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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FDX2
ferredoxin 2
Chromosome 19 Β· 19p13.2
NCBI Gene: 112812Ensembl: ENSG00000267673.7HGNC: HGNC:30546UniProt: Q6P4F2
29PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
electron transfer activityubiquinone biosynthetic processprotein binding[4Fe-4S] cluster assemblyMitochondrial myopathycongenital adrenal hyperplasiarheumatoid arthritisinborn mitochondrial myopathy
✦AI Summary

FDX2 (ferredoxin 2) is a mitochondrial [2Fe-2S] cluster-containing protein that serves as an essential electron donor in iron-sulfur cluster biosynthesis. FDX2 functions as a core component of the mitochondrial iron-sulfur cluster (ISC) assembly complex, providing reducing equivalents to reduce persulfide into sulfide during [2Fe-2S] cluster assembly on the scaffold protein ISCU 1. Structurally, FDX2 binds to the ISC complex through two conformations - a 'distal' state where it interacts electrostatically with NFS1, and a 'proximal' state enabling closer positioning for electron transfer to ISCU 2. FDX2 exhibits functional specificity distinct from FDX1, being specifically involved in Fe-S protein maturation rather than steroidogenesis 3. The protein also participates in coenzyme Q biosynthesis by transferring electrons for COQ6-mediated hydroxylation reactions. Disease relevance includes mitochondrial myopathy with episodic presentation, optic atrophy, and reversible leukoencephalopathy (MEOAL), caused by mutations like P144L that impair electron transfer efficiency with ferredoxin reductase 4. FDX2 deficiency leads to cellular senescence, apoptosis, or ferroptosis depending on cellular context, highlighting its critical role in maintaining mitochondrial redox homeostasis 5. Therapeutically, modulating FDX2 levels may benefit Friedreich's ataxia treatment 6.

Sources cited
1
FDX2 provides reducing equivalents for [2Fe-2S] cluster assembly on ISCU scaffold protein
PMID: 28001042
2
FDX2 binds ISC complex in distal and proximal conformations for electron transfer
PMID: 39632806
3
FDX2 is specifically involved in Fe-S protein maturation, distinct from FDX1
PMID: 36280795
4
P144L mutation causes MEOAL disease by impairing electron transfer efficiency
PMID: 39467201
5
FDX2 deficiency leads to senescence, apoptosis, or ferroptosis depending on cellular context
PMID: 39151727
6
Modulating FDX2 levels may benefit Friedreich's ataxia treatment
PMID: 41372402
Disease Associationsβ“˜21
Mitochondrial myopathyOpen Targets
0.75Strong
congenital adrenal hyperplasiaOpen Targets
0.37Weak
rheumatoid arthritisOpen Targets
0.35Weak
inborn mitochondrial myopathyOpen Targets
0.30Weak
genetic disorderOpen Targets
0.27Weak
COVID-19Open Targets
0.09Suggestive
Crohn's diseaseOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
sclerosing cholangitisOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
autoimmune diseaseOpen Targets
0.07Suggestive
ankylosing spondylitisOpen Targets
0.07Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.05Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyUniProt
Pathogenic Variants3
NM_001397406.1(FDX2):c.196del (p.Asp66fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)Likely pathogenic
Inborn mitochondrial myopathy
β˜…β˜†β˜†β˜†2019β†’ Residue 141
NM_001397406.1(FDX2):c.3G>T (p.Met1Ile)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2019β†’ Residue 1
View on ClinVar β†—
Related Genes
BOLA3Protein interaction99%NDUFS8Protein interaction91%NDUFS2Protein interaction90%METAP1DProtein interaction89%NDUFS3Protein interaction88%SDHAProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Brain
76%
Ovary
56%
Lung
46%
Heart
10%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FDX2BOLA3NDUFS8NDUFS2METAP1DNDUFS3SDHA
PROTEIN STRUCTURE
Preparing viewer…
PDB2Y5C Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.47–1.16]
RankingsWhere FDX2 stands among ~20K protein-coding genes
  • #12,144of 20,598
    Most Researched29
  • #4,123of 5,498
    Most Pathogenic Variants3
  • #12,172of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedFDX2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
FDX1 regulates cellular protein lipoylation through direct binding to LIAS.
PMID: 37453661
J Biol Chem Β· 2023
1.00
2
Two-stage binding of mitochondrial ferredoxin-2 to the core iron-sulfur cluster assembly complex.
PMID: 39632806
Nat Commun Β· 2024
0.90
3
Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
PMID: 36280795
Nat Chem Biol Β· 2023
0.80
4
Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron-Sulfur Cluster Biosynthesis.
PMID: 28001042
Biochemistry Β· 2017
0.70
5
Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2.
PMID: 39467201
Protein Sci Β· 2024
0.60