FDX2

Protein identityUniProt · HPA

UniProt accession

Q6P4F2

Gene

FDX2

Ensembl

ENSG00000267673

Chromosome

19

Canonical length

183 aa

Protein class

Disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

183 residues, UniProt reviewed canonical sequence.

>Q6P4F2|FDX2
     1  MAASMARGGV SARVLLQAAR GTWWNRPGGT SGSGEGVALG TTRKFQATGS RPAGEEDAGG
    61  PERPGDVVNV VFVDRSGQRI PVSGRVGDNV LHLAQRHGVD LEGACEASLA CSTCHVYVSE
   121  DHLDLLPPPE EREDDMLDMA PLLQENSRLG CQIVLTPELE GAEFTLPKIT RNFYVDGHVP
   181  KPH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FDX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

77 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FDX2.

Disease | AllUniProt

Conditions FDX2 is implicated in, by any mechanism.

• Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) MIM:251900

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 154 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
• Inborn mitochondrial myopathy
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.41

gnomAD pLI

0

DepMap mean gene effect

-0.65

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• [2Fe-2S] cluster assembly
• [4Fe-4S] cluster assembly
• electron transport chain
• iron-sulfur cluster assembly
• P450-containing electron transport chain
• ubiquinone biosynthetic process

Molecular functions

• 2 iron, 2 sulfur cluster binding
• electron transfer activity
• metal ion binding

Cellular components

• iron-sulfur cluster assembly complex
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• 2Fe-2S ferredoxin-type iron-sulfur binding domain
• Adrenodoxin-like
• Beta-grasp domain superfamily
• Adrenodoxin, iron-sulphur binding site
• 2Fe-2S ferredoxin-like superfamily
• 2Fe-2S iron-sulfur cluster binding domain

KeywordsUniProt

• 2Fe-2S
• Electron transport
• Iron
• Iron-sulfur
• Metal-binding
• Mitochondrion
• Primary mitochondrial disease
• Transit peptide
• Transport