biological oxidation enzymes	REACTOME	R-HSA-5579029
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	REACTOME	R-HSA-5579026
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of steroid hormones	REACTOME	R-HSA-196071
Pregnenolone biosynthesis	REACTOME	R-HSA-196108
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Endogenous sterols	REACTOME	R-HSA-211976
Mitochondrial iron-sulfur cluster biogenesis	REACTOME	R-HSA-1362409
Electron transport from NADPH to Ferredoxin	REACTOME	R-HSA-2395516

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12370809	2002	The ferredoxin reductase gene is regulated by the p53 family and sensitizes cells to oxidative stress-induced apoptosis.	53
22101253	2012	Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis.	45
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
28965846	2017	FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.	10
24321386	2014	Transcriptional regulation of human ferredoxin reductase through an intronic enhancer in steroidogenic cells.	6
12782149	2003	Metabolism of 25-hydroxyvitamin D3 by microsomal and mitochondrial vitamin D3 25-hydroxylases (CYP2D25 and CYP27A1): a novel reaction by CYP27A1.	5
29040572	2017	Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.	5
12137805	2002	Placental cytochrome P450scc (CYP11A1): comparison of catalytic properties between conditions of limiting and saturating adrenodoxin reductase.	4
28905435	2017	Isatin-induced increase in the affinity of human ferrochelatase and adrenodoxin reductase interaction.	2
30250212	2018	Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.	2

Citation

Dessen P

FDXR (ferredoxin reductase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46873/fdxr