FDX2 (ferredoxin 2)

2018-11-01  

Identity

HGNC
FDX2
LOCATION
19p13.2
LOCUSID
112812
ALIAS
FDX1L,MEOAL

Other Information

Locus ID:

NCBI: 112812
MIM: 614585
HGNC: 30546
Ensembl: ENSG00000267673

Variants:

dbSNP: 112812
ClinVar: 112812
TCGA: ENSG00000267673
COSMIC: FDX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000267673ENST00000393708Q6P4F2
ENSG00000267673ENST00000492239A0A0A0MTS8
ENSG00000267673ENST00000494368A0A0A0MTS8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
362807952023Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.17
362807952023Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.17
313958772019Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.64
313958772019Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.64
300107962018A novel complex neurological phenotype due to a homozygous mutation in FDX2.18
300107962018A novel complex neurological phenotype due to a homozygous mutation in FDX2.18
280010422017Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.56
280010422017Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.56
242813682014Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.37
242813682014Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.37
232082072013Human ferredoxin-2 displays a unique conformational change.12
232082072013Human ferredoxin-2 displays a unique conformational change.12
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

FDX2 (ferredoxin 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80553/fdx2-(ferredoxin-2)