FDXR (ferredoxin reductase)

2007-04-01  

Identity

HGNC
FDXR
LOCATION
17q25.1
LOCUSID
2232
ALIAS
ADR,ADXR,ANOA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161513ENST00000293195A0A0C4DFN8
ENSG00000161513ENST00000413947A0A0A0MSZ4
ENSG00000161513ENST00000420580P22570
ENSG00000161513ENST00000442102A0A0A0MT64
ENSG00000161513ENST00000544854A0A0A0MTN9
ENSG00000161513ENST00000577509J3KRG8
ENSG00000161513ENST00000579482J3KRG8
ENSG00000161513ENST00000579543J3KRG8
ENSG00000161513ENST00000579893J3QKZ8
ENSG00000161513ENST00000580492J3KS64
ENSG00000161513ENST00000581219J3QQW7
ENSG00000161513ENST00000581530A0A0C4DGN7
ENSG00000161513ENST00000582710J3KTA3
ENSG00000161513ENST00000582944A0A0A0MTR6
ENSG00000161513ENST00000583881J3QSF9
ENSG00000161513ENST00000583917J3QQX3

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Metabolic disorders of biological oxidation enzymesREACTOMER-HSA-5579029
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)REACTOMER-HSA-5579026
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Pregnenolone biosynthesisREACTOMER-HSA-196108
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Mitochondrial iron-sulfur cluster biogenesisREACTOMER-HSA-1362409
Electron transport from NADPH to FerredoxinREACTOMER-HSA-2395516

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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
364800422023Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.0
370460372023FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.0
371077102023FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.0
374812232023FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.0
364800422023Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.0
370460372023FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.0
371077102023FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.0
374812232023FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.0
349790832022Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.2
349790832022Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.2
332712532021Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.7
333484592021Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.7
339389122021Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.5
332712532021Substrate-induced modulation of protein-protein interactions within human mitochondrial cytochrome P450-dependent system.7
333484592021Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.7

Citation

Dessen P

FDXR (ferredoxin reductase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46873/favicon/cancer-prone-explorer/