FDX2 (ferredoxin 2)

2018-11-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
242813682014Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
232082072013Human ferredoxin-2 displays a unique conformational change.10
313958772019Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.3
300107962018A novel complex neurological phenotype due to a homozygous mutation in FDX2.2

Citation

Dessen P

FDX2 (ferredoxin 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80553/fdx2